Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DKC1 Gene

protein-coding GIFtS: 67
GCID: GC0XP153984

dyskeratosis congenita 1, dyskerin

(Previous symbol: DKC)

Explore 32 diseases affiliated with
DKC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Dyskeratosis Congenita 1, Dyskerin¹ ²		SnoRNP Protein DKC1² ³
NOLA4¹ ² ³		Dyskerin³
DKC¹ ² ⁵		CBF5²
NAP57¹ ²		DKCX²
XAP101¹ ²		Cbf5p Homolog²
Nopp140-Associated Protein Of 57 KDa² ³		H/ACA Ribonucleoprotein Complex Subunit 4²
Nucleolar Protein Family A Member 4² ³		Dyskerin³
Nucleolar Protein NAP57² ³		EC 5.4.99.-³
CBF5 Homolog² ³		EC 5.4.99⁸

External Ids:	HGNC: 2890¹	Entrez Gene: 1736²	Ensembl: ENSG00000130826⁷	OMIM: 300126⁵	UniProtKB: O60832³

Export aliases for DKC1 gene to outside databases

Previous GC identifers: GC0XP148054 GC0XP150371 GC0XP151576 GC0XP152458 GC0XP153554

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DKC1:

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in

various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The

H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins

localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA

production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA

snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the

Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail

orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere

direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene.

Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation,

mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also

cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants

encoding different isoforms have been found for this gene. (provided by RefSeq, Feb 2013)

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832

Function: Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA

small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the

isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can

contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also

required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse

transcriptase (TERT) holoenzyme

Function: Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and

leads to cytokeratin hyper-expression (when overexpressed in HeLa cells)

Gene Wiki entry for DKC1 (Dyskerin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_167198.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DKC1 gene promoter:
POU2F2 (Oct-2.1) Oct-B1 oct-B3 oct-B2 POU2F2 POU2F2C POU2F1 HSF2 POU2F1a POU2F2B
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DKC1 promoter sequence

Search SABiosciences Chromatin IP Primers for DKC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DKC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

DKC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DKC1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP153984: view genomic region (about GC identifiers)

Start:	153,991,031 bp from pter	End:	154,005,964 bp from pter
Size:	14,934 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832 (See protein sequence)

Recommended Name: H/ACA ribonucleoprotein complex subunit 4

Size: 514 amino acids; 57674 Da

Subunit: Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2,

GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable

core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1.

The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within

the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with

TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC

are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting

of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2.

The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase

holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a

telomerase RNA template component (TERC). Interacts with SHQ1; this interaction may lead to the stabilization of DKC1,

from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA

Subcellular location: Isoform 1: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled

bodies)

Subcellular location: Isoform 3: Cytoplasm

Secondary accessions: F5BSB3 O43845 Q96G67 Q9Y505

Alternative splicing: 2 isoforms: O60832-1 O60832-2

Explore the universe of human proteins at neXtProt for DKC1: NX_O60832

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60832

4/14 DME Specific Peptides for DKC1 (O60832) (see all 14)

SHEVVAW

LDPKVTG

AVKRQLR

WPLLLKN

DKC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001135935.1 NP_001354.1

ENSEMBL proteins:

ENSP00000358563 ENSP00000400542 ENSP00000407325 ENSP00000395693 ENSP00000389304

ENSP00000407253

Reactome Protein details: O60832
Human Recombinant Protein Products for DKC1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate (see all 2): DKC1 OriGene Custom Protein Services for DKC1
	GenScript Custom Purified and Recombinant Proteins Services for DKC1
	Novus Biologicals DKC1 Proteins Novus Biologicals DKC1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DKC1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005697	telomerase holoenzyme complex	IDA	12135483
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IEA	--

DKC1 for ontologies About GeneDecksing

DKC1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies: DKC1 OriGene Custom Antibody Services for DKC1
	GenScript Custom Superior Antibodies Services for DKC1
	Novus Biologicals DKC1 Antibodies
	Abcam antibodies for DKC1
	Uscn Antibodies for DKC1
	ThermoFisher Antibody for DKC1

Assay Products for DKC1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DKC1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DKC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DKC1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR020103 PsdUridine_synth_cat_dom

IPR015947 PUA-like_domain

IPR002478 PUA

IPR004802 tRNA_PsdUridine_synth_B_fam

IPR002501 PsdUridine_synth

Graphical View of Domain Structure for InterPro Entry O60832

ProtoNet protein and cluster: O60832

2 Blocks protein families:

IPB002501 Pseudouridylate synthase TruB

IPB012960 DKCLD

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832

Similarity: Belongs to the pseudouridine synthase TruB family

Similarity: Contains 1 PUA domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DKC1_HUMAN, O60832

Function: Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA

small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the

isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can

contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also

required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse

transcriptase (TERT) holoenzyme

Function: Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and

leads to cytokeratin hyper-expression (when overexpressed in HeLa cells)

Catalytic activity: RNA uridine = RNA pseudouridine

Genatlas biochemistry entry for DKC1:

dyskerin,multifunctional protein,mainly expressed in the rapidly dividing cells of the epithelia and the hemopoietic

system located in the nucleoli and the coiled bodies,possibly in pseudo-uridylation,involved in rRNA

biosynthesis,ribosomal subunit assembly,and/or centromere/microtubule binding,ortholog of the rat NAP57 and yeast CBF5

Enzyme Numbers (IUBMB): EC 5.4.99² EC 5.4.99.-¹

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003720	telomerase activity	IDA	12135483
GO:0003723	RNA binding	IEA	--
GO:0005515	protein binding	IPI	18358808
GO:0009982	pseudouridine synthase activity	IEA	--

DKC1 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for DKC1:

Increased cell death in breast

Reduced beta-catenin activity

Synthetic lethal with Ras

15 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Dkc1):

adipose tissue	cellular	embryogenesis	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	mortality/aging	no phenotypic analysis
normal	renal/urinary system	reproductive system	respiratory system	tumorigenesis

DKC1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for DKC1: Dkc1^tm2.1Bsl Dkc1^tm1Ppp Dkc1^tm1.1Bsl Dkc1^tm1.1Pjma

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DKC1

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DKC1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DKC1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate DKC1:
		hsa-miR-3671 hsa-miR-548am hsa-miR-501-5p hsa-miR-4279 hsa-miR-548x hsa-miR-362-5p hsa-miR-548c-3p hsa-miR-646

		SwitchGear 3'UTR luciferase reporter plasmid: DKC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DKC1 (see all 7) OriGene shRNA RFP: DKC1 OriGene siRNA: DKC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DKC1
		Sirion Biotech Custom design and validation of potent shRNA sequences against DKC1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DKC1
			Sirion Biotech Customized adenovirus for overexpression of DKC1 Sirion Biotech Customized adenovirus for potent knockdown of DKC1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DKC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DKC1 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DKC1 (NM_001363)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DKC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DKC1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DKC1
		Search LifeMap BioReagents cell lines for DKC1
		Sirion Biotech Customized stable knockdown cell line services for DKC1 Sirion Biotech Customized inducible knockdown cell line services for DKC1 Sirion Biotech Customized stable overexpressing cell line services for DKC1 Sirion Biotech Customized inducible overexpressing cell line services for DKC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DKC1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Meiotic Synapsis

Chromosome Maintenance

0.56

Telomere Maintenance

0.38

Telomere Extension By Telomerase

Telomere Extension By Telomerase

1.00

Cell Cycle

Cell Cycle

1.00

Ribosome biogenesis in eukaryotes

Ribosome biogenesis in eukaryotes

1.00

Regulation of Telomerase

Regulation of Telomerase

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for DKC1

Telomerase Components in Cell Signaling

1 BioSystems Pathway for DKC1

Regulation of Telomerase

5 Reactome Pathways for DKC1

	Extension of Telomeres
	Telomere Maintenance
	Cell Cycle
	Chromosome Maintenance
	Telomere Extension By Telomerase

1 Kegg Pathway (Kegg details for DKC1):

Ribosome biogenesis in eukaryotes

DKC1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DKC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/166 Interacting proteins for DKC1 (O60832^{1, 2, 3} ENSP00000358563⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 166)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EIF3F	O00303²^,³, ENSP00000310040⁴	MINT-63045 I2D: score=5 STRING: ENSP00000310040
SSR1	P43307²^,³, ENSP00000244763⁴	MINT-63758 I2D: score=5 STRING: ENSP00000244763
EEF1G	P26641²^,³	MINT-63185 I2D: score=5
MAPK6	Q16659²^,³	MINT-8260988 I2D: score=2
RUVBL1	Q9Y265¹^,³, ENSP00000318297⁴	EBI-713091,EBI-353675 I2D: score=2 STRING: ENSP00000318297

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000723	telomere maintenance	TAS	--
GO:0001522	pseudouridine synthesis	IEA	--
GO:0006364	rRNA processing	IEA	--
GO:0006396	RNA processing	TAS	9590285
GO:0007004	telomere maintenance via telomerase	TAS	--

DKC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DKC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DKC1

2 HMDB Compounds for DKC1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Pseudouridine	5-(b-D-Ribofuranosyl)uracil (see all 12)	1445-07-4	--
Uridine	1-b-D-Ribofuranosyl-2,4(1H,3H)-pyrimidinedione (see all 9)	58-96-8	--

3 Novoseek chemical compound relationships for DKC1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pseudouridine	88.2	9	12681984 (1), 10591218 (1), 15240872 (1), 19755982 (1) (see all 7)
uridine	50.8	1	15240872 (1)
rrna	45.2	4	12446766 (1), 15240872 (1), 15753647 (1)

Search CenterWatch for drugs/clinical trials and news about DKC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DKC1 gene (2 alternative transcripts):

NM_001142463.1 NM_001363.3

Unigene Cluster for DKC1:

Dyskeratosis congenita 1, dyskerin

Hs.4747 [show with all ESTs]

Unigene Representative Sequence: NM_001363

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000369550(uc004fmm.3 uc010nvf.3) ENST00000475423 ENST00000413910

ENST00000473552 ENST00000452771 ENST00000437719 ENST00000412124 ENST00000426673

ENST00000484317 ENST00000475966 ENST00000481062 ENST00000492372

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DKC1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DKC1
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate DKC1:
		hsa-miR-3671 hsa-miR-548am hsa-miR-501-5p hsa-miR-4279 hsa-miR-548x hsa-miR-362-5p hsa-miR-548c-3p hsa-miR-646

		SwitchGear 3'UTR luciferase reporter plasmid: DKC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DKC1 (see all 7) OriGene shRNA RFP: DKC1 OriGene siRNA: DKC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DKC1
		Sirion Biotech Custom design and validation of potent shRNA sequences against DKC1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DKC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DKC1 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DKC1 (NM_001363)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DKC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DKC1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DKC1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DKC1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DKC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DKC1

Additional cDNA sequence:

AF067008.1 AJ609449.1 AK225077.1 AK307672.1 BC009928.2 BC010015.2 JF279874.1 NR_002984.1

U59151.1

15 DOTS entries:

DT.316838 DT.100656217 DT.99997122 DT.91776286 DT.95258819 DT.121317885 DT.100656222 DT.121317869

DT.95141781 DT.97860836 DT.92376532 DT.92413831 DT.95360933 DT.97779593 DT.100848559

24/460 AceView cDNA sequences (see all 460):

BE260992 BU730947 CR594173 BG169362 CB266071 BM789717 AI953143 CA425744

AA534951 BM982276 BX327599 T03313 CD367400 CB269112 AI344205 BC010015

BQ009951 AA664213 BQ775805 AF067008 BX391508 AA775911 BQ428360 AW169796

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DKC1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11a	·	11b	^	12	^	13a	·	13b	^	14	^	15
SP1:													-										-						-
SP2:													-										-
SP3:													-				-						-
SP4:													-
SP5:

ECgene alternative splicing isoforms for DKC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DKC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

DKC1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Primary Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DKC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DKC1

SOURCE GeneReport for Unigene cluster: Hs.4747

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832

Tissue specificity: Ubiquitously expressed

SABiosciences Expression via Pathway-Focused PCR Arrays including DKC1:

Cancer PathwayFinder in human mouse rat

Telomeres & Telomerase in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DKC1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DKC1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DKC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DKC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DKC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for DKC1 gene from 10/44 species (see all 44) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DKC1¹	dyskeratosis congenita 1, dyskerin	75.82(n) 82.97(a)		422196 NM_001031115.1 NP_001026286.1
lizard (Anolis carolinensis)	Reptilia	DKC1⁶ TRUB1⁶	--	78(a) 19(a)	1 ↔ 1 possible ortholog	GL343202.1(2096110-2107557) GL343206.1(3679435-3727762)
African clawed frog (Xenopus laevis)	Amphibia	Xl.21410²	Xenopus laevis cDNA clone 5G23	77.18(n)		AJ009279.1
zebrafish (Danio rerio)	Actinopterygii	wufa28f10²	Danio rerio, clone IMAGE5413486, mRNA, partial cds	76.33(n)		BC047840.1
fruit fly (Drosophila melanogaster)	Insecta	Nop60B^{1 , 3}	rRNA processing pseudouridylate synthase³ Nucleolar protein at 60B¹	73(a)³ 63.1(n)¹ 67.34(a)¹		60C2³ 37873¹ NM_001169818.2¹ NP_001163289.1¹
worm (Caenorhabditis elegans)	Secernentea	K01G5.5^{1 , 3}	centromere/microtubule binding protein³ Protein K01G5.5¹	67(a)³ 62(n)¹ 66.82(a)¹		III(10820090-10821576)³ 176504¹ NM_066969.3¹ NP_499370.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CBF5(YLR175W)⁴ CBF5¹	Pseudouridine synthase catalytic subunit of box H/ACA more⁴ Cbf5p¹	60.37(n)¹ 64.54(a)¹		12(506134-507585)⁴ 850872^{1, 4} NP_013276.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	NAP57¹	H/ACA ribonucleoprotein complex subunit 4	62.89(n) 64.74(a)		824882 NM_115574.2 NP_191274.1
rice (Oryza sativa)	Liliopsida	Os.13464²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	73.32(n)		AK102460.1
E. coli (Escherichia coli)	Gamma proteobacteria	truB⁶	tRNA U55 pseudouridine synthase	20(a)	possible ortholog	Chromosome(3309855-3310799)

ENSEMBL Gene Tree for DKC1 (if available)
TreeFam Gene Tree for DKC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912303^1,2	C	pathogenic	153991245(+)	`CATGGC/TGGATG`	4	A V	mis¹		0	--	--	--	--
rs137854491^1,2	C	pathogenic	153993725(+)	`AAATAA/C/GAACAC`	6	K Q E	mis¹		0	--	--	--	--
rs121912293^1,2	C	pathogenic	153993740(+)	`AAGAAG/TTTCTT`	4	V F	mis¹		0	--	--	--	--
rs137854489^1,2	C	pathogenic	153993743(+)	`AATTT-/CTTATCAA`	2	--	cds¹		0	--	--	--	--
rs28936072^1,2	C	pathogenic	153993747(+)	`TCTTAT/CCAAAC`	4	/T /I	mis¹ ese³		1		NA	2
rs121912296^1,2	C	pathogenic	153993749(+)	`TTATCA/GAACCT`	4	K E	mis¹		0	--	--	--	--
rs121912292^1,2	C	pathogenic	153993753(+)	`CAAACC/GTGAAT`	4	P R	mis¹		0	--	--	--	--
rs121912302^1,2	C	pathogenic	153993755(+)	`AACCTA/GAATCC`	4	K E	mis¹		0	--	--	--	--
rs121912304^1,2	C	pathogenic	153993780(+)	`GGACAC/TGTCTC`	4	T M	mis¹		0	--	--	--	--
rs121912301^1,2	C	pathogenic	153994204(+)	`TGTAAC/GGACAA`	4	T R	mis¹		0	--	--	--	--
rs121912297^1,2	C	pathogenic	153994206(+)	`TAAGGA/GCAACA`	4	T A	mis¹		0	--	--	--	--
rs121912305^1,2	C	pathogenic	153994588(+)	`GGCACA/GGTGGT`	4	S G	mis¹		0	--	--	--	--
rs146700772^1,2	C,F	pathogenic	153997508(+)	`ATGAGA/CGTTAC`	4	S R	mis¹		1		NA	4550
rs121912290^1,2	C	pathogenic	153999067(+)	`TTATGC/G/TTTCCA`	6	L V F	mis¹		0	--	--	--	--
rs2728726^1,2	C,F,H	pathogenic	153999079(+)	`GTGTTA/C/GTTCGA`	6	I L V	mis¹		12		MN NS EA NA	1286
rs121912291^1,2	C	pathogenic	153999083(+)	`TCTTCA/GATATG`	4	Q R	mis¹		0	--	--	--	--
rs121912300^1,2	C	pathogenic	154001418(+)	`ATTAAC/TGACCA`	5	T M	mis¹ us2k¹		0	--	--	--	--
rs121912298^1,2	C	pathogenic	154001419(+)	`TTAATA/GACCAC`	5	I M	mis¹ us2k¹		0	--	--	--	--
rs121912288^1,2	C	pathogenic	154001427(+)	`CACAGC/TGGTCA`	5	A V	mis¹ us2k¹		0	--	--	--	--
rs121912295^1,2	C	pathogenic	154002926(+)	`GCATGA/GGAAGC`	5	E G	mis¹ us2k¹		0	--	--	--	--
rs121912289^1,2	C	pathogenic	154002947(+)	`CACACC/TTGCCA`	5	P L	us2k¹ mis¹		0	--	--	--	--
rs143727167^1,2		--	153989146(+)	`CGATTA/CTCTTG`	2	--	us2k¹		0	--	--	--	--
rs187078506^1,2		--	153989436(+)	`CAAATC/TCCAGA`	2	--	us2k¹		0	--	--	--	--
rs147464219^1,2		--	153989763(+)	`ATGATC/TAAATC`	2	--	us2k¹		0	--	--	--	--
rs5986881^1,2	C	--	153990173(+)	`gaattA/Ggatga`	2	--	us2k¹		2		NA	4
rs192329327^1,2		--	153990178(+)	`AGATGA/TGGCAC`	2	--	us2k¹		0	--	--	--	--
rs185124348^1,2		--	153990434(+)	`CGGTCA/GTAGAG`	2	--	us2k¹		0	--	--	--	--
rs34547727^1,2	C	--	153990498(+)	`GGGAC-/AAAAAA`	2	--	us2k¹		1		CSA	2
rs5987020^1,2	C,F,A,H	--	153990735(+)	`AAAGGC/GCTTTC`	2	--	us2k¹		5		NS EA WA	420
rs189080591^1,2		--	153990899(+)	`AAGCAA/GCTACA`	2	--	us2k¹		0	--	--	--	--
rs201817789^1,2		--	153991278(+)	`TCCGGA/GCCGTG`	2	--	int¹		0	--	--	--	--
rs201004928^1,2		--	153991280(+)	`CGGGCC/TGTGCT`	2	--	int¹		0	--	--	--	--
rs193003247^1,2		--	153991445(+)	`GGGAGC/TCCCTC`	2	--	int¹		0	--	--	--	--
rs2728530^1,2	C,F,O,A,H	--	153991458(+)	`GGTGAC/TTTGGC`	2	--	int¹		16		NS EA NA	2116
rs184546407^1,2		--	153991475(+)	`GGGCTC/TGGCCC`	2	--	int¹		0	--	--	--	--
rs188300620^1,2		--	153992153(+)	`TAAAAA/GTATAG`	2	--	int¹		0	--	--	--	--
rs180767826^1,2		--	153992219(+)	`ACCTGC/TGGTCA`	2	--	int¹		0	--	--	--	--
rs5987021^1,2	C	--	153992389(+)	`gagttC/Tctgcc`	2	--	int¹		0	--	--	--	--
rs184164214^1,2		--	153992416(+)	`GGGAAA/GGAGTG`	2	--	int¹		0	--	--	--	--
rs57268312^1,2	C	--	153992458(+)	`ATATA-/TAAATAT`	2	--	int¹		0	--	--	--	--
rs188512507^1,2		--	153992538(+)	`AGGTTA/TTAAGT`	2	--	int¹		0	--	--	--	--
rs182014806^1,2		--	153993036(+)	`ACTTGA/CAAAAC`	2	--	int¹		0	--	--	--	--
rs142410621^1,2		--	153993104(+)	`TTTCGA/GTCTTT`	2	--	int¹		0	--	--	--	--
rs186546647^1,2		--	153993119(+)	`TAAACC/TCTTGT`	2	--	int¹		0	--	--	--	--
rs142474971^1,2	C	--	153993241(+)	`GTAGCC/TGTGAG`	4	A	syn¹		1		NA	4550
rs199975650^1,2		--	153993260(+)	`TGTTTG/TACTTC`	2	--	int¹		0	--	--	--	--
rs192386971^1,2		--	153993352(+)	`CATTGA/GTAGTC`	2	--	int¹		0	--	--	--	--
rs181965219^1,2		--	153993391(+)	`TGACAC/TAGCCC`	2	--	int¹		0	--	--	--	--
rs45627635^1,2	C	--	153993479(+)	`TCCTTA/GTGCCA`	2	--	int¹		0	--	--	--	--
rs186389886^1,2		--	153993886(+)	`ATGCTC/TACTGC`	2	--	int¹		0	--	--	--	--
rs2853347^1,2	C,F,H	--	153994237(+)	`TGGTTC/AAAATC`	4	/* /S	stg¹ ese³		12		MN NS EA NA	1002
rs189954837^1,2	C	--	153994460(+)	`TGGGTA/GATACA`	2	--	int¹		0	--	--	--	--
rs11558982^1,2	C,H	--	153994519(+)	`AGCCCT/CCTAAC`	4	/P /S	mis¹ ese³		5		NS EA NA	408
rs201963962^1,2		--	153994524(+)	`TCTAAC/TCCCTC`	4	N	syn¹		0	--	--	--	--
rs182282697^1,2	C	--	153994708(+)	`GCTAGA/CGTGAA`	2	--	int¹		0	--	--	--	--
rs187313948^1,2	C	--	153994716(+)	`GAAAAA/GCTTTC`	2	--	int¹		0	--	--	--	--
rs146625167^1,2		--	153994849(+)	`GTCCGC/TGCTTT`	3	--	us2k¹ int¹		0	--	--	--	--
rs191011451^1,2		--	153995115(+)	`ACATCA/TTCACC`	4	--	int¹ us2k¹		0	--	--	--	--
rs7064200^1,2	C,F	--	153995217(+)	`GAAATT/ATGGAA`	4	--	int¹ us2k¹		2		NA WA	4
rs201758541^1,2		--	153995365(+)	`ACACCC/GTTTGT`	4	--	us2k¹ int¹		0	--	--	--	--
rs183681840^1,2		--	153995423(+)	`CCTGAC/TTGACT`	4	--	int¹ us2k¹		0	--	--	--	--
rs188253757^1,2	C	--	153995481(+)	`GACTGC/TACATG`	4	--	int¹ us2k¹		0	--	--	--	--
rs193083517^1,2		--	153995794(+)	`TAGTTA/TTTGTT`	4	--	int¹ us2k¹		0	--	--	--	--
rs185677980^1,2		--	153995858(+)	`CTTTTA/TTGATG`	4	--	int¹ us2k¹		0	--	--	--	--
rs187753327^1,2		--	153995963(+)	`ATGTGG/TTTTTT`	4	--	us2k¹ int¹		0	--	--	--	--
rs2853348^1,2	C	--	153995974(+)	`ATTTGT/CTGCAA`	4	--	int¹ us2k¹		1		NA	2
rs191450613^1,2		--	153996339(+)	`CCAGGA/TTGGTC`	4	--	int¹ us2k¹		0	--	--	--	--
rs111807979^1,2	C	--	153996414(+)	`GCCACT/CGTGCC`	4	--	int¹ us2k¹		2		NA CSA	2
rs5945234^1,2	H	--	153996592(+)	`GGTGAG/ATTGTG`	6	/N /S	mis¹ us2k¹		4		NS EA	406
rs2728533^1,2	C,H	--	153996604(+)	`GGCTGG/ACACCT`	6	/D /G	mis¹ us2k¹ ese³		10		MN NS EA NA	908
rs2728534^1,2	C,H	--	153996613(+)	`CTACAT/GTCGGA`	6	/S /I	us2k¹ mis¹		10		MN NS EA NA	826
rs144561614^1,2		--	153996788(+)	`CATGTC/TGTGGG`	4	--	int¹ us2k¹		0	--	--	--	--
rs138465224^1,2		--	153996899(+)	`AGAAAC/GTATTA`	3	--	int¹ nc-transcript-variant		0	--	--	--	--
rs188563482^1,2		--	153996905(+)	`TATTAC/TTCTAT`	3	--	int¹ nc-transcript-variant		0	--	--	--	--
rs2728535^1,2	C	--	153997329(+)	`CTGAAG/AACATA`	4	--	int¹ ds500¹		1		NA	2
rs61757608^1,2	C,F	--	153997446(+)	`GGACCA/CCATGG`	4	H P	mis¹		1		NA	4550
rs2853350^1,2	C,H	--	153997516(+)	`TACCTG/ACGGCG`	4	/L	syn¹ ese³		9		MN NS EA	826
rs200438009^1,2		--	153997521(+)	`GCGGCA/GAGTTG`	4	Q R	mis¹		0	--	--	--	--
rs5987022^1,2	C	--	153997695(+)	`CAAACC/TAAGTA`	2	--	int¹		1		WA	2
rs143575341^1,2		--	153997960(+)	`TTTCTA/GGATAT`	2	--	int¹		0	--	--	--	--
rs148028033^1,2		--	153997977(+)	`TGTTTA/GTAGTT`	2	--	int¹		0	--	--	--	--
rs185349725^1,2		--	153998007(+)	`ATCTTC/GTATAG`	2	--	int¹		0	--	--	--	--
rs190122831^1,2		--	153998132(+)	`CTTATC/TAAACC`	2	--	int¹		0	--	--	--	--
rs181720118^1,2		--	153998264(+)	`TAACTG/TGTACC`	2	--	int¹		0	--	--	--	--
rs186585425^1,2		--	153998269(+)	`TGTACC/TCACTG`	2	--	int¹		0	--	--	--	--
rs2853352^1,2	C	--	153998337(+)	`TTGTTT/CTCAAG`	2	--	int¹		1		NA	2
rs74960064^1,2	C	--	153998460(+)	`AAATAC/TGGACC`	2	--	int¹		1		WA	2
rs2664160^1,2	C,F,A,H	--	153998497(-)	`CAAAGC/TGCTGG`	2	--	int¹		3		NA WA	8
rs2742055^1,2	H	--	153998642(+)	`GGGAGG/ACTGAG`	2	--	int¹		4		NS EA	418
rs12353643^1,2	C	--	153998718(+)	`gacaaC/Tagagg`	2	--	int¹		0	--	--	--	--
rs189421055^1,2		--	153998854(+)	`TACCTA/GTAGCA`	2	--	int¹		0	--	--	--	--
rs11156581^1,2	C,A	--	153999183(+)	`AAATTC/GTAAAT`	2	--	int¹		0	--	--	--	--
rs180905616^1,2	C	--	153999200(+)	`GGTTAC/TATACT`	2	--	int¹		0	--	--	--	--
rs185114614^1,2		--	153999412(+)	`TGCTAC/TTAAAT`	2	--	int¹		0	--	--	--	--
rs200978202^1,2		--	153999461(+)	`GTGGT-/GGTTTT`	2	--	int¹		0	--	--	--	--
rs150604585^1,2		--	153999679(+)	`TCAGGC/TTGGTC`	2	--	int¹		0	--	--	--	--
rs139822110^1,2		--	153999876(+)	`TGTTTC/GGATTC`	2	--	int¹		0	--	--	--	--
rs191496528^1,2		--	154000218(+)	`CTTCAC/TAGTGG`	2	--	int¹		0	--	--	--	--
rs149377061^1,2		--	154000289(+)	`CCAGCA/GCTTGT`	2	--	int¹		0	--	--	--	--
rs183149603^1,2		--	154000374(+)	`TCTCTC/TGTGAT`	2	--	int¹		0	--	--	--	--
rs186430395^1,2		--	154000614(+)	`TGAAGA/CGACTG`	2	--	int¹		0	--	--	--	--
rs191786086^1,2		--	154000752(+)	`CTGTTG/TTGGTT`	2	--	int¹		0	--	--	--	--
rs182865106^1,2		--	154000831(+)	`GATAGC/TTTTGG`	2	--	int¹		0	--	--	--	--
rs187796159^1,2		--	154000939(+)	`TCTGCA/GCACCC`	2	--	int¹		0	--	--	--	--
rs144801924^1,2		--	154001167(+)	`TGTATC/TGTTAG`	2	--	int¹		0	--	--	--	--
rs192310611^1,2		--	154001400(+)	`AATGCC/TTGTAG`	3	--	us2k¹ int¹		0	--	--	--	--
rs2853355^1,2	C,H	--	154001518(+)	`TTAGGT/CCCAAA`	5	/G	syn¹ us2k¹ ese³		5		NS EA NA	420
rs182275900^1,2		--	154002026(+)	`CCACCC/TTTCCC`	3	--	us2k¹ int¹		0	--	--	--	--
rs186546138^1,2		--	154002032(+)	`TTCCCA/GCCTTT`	3	--	int¹ us2k¹		0	--	--	--	--
rs192663414^1,2		--	154002097(+)	`CACACC/GTCCCA`	3	--	us2k¹ int¹		0	--	--	--	--
rs184883100^1,2		--	154002215(+)	`ACCCCA/CCCCCA`	3	--	us2k¹ int¹		0	--	--	--	--
rs189831521^1,2		--	154002219(+)	`CCCCCA/CACCTC`	3	--	us2k¹ int¹		0	--	--	--	--
rs139679057^1,2		--	154002437(+)	`AATGGC/TGAATT`	3	--	us2k¹ int¹		0	--	--	--	--
rs41302184^1,2	C	--	154002812(+)	`TCTTTA/GTAGTC`	3	--	int¹ us2k¹		0	--	--	--	--
rs121912299^1,2	C	--	154002925(+)	`AGCATA/GGGAAG`	5	R G	us2k¹ mis¹		0	--	--	--	--
rs199803984^1,2		--	154002927(+)	`CATGGA/GAAGCC`	5	G	syn¹ us2k¹		0	--	--	--	--
rs146635866^1,2	C	--	154003019(+)	`AGAGAC/TGGCAC`	3	--	int¹ us2k¹		0	--	--	--	--
rs192982163^1,2	C	--	154003020(+)	`GAGACA/GGCACA`	3	--	us2k¹ int¹		0	--	--	--	--
rs140158889^1,2		--	154003070(+)	`GGATGA/GGAAGG`	3	--	us2k¹ int¹		0	--	--	--	--
rs184370358^1,2		--	154003118(+)	`ACAACA/CGGTGA`	3	--	int¹ us2k¹		0	--	--	--	--
rs138065506^1,2	F	--	154003503(+)	`GAAGTG/AGTAAA`	5	/V	ds500¹ syn¹		1		NA	4550
rs189466923^1,2	C	--	154003515(+)	`GCCCCA/GCAGGT`	5	P	syn¹ ds500¹		0	--	--	--	--
rs143207180^1,2	C,F	--	154003527(+)	`GTTGCC/TGAAGC`	5	A	syn¹ ds500¹		1		NA	4550
rs181829424^1,2		--	154003799(+)	`GCCTCA/GACTCC`	3	--	int¹ ds500¹		0	--	--	--	--
rs151142174^1,2		--	154004395(+)	`TTTTGA/GCTCAC`	2	--	int¹		0	--	--	--	--
rs185367374^1,2	C	--	154004426(+)	`TTGCCC/TAAGAT`	2	--	int¹		0	--	--	--	--
rs3752356^1,2	C,F,H	--	154004554(+)	`GACAAG/AAAGGC`	4	/K	syn¹ ese³		7		NS EA NA	584
rs150319104^1,2	C,F	--	154004579(+)	`AGAGCG/AGGGCC`	4	/R /G	mis¹		1		NA	3756
rs1127051^1,2	C,F,H	--	154004584(+)	`GGGGCC/TGAGCC`	4	A	syn¹		16		MN NS EA NA	5623
rs7064090^1,2	C,F,A,H	--	154004655(+)	`GGAAAG/TAATTA`	2	--	int¹ trp³		6		NS EA NA	624
rs142192567^1,2		--	154004838(+)	`GGTGGG/TTGGAG`	2	--	int¹		0	--	--	--	--
rs189292524^1,2		--	154004851(+)	`GATGTA/GTAGGA`	2	--	int¹		0	--	--	--	--
rs180890232^1,2		--	154004877(+)	`TTCCAC/TTTCCA`	2	--	int¹		0	--	--	--	--
rs41299134^1,2	C	--	154005002(+)	`TACCAG/TATTTC`	2	--	int¹		0	--	--	--	--
rs138939514^1,2		--	154005034(+)	`TGTTAA/GTGGAT`	2	--	int¹		0	--	--	--	--
rs186518477^1,2		--	154005121(+)	`AAAGAG/TGTAGA`	4	E D	mis¹		0	--	--	--	--
rs1800533^1,2	C,F,H	--	154005148(+)	`TGAAGA/C/GCCACT`	4	--	ut3¹ ese³		15		NS EA NA CSA	1969
rs11795799^1,2	C,H	--	154005171(+)	`AGAAAC/ATAAAG`	2	--	ut3¹ ese³		1		NA	4
rs143263287^1,2		--	154005182(+)	`CCTTAC/TTGAGA`	2	--	ut3¹		0	--	--	--	--
rs7878787^1,2	C	--	154005239(+)	`CCTAGG/ACAGGG`	2	--	ut3¹ ese³		2		WA CSA	3
rs141487608^1,2	C	--	154005455(+)	`AACATC/TGTAGT`	2	--	ut3¹		0	--	--	--	--
rs191271657^1,2		--	154005522(+)	`AAAACG/TAAGTC`	2	--	ut3¹		0	--	--	--	--
rs150856514^1,2		--	154006058(+)	`GTACTC/TAGAGG`	2	--	ds500¹		0	--	--	--	--
rs182896757^1,2		--	154006066(+)	`AGGCAA/GTGATT`	2	--	ds500¹		0	--	--	--	--
rs139570386^1,2		--	154006205(+)	`AATCTA/GAAGGC`	2	--	ds500¹		0	--	--	--	--
rs185757091^1,2		--	154006290(+)	`GTGCAA/GTGGCT`	2	--	ds500¹		0	--	--	--	--
rs113890817^1,2	--	--	154002640(+)	`AAAAAA/GTAGAG`	3	--	int¹ us2k¹		0	--	--	--	--
rs113288914^1,2	--	--	153999476(-)	`AAAAAA/TAAGAA`	2	--	int¹		0	--	--	--	--
rs201250553^1,2	--	--	153993054(+)	`GGCATA/GTGACT`	2	--	int¹		0	--	--	--	--
rs199422252^1,2	--	pathogenic	154002877(+)	`ACCAGA/GCAAGT`	5	T A	mis¹ us2k¹		0	--	--	--	--
rs5945237^1,2	--	--	154001623(+)	`tcacaA/Gagggg`	3	--	int¹ us2k¹		0	--	--	--	--
rs2728531^1,2	--	--	153992554(+)	`ACCCGA/TAGAGG`	2	--	int¹		0	--	--	--	--
rs199422253^1,2	--	pathogenic	154002914(+)	`CCTTCC/TGGACA`	5	P L	mis¹ us2k¹		0	--	--	--	--
rs200156434^1,2	--	--	153997593(+)	`AAGTTC/TCGGGT`	2	--	int¹		0	--	--	--	--
rs3926730^1,2	--	--	154001645(+)	`gtcatA/Gggaca`	3	--	int¹ us2k¹		0	--	--	--	--
rs58560125^1,2	--	--	153998743(+)	`AATTA-/AAAAAA`	2	--	int¹		0	--	--	--	--
rs199422250^1,2	--	pathogenic	154001519(+)	`TAGGTC/TCAAAG`	5	P S	mis¹ us2k¹		0	--	--	--	--
rs112768342^1,2	--	--	153996893(+)	`TTGGGC/TAGAAA`	4	--	nc-transcript-variantint¹		0	--	--	--	--
rs4898351^1,2	--	--	153999724(+)	`aagtgC/Gtggga`	2	--	int¹		0	--	--	--	--
rs61462405^1,2	--	--	153995695(+)	`ACATTC/TTTCAG`	4	--	int¹ us2k¹		0	--	--	--	--
rs5945235^1,2	--	--	153999651(+)	`tagtaG/Aagaca`	2	--	int¹		1		NA	2
rs200428645^1,2	--	--	153992444(+)	`AAAAAA/TTATAT`	2	--	int¹		0	--	--	--	--
rs137854492^1,2	--	pathogenic	154001438(+)	`TCTCTA/GCCTGC`	5	T A	mis¹ us2k¹		0	--	--	--	--
rs199422245^1,2	--	pathogenic	153994214(+)	`ACACAA/CTATAC`	4	Q H	mis¹		0	--	--	--	--
rs199422243^1,2	--	pathogenic	153993761(+)	`AATCCA/GAAGTT`	4	K E	mis¹		0	--	--	--	--
rs113386014^1,2	--	--	154005160(+)	`GAAGCC/TGGAGG`	2	--	ut3¹		0	--	--	--	--
rs2742057^1,2	--	--	154000756(+)	`TTTGGA/TTACTG`	2	--	int¹		0	--	--	--	--
rs11336792^1,2	--	--	153999380(+)	`TAAGT-/TATTAT`	2	--	int¹		0	--	--	--	--
rs201613883^1,2	--	--	154000994(+)	`TTGTAC/TCAGAA`	2	--	int¹		0	--	--	--	--
rs11507854^1,2	--	--	153998742(+)	`AAAATA/TAAAAA`	2	--	int¹		0	--	--	--	--
rs201253233^1,2	--	--	154005009(+)	`TTTCCA/TTCTGG`	2	--	int¹		0	--	--	--	--
rs201592812^1,2	--	--	153996720(+)	`TTACGA/GGGCTA`	4	--	us2k¹ int¹		0	--	--	--	--
rs3926732^1,2	--	--	154001749(+)	`cctggG/Ttactt`	3	--	int¹ us2k¹		0	--	--	--	--
rs71870837^1,2	--	--	153993962(+)	`ATGAG-/AAACCA`	2	--	int¹		0	--	--	--	--
rs199422242^1,2	--	pathogenic	153993186(+)	`TTTGCC/TAAAGA`	4	P L	mis¹		0	--	--	--	--
rs148764075^1,2	--	--	153993213(+)	`GGAGCG/AGAAGT`	4	/Q /R	mis¹		1		NA	4550
rs199422248^1,2	--	pathogenic	153999059(+)	`GGCCAA/GGATTA`	4	K R	mis¹		0	--	--	--	--
rs202057000^1,2	--	--	154004975(+)	`AAAAAA/GGCTTG`	2	--	int¹		0	--	--	--	--
rs3916667^1,2	--	--	154001606(+)	`taattC/Tttggg`	3	--	int¹ us2k¹		0	--	--	--	--
rs17850575^1,2	--	--	153997523(+)	`GGCGAG/TTTGTT`	4	V F	mis¹		0	--	--	--	--
rs147447481^1,2	--	--	154005076(+)	`TAGGAC/TAGTGA`	4	D	syn¹		1		NA	4536
rs147516753^1,2	--	--	153992445(+)	`TATAT-/TAATAAA`	2	--	int¹		0	--	--	--	--
rs35184460^1,2	--	--	153996119(+)	`TTTTT-/TGAGAC`	4	--	us2k¹ int¹		0	--	--	--	--
rs199881721^1,2	--	--	154003362(+)	`CCAGCA/GTCAGT`	3	--	nc-transcript-variantint¹		0	--	--	--	--
rs145325102^1,2	--	--	153999096(+)	`GACGGC/TATTGA`	4	G	syn¹		1		NA	4552
rs199560578^1,2	--	--	154002712(+)	`CAAGTA/CCTGTG`	3	--	int¹ us2k¹		0	--	--	--	--
rs2853354^1,2	--	--	154000687(+)	`ATTTGC/TTTCTG`	2	--	int¹		0	--	--	--	--
rs71908370^1,2	--	--	153990498(+)	`AAAAA-/AACCAAT`	2	--	us2k¹		0	--	--	--	--
rs199422244^1,2	--	pathogenic	153994210(+)	`GACAAC/TACACT`	4	T I	mis¹		0	--	--	--	--
rs199422251^1,2	--	pathogenic	154001520(+)	`AGGTCC/TAAAGG`	5	P L	mis¹ us2k¹		0	--	--	--	--
rs3926733^1,2	--	--	154001783(+)	`cttaaC/Ggagca`	3	--	us2k¹ int¹		0	--	--	--	--
rs28379052^1,2	--	--	153991671(+)	`GAGCAC/GGGATA`	2	--	int¹		0	--	--	--	--
rs2853351^1,2	--	--	153997638(+)	`GATGAC/GGCTTG`	2	--	int¹		0	--	--	--	--
rs199422241^1,2	--	pathogenic	153991099(+)	`CTCCTC/GCCGCC`	2	--	ut5¹		0	--	--	--	--
rs200416546^1,2	--	--	153990048(+)	`GGCCAC/TGGGTC`	2	--	us2k¹		0	--	--	--	--
rs3901158^1,2	--	--	154001748(-)	`agtacC/Tcaggg`	3	--	int¹ us2k¹		0	--	--	--	--
rs112159031^1,2	--	--	153996917(+)	`CATTTA/GCCTCC`	4	--	int¹ nc-transcript-variant		1		CSA	1
rs2853349^1,2	--	--	153996349(+)	`CTTGAC/TCTCCT`	4	--	us2k¹ int¹		0	--	--	--	--
rs121912306^1,2	--	untested	153994224(+)	`CACCTC/TTTGCA`	4	L F	mis¹		0	--	--	--	--
rs140273992^1,2	--	--	153999094(+)	`AGGACG/AGCATT`	4	/S /G	mis¹		1		NA	4552
rs202088795^1,2	--	--	153992443(+)	`AAAAAA/TTTATA`	2	--	int¹		0	--	--	--	--
rs79040127^1,2	--	--	153999980(+)	`TGTTGC/TAAATA`	2	--	int¹		0	--	--	--	--
rs113584393^1,2	--	--	153996090(+)	`GTTAAA/CAATTC`	4	--	us2k¹ int¹		0	--	--	--	--
rs4898350^1,2	--	--	153992051(+)	`ttcaaA/Ccctgg`	2	--	int¹		0	--	--	--	--
rs199422247^1,2	--	pathogenic	153997581(+)	`AGACAA/GTGCAG`	4	N S	mis¹		0	--	--	--	--
rs199422246^1,2	--	pathogenic	153995295(+)	`TTGTCC/TGGCTG`	6	R W	mis¹ us2k¹		0	--	--	--	--
rs138410549^1,2	--	--	154005135(+)	`GGTTTC/ATGAGT`	4	/Y /S	mis¹		1		NA	3836
rs111272681^1,2	--	--	153993048(+)	`TTATGC/TGGCAT`	2	--	int¹		1		CSA	2
rs34516189^1,2	--	--	153992445(+)	`ATATA-/TAAATAT`	2	--	int¹		0	--	--	--	--
rs140714103^1,2	--	--	153994626(+)	`TTAATC/TGTGTG`	4	I	syn¹		1		NA	4550
rs202203976^1,2	--	--	154001559(+)	`AGGTTC/TTTTTT`	3	--	int¹ us2k¹		0	--	--	--	--
rs199422254^1,2	--	pathogenic	154002944(+)	`CAGCAC/TACCTG`	5	T I	mis¹ us2k¹		0	--	--	--	--
rs143209714^1,2	--	--	154004491(+)	`AGTGAC/TGAGAC`	4	D	syn¹		1		NA	4544
rs201132793^1,2	--	--	154001330(+)	`ATACAA/GCAGTA`	3	--	us2k¹ int¹		0	--	--	--	--
rs113148648^1,2	--	--	154004844(+)	`TGGAGG/AGGATG`	2	--	int¹		1		CSA	2
rs58087354^1,2	--	--	153999761(+)	`TTTTT-/TGTACC`	2	--	int¹		0	--	--	--	--
rs34255028^1,2	--	--	153989545(+)	`TTTTT-/TAGCAA`	2	--	us2k¹		0	--	--	--	--
rs112121277^1,2	--	--	153999155(+)	`CATGGC/GTAAGA`	2	--	spd¹		0	--	--	--	--
rs199957716^1,2	--	--	153993809(+)	`AGGTAC/TGTGGT`	2	--	int¹		0	--	--	--	--
rs111957777^1,2	--	--	153993577(+)	`TCTTCC/TCTCTC`	2	--	int¹		1		CSA	2
rs7471647^1,2	--	--	153992176(+)	`cgcggA/Tggctc`	2	--	int¹		0	--	--	--	--
rs150045442^1,2	--	--	153998743(+)	`AAATT-/AAAAAA`	2	--	int¹		0	--	--	--	--
rs35962335^1,2	--	--	153999463(+)	`TTTTT-/TGAGAC`	2	--	int¹		0	--	--	--	--
rs76390575^1,2	--	--	153996092(+)	`TAAAAT/ATTCTG`	4	--	int¹ us2k¹		1		NA	2
rs11351403^1,2	--	--	154001560(+)	`TTTTT-/TTTTTT`	3	--	int¹ us2k¹ trp³		0	--	--	--	--
rs77570446^1,2	--	--	153999472(-)	`AAAAAA/GAAAAA`	2	--	int¹		0	--	--	--	--
rs199422249^1,2	--	pathogenic	154001444(+)	`CCTGCA/GACCAT`	5	N D	mis¹ us2k¹		0	--	--	--	--
rs3926731^1,2	--	--	154001737(+)	`agtgtC/Ttgtgt`	3	--	us2k¹ int¹		0	--	--	--	--
rs77220939^1,2	--	--	153995116(+)	`CATCAG/TCACCA`	4	--	int¹ us2k¹		1		NA	2
rs5945236^1,2	--	--	153999817(+)	`cactaA/Ccctcc`	2	--	int¹		0	--	--	--	--
rs111541403^1,2	--	--	154002548(+)	`ACACCG/TGTGTG`	3	--	us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DKC1 (153991031 - 154005964 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DKC1: --
Human Gene Mutation Database (HGMD): DKC1

Locus Specific Mutation Databases (LSDB): DKC1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DKC1

DNA2.0 Custom Variant and Variant Library Synthesis for DKC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DKC1 for disorders           About GeneDecksing

OMIM gene information: 300126
OMIM disorders: 305000  300240
UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832

Defects in DKC1 are a cause of dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]. XDKC is a rare,

progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail

dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal

pulmonary complications, or malignancy

Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]. HHS is a multisystem

disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar

hypoplasia, and growth retardation

20/32 diseases for DKC1 (see all 32): About MalaCards

dyskeratosis congenita hoyeraal-hreidarsson syndrome dyskeratosis dyskeratosis congenita-1

dyskeratosis congenita autosomal dominant leukoplakia dyskeratosis congenita x-linked spinal muscular atrophy

torch syndrome cerebellar hypoplasia severe combined immunodeficiency muscular atrophy

fanconi's anemia pancytopenia combined immunodeficiency intrauterine infections

aplastic anemia renal agenesis chronic lymphocytic leukemia lymphocytic leukemia

2 diseases from the University of Copenhagen DISEASES database for DKC1:

Dyskeratosis congenita pseudo-TORCH syndrome

10/13 Novoseek disease relationships for DKC1 gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dyskeratosis congenita	98.7	51	10903840 (2), 15304085 (2), 10556300 (2), 16427014 (2) (see all 42)
hoyeraal-hreidarsson syndrome	95.6	5	10903840 (1), 10583221 (1), 11491307 (1), 12833411 (1) (see all 5)
nail dystrophy	89.6	1	11833778 (1)
dyskeratosis congenita, autosomal dominant	81.8	1	14758110 (1)
leukoplakia	79.9	1	11833778 (1)
anemia aplastic	74.4	2	10583221 (1), 15814878 (1)
cerebellar hypoplasia	61.5	1	10583221 (1)
skin abnormalities	56.6	1	16690864 (1)
pancytopenia	49.4	1	11491307 (1)
fanconis anemia	46.5	1	10744426 (1)

Genatlas disease: DKC1

dyskeratosis congenita,X-linked recessive,characterized by early reticulate skin pigmentation,nail dystrophy,mucosal

leukoplakia and progressive bone-marrow failure,including any form of Bloch Sulzberger incontinentia pigmenti and an

increased susceptibility to a range of malignancies,including Hoyeraal-Hreidarsson syndrome,X-linked

recessive,aplastic anemia,immunodeficiency,microcephaly,cerebellar hypoplasia and growth retardation

Genetic Association Database (GAD): DKC1
Human Genome Epidemiology (HuGE) Navigator: DKC1 (2 documents)

Export disorders for DKC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DKC1 gene, integrated from 9 sources (see all 179):
(articles sorted by number of sources associating them with DKC1)

Utopia: connect your pdf to the dynamic
world of online information

Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. (PubMed id 9888995)^{1, 2, 3, 9} Hassock S.... Giannelli F. (1999)
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (PubMed id 9590285)^{1, 2, 3, 9} Heiss N.S.... Dokal I. (1998)
Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. (PubMed id 10903840)^{1, 2, 9} Heiss N.S....Poustka A. (2000)
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (PubMed id 10364516)^{1, 2, 9} Knight S.W.... Poustka A. (1999)
Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. (PubMed id 10556300)^{1, 2, 9} Heiss N.S....Poustka A. (1999)
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (PubMed id 10583221)^{1, 2, 9} Knight S.W....Dokal I. (1999)
Identification of a novel mutation in DKC1 in dyskeratosis congenita. (PubMed id 18802941)^{1, 2, 9} Kurnikova M....Shagin D. (2009)
hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202)^{1, 2, 9} Hoareau-Aveilla C....Henry Y. (2006)
Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. (PubMed id 16618814)^{1, 2, 9} Darzacq X.... Meier U.T. (2006)
A telomerase component is defective in the human disease dyskeratosis congenita. (PubMed id 10591218)^{1, 2, 9} Mitchell J.R.... Collins K. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1736	HGNC: 2890	AceView: DKC1	Ensembl:ENSG00000130826	euGenes: HUgn1736
ECgene: DKC1	Kegg: 1736	H-InvDB: DKC1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DKC1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DKC1	Genetics and Cytogenetics in Oncology and Haematology
DKC1base	http://bioinf.uta.fi/DKC1base/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DKC1

Intellectual Property for DKC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DKC1 gene:
Search GeneIP for patents involving DKC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for DKC1		OriGene shRNA RFP for DKC1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DKC1		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DKC1
	OriGene Protein Over-expression Lysate for DKC1		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for DKC1		OriGene 3'-UTR Clone for DKC1
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DKC1		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DKC1
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for DKC1		OriGene Custom Protein Services for DKC1
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DKC1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DKC1
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DKC1
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DKC1
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DKC1
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DKC1

	GenScript Custom Purified and Recombinant Proteins Services for DKC1		GenScript cDNA clones with any tag delivered in your preferred vector for DKC1
	GenScript Custom Assay Services for DKC1		GenScript Custom Superior Antibodies Services for DKC1
	GenScript Custom overexpressing Cell Line Services for DKC1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in DKC1 promoter
	Search Chromatin IP Primers for DKC1
	RT² qPCR Primer Assay in human, mouse, rat DKC1
	GNC Network for DKC1
	SABiosciences PCR Arrays including human, mouse, rat DKC1

Search Tocris compounds for DKC1

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	DKC1 antibodies
	DKC1 proteins
	DKC1 lysates

	Antibodies for DKC1
	See all of Abcam's Antibodies, Kits and Proteins for DKC1
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

DKC1 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for DKC1

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DKC1

	SwitchGear 3'UTR luciferase reporter plasmids for DKC1
	SwitchGear Promoter luciferase reporter plasmids for DKC1

ThermoFisher Antibody for DKC1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DKC1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DKC1

Sirion Biotech Customized:

	stable knockdown cell line services for DKC1
	inducible knockdown cell line services for DKC1
	design and validation of potent shRNA sequences against DKC1
	adenovirus for potent knockdown of DKC1
	adenovirus for overexpression of DKC1
	stable overexpressing cell line services for DKC1
	inducible overexpressing cell line services for DKC1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes DKC1 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

DKC1 Gene

dyskeratosis congenita 1, dyskerin

Aliases
for DKC1 gene

Summaries
for DKC1 gene

Genomic Views
for DKC1 gene

Proteins
for DKC1 gene

Protein Domains /
Families
for DKC1 gene

Function
for DKC1 gene

Pathways & Interactions
for DKC1 gene

Drugs & Compounds
for DKC1 gene

Transcripts
for DKC1 gene

Expression
for DKC1 gene

Orthologs
for DKC1 gene

Paralogs
for DKC1 gene

Genomic Variants
for DKC1 gene

Disorders / Diseases
for DKC1 gene

Publications
for DKC1 gene

External Searches for DKC1 gene

Genome Databases showing DKC1 gene

Other Databases showing DKC1 gene

Specialized Databases showing DKC1 gene

Intellectual Property
for DKC1 gene

Products
for DKC1 gene

View Random Gene

Advanced Search

Export list of displayed genes

DKC1 Gene

dyskeratosis congenita 1, dyskerin

Aliasesfor DKC1 gene

Summariesfor DKC1 gene

Genomic Viewsfor DKC1 gene

Proteinsfor DKC1 gene

Protein Domains /Familiesfor DKC1 gene

Functionfor DKC1 gene

Pathways & Interactionsfor DKC1 gene

Drugs & Compoundsfor DKC1 gene

Transcriptsfor DKC1 gene

Expression for DKC1 gene

Orthologsfor DKC1 gene

Paralogsfor DKC1 gene

Genomic Variantsfor DKC1 gene

Disorders / Diseasesfor DKC1 gene

Publicationsfor DKC1 gene

External Searches for DKC1 gene

Genome Databases showing DKC1 gene

Other Databases showing DKC1 gene

Specialized Databases showing DKC1 gene

Intellectual Propertyfor DKC1 gene

Productsfor DKC1 gene

View Random Gene

Aliases
for DKC1 gene

Summaries
for DKC1 gene

Genomic Views
for DKC1 gene

Proteins
for DKC1 gene

Protein Domains /
Families
for DKC1 gene

Function
for DKC1 gene

Pathways & Interactions
for DKC1 gene

Drugs & Compounds
for DKC1 gene

Transcripts
for DKC1 gene

Expression
for DKC1 gene

Orthologs
for DKC1 gene

Paralogs
for DKC1 gene

Genomic Variants
for DKC1 gene

Disorders / Diseases
for DKC1 gene

Publications
for DKC1 gene

Intellectual Property
for DKC1 gene

Products
for DKC1 gene