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DKC1 Gene

protein-coding GIFtS: 68
GCID: GC0XP153984

Dyskeratosis Congenita 1, Dyskerin

(Previous symbol: DKC)

Microbiology & Infectious Diseases Congress

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Dyskeratosis Congenita 1, Dyskerin¹ ²		DKCX² ⁵
DKC¹ ²		CBF5²
Nopp140-Associated Protein Of 57 KDa² ³		NAP57²
Nucleolar Protein Family A Member 4² ³		XAP101²
Nucleolar Protein NAP57² ³		H/ACA Ribonucleoprotein Complex Subunit 4²
NOLA4² ³		Dyskerin³
CBF5 Homolog² ³		EC 5.4.99.-³
SnoRNP Protein DKC1² 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DKC1 Gene:

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and

maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during

biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly

conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage

response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative

splicing results in multiple transcript variants. (provided by RefSeq, Jan 2014)

GeneCards Summary for DKC1 Gene:

DKC1 (dyskeratosis congenita 1, dyskerin) is a protein-coding gene. Diseases associated with DKC1 include leukoplakia, and dkc1-related dyskeratosis congenita. GO annotations related to this gene include telomerase activity and RNA binding.

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) Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000023.11 NC_018934.2 NT_011681.17

Regulatory elements:

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 Chromatin IP Primers for DKC1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

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

Explore proteomics data for DKC1 at MOPED

Post-translational modifications:

Ubiquitination² at Lys39, Lys80, Lys151, Lys191, Lys302, Lys394

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for DKC1 (O60832) (see all 14)

SHEVVAW

LDPKVTG

AVKRQLR

WPLLLKN

See DKC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts):

NP_001135935.1 NP_001275676.1 NP_001354.1

ENSEMBL proteins:

ENSP00000358563 ENSP00000400542 ENSP00000407325 ENSP00000395693 ENSP00000389304

ENSP00000407253

Reactome Protein details: O60832

DKC1 Human Recombinant Protein Products:

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	Novus Biologicals DKC1 Proteins Novus Biologicals DKC1 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.

DKC1 Antibody Products:

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	Novus Biologicals DKC1 Antibodies
	Abcam antibodies for DKC1
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	ThermoFisher Antibody for DKC1
	LSBio Antibodies in human, mouse, rat for DKC1

DKC1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for DKC1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DKC1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 7):

IPR004802 tRNA_PsdUridine_synth_B_fam

IPR002501 PsdUridine_synth

IPR012960 Dyskerin-like

IPR004521 Uncharacterised_CHP00451

IPR020103 PsdUridine_synth_cat_dom

Graphical View of Domain Structure for InterPro Entry O60832

ProtoNet protein and cluster: O60832

2 Blocks protein domains:

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

DKC1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003720	telomerase activity	IDA	12135483
GO:0003723	RNA binding	TAS	10591218
GO:0005515	protein binding	IPI	16601202
GO:0009982	pseudouridine synthase activity	IEA	--
GO:0044822	poly(A) RNA binding	IDA	--

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/body	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:
MGI mouse knock-outs for DKC1: Dkc1^tm1Ppp Dkc1^tm2.1Bsl Dkc1^tm1.1Bsl Dkc1^tm1.1Pjma

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DKC1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DKC1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DKC1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DKC1

miRNA Products:		miRTarBase miRNAs that target DKC1: hsa-mir-16-5p (MIRT031769), hsa-mir-935 (MIRT036690), hsa-mir-124-3p (MIRT022796)

		Block miRNA regulation of human, mouse, rat DKC1 using miScript Target Protectors
		8 qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for DKC1
		Predesigned siRNA for gene silencing in human, mouse, rat DKC1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DKC1

Clone Products:		OriGene clones in human, mouse for DKC1 (see all 13) OriGene ORF clones in mouse, rat for DKC1 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
		Browse ESI BIO Cell Lines and PureStem Progenitors for DKC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DKC1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

DKC1_HUMAN, O60832: Isoform 1: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies

(coiled bodies)

DKC1_HUMAN, O60832: Isoform 3: Cytoplasm

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytosol	2
mitochondrion	2
golgi apparatus	1
peroxisome	1

About this image

Gene Ontology (GO): Selected cellular component terms (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

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for DKC1 About (see all 6)

See pathways by source

SuperPath

Contained pathways About

Telomere C-strand (Lagging Strand) Synthesis

Extension of Telomeres

0.79

Telomere Extension By Telomerase

0.00

Packaging Of Telomere Ends

Telomere Maintenance

0.64

Chromosome Maintenance

0.62

Cell Cycle, Mitotic

Cell Cycle

0.90

Apoptotic Pathways in Synovial Fibroblasts

Telomerase Components in Cell Signaling

0.72

Ribosome biogenesis in eukaryotes

Ribosome biogenesis in eukaryotes

Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for DKC1

Telomerase Components in Cell Signaling

1 BioSystems Pathway for DKC1

Regulation of Telomerase

1 Reactome Pathway for DKC1

Telomere Extension By Telomerase

1 Kegg Pathway (Kegg details for DKC1):

Ribosome biogenesis in eukaryotes

DKC1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including DKC1:

Cancer PathwayFinder in human mouse rat

Telomeres & Telomerase in human mouse rat

Interactions:

GeneGlobe Interaction Network for DKC1

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

Selected Interacting proteins for DKC1 (O60832^{1, 2, 3} ENSP00000358563⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 288)

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): Selected biological process terms (see all 7): 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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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 inferred 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)

DKC1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DKC1 gene (3 alternative transcripts):

NM_001142463.2 NM_001288747.1 NM_001363.4

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

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat DKC1 using miScript Target Protectors
		8 qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for DKC1
		Predesigned siRNA for gene silencing in human, mouse, rat DKC1

Clone Products:		OriGene clones in human, mouse for DKC1 (see all 13) OriGene ORF clones in mouse, rat for DKC1 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 qPCR primer pairs and template standards for DKC1 OriGene qSTAR qPCR primer pairs in human, mouse for DKC1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DKC1
		QuantiTect SYBR Green Assays in human, mouse, rat DKC1
		QuantiFast Probe-based Assays in human, mouse, rat DKC1

Additional mRNA sequence:

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

Selected AceView cDNA sequences (see all 460):

BX327599 BQ775805 BM980227 BF110054 AI472325 AI857254 BG258928 BU944716

BE466199 AA588679 BG169362 BM789717 BI492412 AI081789 CB266071 AI754267

BM999763 BU171151 BF817484 BQ428360 AI344205 AI185389 BQ430699 CA425744

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DKC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

DKC1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 9) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 3 entries
Primary Oocyte Primary Follicle
Oviduct

Bone (Muscoskeletal System)
Bone Marrow

Gonad
Primary Oocyte Primary Follicle

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

DKC1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

DKC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.4747

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832

Tissue specificity: Ubiquitously expressed

Pathway & Disease-focused RT² Profiler PCR Arrays including DKC1:

Cancer PathwayFinder in human mouse rat

Telomeres & Telomerase in human mouse rat

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(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for DKC1 gene from Selected species (see all 29) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dkc1^{1 , 5}	dyskeratosis congenita 1, dyskerin homolog (human)⁵ dyskeratosis congenita 1, dyskerin¹	88.91(n)¹ 91.89(a)¹		X (38.15 cM)⁵ 245474¹ NM_001030307.2¹ NP_001025478.1¹ 75095854⁵
chicken (Gallus gallus)	Aves	DKC1¹	dyskeratosis congenita 1, dyskerin	76.77(n) 86.33(a)		422196 NM_001031115.1 NP_001026286.1
lizard (Anolis carolinensis)	Reptilia	DKC1⁶	dyskeratosis congenita 1, dyskerin	70(a)	1 ↔ 1	GL343202.1(2094155-2107621)
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 64.71(n)¹ 69.53(a)¹		60C2³ 37873¹ NM_001169818.3¹ NP_001163289.1¹
worm (Caenorhabditis elegans)	Secernentea	K01G5.5^{1 , 3}	centromere/microtubule binding protein³ K01G5.5¹	67(a)³ 61.79(n)¹ 66.13(a)¹		III(10820090-10821576)³ 176504¹ NM_066969.4¹ NP_499370.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CBF5(YLR175W)⁴ CBF5¹	Pseudouridine synthase catalytic subunit of box H/ACA more⁴ CBF5¹	61.48(n)¹ 66.51(a)¹		12(506134-507585)⁴ 850872^{1, 4} NP_013276.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	NAP57¹	NAP57	63.05(n) 66.98(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

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)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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,,4	C	Dyskeratosis congenita, X-linked (DKCX)⁴ pathogenic¹	153859637(+)	`CATGGC/TGGATG`	4	A V	mis¹		0	--	--	--	--
rs121912293^1,2,,4	C	Dyskeratosis congenita, X-linked (DKCX)⁴ pathogenic¹	153862132(+)	`AAGAAG/TTTCTT`	4	V F	mis¹		0	--	--	--	--
rs28936072^1,2,,4	C	Hoyeraal-Hreidarsson syndrome (HHS)⁴ pathogenic¹	153862139(+)	`TCTTAC/TCAAAC`	4	T I	mis¹ ese³		0	--	--	--	--
rs121912296^1,2,,4	C	Dyskeratosis congenita, X-linked (DKCX)⁴ pathogenic¹	153862141(+)	`TTATCA/GAACCT`	4	K E	mis¹		0	--	--	--	--
rs121912292^1,2,,4	C	Dyskeratosis congenita, X-linked (DKCX)⁴ pathogenic¹	153862145(+)	`CAAACC/GTGAAT`	4	P R	mis¹		0	--	--	--	--
rs121912302^1,2,,4	C	Dyskeratosis congenita, X-linked (DKCX)⁴ pathogenic¹	153862147(+)	`AACCTA/GAATCC`	4	K E	mis¹		0	--	--	--	--
rs121912304^1,2,,4	C	Hoyeraal-Hreidarsson syndrome (HHS)⁴ pathogenic¹	153862172(+)	`GGACAC/TGTCTC`	4	T M	mis¹		0	--	--	--	--
rs121912301^1,2,,4	C	Dyskeratosis congenita, X-linked (DKCX)⁴ pathogenic¹	153862596(+)	`TGTAAC/GGACAA`	4	T R	mis¹		0	--	--	--	--
rs121912297^1,2,,4	C	Dyskeratosis congenita, X-linked (DKCX)⁴ pathogenic¹	153862598(+)	`TAAGGA/GCAACA`	4	T A	mis¹		0	--	--	--	--
rs121912305^1,2,,4	C	Hoyeraal-Hreidarsson syndrome (HHS)⁴ pathogenic¹	153862980(+)	`GGCACA/GGTGGT`	4	S G	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DKC1 (153991031 - 154005964 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for DKC1: About this table

Variant ID	Type	Subtype	PubMed ID
esv33784	CNV	Gain+Loss	17666407

Human Gene Mutation Database (HGMD): DKC1
Locus Specific Mutation Databases (LSDB): DKC1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 300126
OMIM disorders: 305000
UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832

Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]: 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.

Note=The disease is caused by mutations affecting the gene represented in this entry

Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]: A clinically severe variant of dyskeratosis congenita

that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood.

Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed

development, and bone marrow failure resulting in immunodeficiency. Note=The disease is caused by mutations

affecting the gene represented in this entry

Selected diseases for DKC1 (see all 31):
About MalaCards

leukoplakia dkc1-related dyskeratosis congenita dyskeratosis congenita x-linked torch syndrome

pancytopenia intrauterine infections pseudo-torch syndrome dyskeratosis congenita

cerebellar hypoplasia dyskeratosis congenita, autosomal recessive 4 aplastic anemia renal agenesis

fanconi's anemia spinal muscular atrophy severe combined immunodeficiency muscular atrophy

microcephaly colon adenocarcinoma malignant glioma chronic lymphocytic leukemia

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

Dyskeratosis congenita pseudo-TORCH syndrome

DKC1 for disorders About GeneDecksing

Selected Novoseek inferred 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), 15917199 (1), 16470156 (1), 12186364 (1), 17468339 (1), 18802941 (1), 20501855 (1), 15240872 (1), 16841302 (1), 15842668 (1), 14758110 (1), 19755982 (1), 15789197 (1), 12513020 (1), 11833778 (1), 9888995 (1), 19879169 (1), 20453831 (1), 18252230 (1), 16690864 (1), 10087258 (1), 20008900 (1), 20079002 (1), 19835419 (1), 19729012 (1), 18989882 (1), 18057229 (1), 12736709 (1), 19734544 (1), 19391112 (1), 18239083 (1), 17135485 (1), 11379875 (1), 19415813 (1), 18212040 (1), 10583221 (1), 10591218 (1), 10364516 (1), 11491307 (1) (see top 4)
hoyeraal-hreidarsson syndrome	95.6	5	10903840 (1), 10583221 (1), 11491307 (1), 12833411 (1), 17663679 (1) (see top 4)
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)
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PubMed articles for DKC1 gene, integrated from 10 sources (see all 193):
(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. (Genomics 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. (Nat. Genet. 1998)
Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. (PubMed id 10903840)^{1, 2, 9} Heiss N.S....Poustka A. (Genomics 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. (Am. J. Hum. Genet. 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. (Hum. Mol. Genet. 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. (Br. J. Haematol. 1999)
Identification of a novel mutation in DKC1 in dyskeratosis congenita. (PubMed id 18802941)^{1, 2, 9} Kurnikova M....Shagin D. (Pediatr. Blood Cancer 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. (RNA 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. (J. Cell Biol. 2006)
A telomerase component is defective in the human disease dyskeratosis congenita. (PubMed id 10591218)^{1, 2, 9} Mitchell J.R.... Collins K. (Nature 1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 1736	HGNC: 2890	AceView: DKC1	Ensembl:ENSG00000130826	euGenes: HUgn1736
ECgene: DKC1	Kegg: 1736	H-InvDB: DKC1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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/books/NBK1116/?term=DKC1[genesymbol]

Intellectual Property for DKC1 gene
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Patent Information for DKC1 gene:
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GeneCards and IP:
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DKC1 Gene

Dyskeratosis Congenita 1, Dyskerin

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DKC1 Gene

Dyskeratosis Congenita 1, Dyskerin

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