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DKC1 Gene

protein-coding GIFtS: 69

GC0XP153554

dyskeratosis congenita 1, dyskerin
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: DKC)

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

Aliases
CBF5 ^²
DKC ^², ⁵
Dyskerin ^³
EC 5.4.99.- ^³
FLJ97620 ^²
NAP57 ^¹, ²
NOLA4 ^¹, ², ³
OTTHUMP00000026046 ^²
XAP101 ^¹, ²
dyskerin ^¹, ²

Descriptions
CBF5 homolog ^³
H/ACA ribonucleoprotein complex subunit 4 ^²
Nopp140-associated protein of 57 kDa ^², ³
Nucleolar protein NAP57 ^³
Nucleolar protein family A member 4 ^², ³
cbf5p homolog ^²
dyskeratosis congenita 1, dyskerin ^²
snoRNP protein DKC1 ^², ³

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

Search outside databases for aliases for DKC1 gene

Previous GC identifers: GC0XP148054 GC0XP150371 GC0XP151576 GC0XP152458

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

EntrezGene 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]

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832

Function: 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

Gene Wiki entry for DKC1 (Dyskerin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the DKC1 gene

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)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP153554: (about GC identifiers)

Start:	153,637,340 bp from pter
End:	153,659,159 bp from pter
Size:	21,820 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.9 NT_011726.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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,

SIP1/GEMIN2, 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, WDR79/TCAB1, NOP10, NHP2,

GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC)

Subcellular location: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies

(coiled bodies)

Secondary accessions: O43845 Q96G67 Q9Y505

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001135935.1 NP_001354.1

ENSEMBL proteins:

ENSP00000377168 ENSP00000377167 ENSP00000358563

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (DKC1)
	Human Recombinant Proteins from Abnova (DKC1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005654	nucleoplasm	TAS	10556300
GO:0005697	telomerase holoenzyme complex	IDA	12135483
GO:0005730	nucleolus	TAS	10556300

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Antibodies for DKC1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for DKC1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (DKC1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (DKC1)
	Novus Biologicals Antibodies for DKC1

Assays for DKC1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (DKC1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (DKC1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001142463

Applied Biosystems Silencer® siRNAs for DKC1

Sigma-Aldrich siRNA and siRNA Panels for DKC1

Sigma-Aldrich shRNA for DKC1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for DKC1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001142463
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001142463
untagged cDNA clones in CMV expression vector (see all 3): NM_001142463

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001363

UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832

Function: 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

Catalytic activity: RNA uridine = RNA pseudouridine

Enzyme Number (IUBMB): EC 5.4.99.-

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

15 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Dkc1):

adipose tissue	cellular	embryogenesis	growth/size	hematopoietic system
homeostasis/metabolism	immune system	lethality-prenatal/perinatal	no phenotypic analysis	normal
renal/urinary system	reproductive system	respiratory system	skin/coat/nails	tumorigenesis

5 Gene Ontology (GO) molecular function terms (links to tree view):

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 16618814
GO:0009982	pseudouridine synthase activity	IEA	--
GO:0016853	isomerase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for DKC1 (Your Favorite Gene powered by Ingenuity)

Pyrimidine Metabolism

GeneDecks DKC1 for the pathways selected above

About GeneDecksing

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

5/49 Interacting proteins for DKC1 (ENSP00000358563³ O60832^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 49 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RUVBL1	Q9Y265¹	STRING (score=.837) EBI-713091, EBI-353675
EEF1G	P26641²	MINT-63185
EIF3F	O00303²	MINT-63045
SSR1	P43307²	MINT-63758
TERT	ENSP00000309572³	STRING (score=.998)

About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001522	pseudouridine synthesis	IEA	--
GO:0006364	rRNA processing	TAS	10556300
GO:0006396	RNA processing	TAS	9590285
GO:0007004	telomere maintenance via telomerase	TAS	10591218
GO:0008283	cell proliferation	TAS	10591218

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for DKC1
3 Novoseek chemical compound relationships for DKC1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pseudouridine	85.93	4	12681984 (1), 10591218 (1), 15240872 (1), 16690864 (1)
uridine	53.48	1	15240872 (1)
rrna	48.16	4	12446766 (1), 15240872 (1), 15753647 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (DKC1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (DKC1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001142463

Sigma-Aldrich siRNA and siRNA Panels for DKC1

Sigma-Aldrich shRNA for DKC1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001142463 NM_001363

REFSEQ mRNAs for DKC1 gene (2 alternative transcripts):

NM_001142463.1 NM_001363.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001142463 NM_001363

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001142463
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001142463
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001142463

Additional cDNA sequence:

AF067008.1 AK225077.1 AK307672.1 BC009928.2 BC010015.2 CR594173.1 CR594895.1 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.92413831 DT.95360933 DT.97779593 DT.100848559 DT.92376532

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

BF817484 BM999763 BM980227 BF725797 C15908 BM789717 BU171151 BU849864

BU538384 CA455311 BQ009951 BC010015 AI754267 BG560813 BX439443 BU161216

AI185389 BE390870 CB132373 AI953143 AA744524 BQ430699 BM799563 BQ901156

highest scoring ESTs for DKC1:

U59151 AA052960 AA053442 AA126900 AA128076 AA213511 AA278563 AA282755 AA284167 AA327506

Unigene Cluster for DKC1:

Dyskeratosis congenita 1, dyskerin

Hs.4747 [show with all ESTs]

Unigene Representative Sequence: NM_001363

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for DKC1

3 Ensembl transcripts including schematic representations:

ENST00000393535 ENST00000393534 ENST00000369550

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

DKC1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for DKC1

¹ / ² / ³

7 probe-sets matching DKC1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
34829_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	U59151	1.00	0.87	0.94	1
201478_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U59151	1.00	0.87	0.94	1
201479_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001363	0.60	1.00	0.82	1
216212_s_at²	U133-A	1	1.00	1.00	--	--	--	--	--	--	--
201478_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201479_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216212_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.4747
Expression variation in blood from EXPOLDB for DKC1
UniProtKB/Swiss-Prot: DKC1_HUMAN, O60832
Tissue specificity: Ubiquitously expressed

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for DKC1 gene from 5/26 species (see all 26 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	DKC1¹	--	dyskeratosis congenita 1, dyskerin	89.68(n) 93.29(a)	492263 XM_549382.2 XP_549382.2
chimpanzee (Pan troglodytes)	DKC1¹	--	dyskeratosis congenita 1, dyskerin	98.96(n) 98.83(a)	465948 XM_521345.2 XP_521345.2
cow (Bos taurus)	DKC1¹	--	dyskeratosis congenita 1, dyskerin	89.06(n) 93.68(a)	525619 XM_864004.2 XP_869097.1
mouse (Mus musculus)	Dkc1⁵ Dkc1¹	X⁵	dyskeratosis congenita 1, dyskerin homolog (human)^{1, 5}	89.06(n)¹ 91.94(a)¹	245474¹ NM_001030307.1¹ NP_001025478.1¹ AJ250972⁵ AJ250973⁵ (see all 25)
chicken (Gallus gallus)	DKC1¹	--	dyskeratosis congenita 1, dyskerin	75.82(n) 82.97(a)	422196 NM_001031115.1 NP_001026286.1

About this table Species with no ortholog for DKC1

ENSEMBL Gene Tree for DKC1

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

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/75 NCBI SNPs in DKC1 are shown (see all 75 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 37)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs5987020^1,2	A,F,H	153643929(+)	`AAAGGC/GCTTTC`	1	--	ng5¹		4	EU EA WA	418
	rs1800533^1,2	C,F,H	153658342(+)	`TGAAGG/ACCACT`	1	--	ut3¹ ese³		4	EU EA WA	420
--	rs11558982^1,2	C,H	153647713(+)	`AGCCCT/CCTAAC`	1	P/S	mis¹ ese³		8	EU EA WA	713
	rs2853347^1,2	C,H	153647431(+)	`TGGTTC/AAAATC`	1	X/S	non¹ ese³		4	EU EA WA	418
	rs2728534^1,2	C,H	153649807(+)	`CTACAG/TTCGGA`	1	I/S	mis¹		8	EU EA WA	626
	rs2728533^1,2	C,H	153649798(+)	`GGCTGG/ACACCT`	1	D/G	mis¹ ese³		4	EU EA WA	416
--	rs2728726^1,2	C,H	153652273(+)	`GTGTTC/ATTCGA`	1	I/L	mis¹		4	EU EA WA	418
--	rs5945234^1,2	H	153649786(+)	`GGTGAG/ATTGTG`	1	N/S	mis¹		4	EU EA WA	406
	rs1127051^1,2	C,F,H	153657778(+)	`GGGGCC/TGAGCC`	1	A/A	syn¹		5	MN EA WA NA	556
	rs2853350^1,2	C,H	153650710(+)	`TACCTG/ACGGCG`	1	L/L	syn¹ ese³		4	EU EA WA	418

About this table

HapMap Linkage Disequilibrium images for DKC1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300126 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

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
dyskeratosis congenita	98.59	39	10903840 (2), 15304085 (2), 10556300 (2), 16427014 (2) (see all 32)
hoyeraal-hreidarsson syndrome	96.48	5	10903840 (1), 10583221 (1), 11491307 (1), 12833411 (1) (see all 5)
nail dystrophy	89.56	1	11833778 (1)
dyskeratosis congenita, autosomal dominant	83.29	1	14758110 (1)
leukoplakia	80.34	1	11833778 (1)
anemia aplastic	74.15	2	10583221 (1), 15814878 (1)
cerebellar hypoplasia	64.03	1	10583221 (1)
skin abnormalities	59.33	1	16690864 (1)
pancytopenia	46.46	1	11491307 (1)
fanconis anemia	38.87	1	10744426 (1)

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1 PharmGKB disease relationship for DKC1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

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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

Human Gene Mutation Database: DKC1
Genetic Association Database: DKC1
Human Genome Epidemiology Navigator: DKC1 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Measurement of Telomere Length Can Diagnose Dyskeratosis Congenita, a Form of Aplastic Anemia

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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23/130 PubMed articles for DKC1 gene (see all 130 ):

Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. (PubMed id 9888995)^{1, 2, 3, 4} 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, 4} Heiss N.S.... Dokal I. (1998)
Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. (PubMed id 10903840)^{1, 3, 4} Heiss N.S....Poustka A. (2000)
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (PubMed id 10364516)^{1, 3, 4} 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, 3, 4} 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, 3, 4} Knight S.W....Dokal I. (1999)
hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202)^{1, 3, 4} Hoareau-Aveilla C....Henry Y. (2006)
Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. (PubMed id 16618814)^{1, 3, 4} Darzacq X....Meier U.T. (2006)
A telomerase component is defective in the human disease dyskeratosis congenita. (PubMed id 10591218)^{1, 3, 4} Mitchell J.R.... Collins K. (1999)
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878)^{1, 3, 6} Yamaguchi H.... Young N.S. (2005)
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. (PubMed id 12437656)^{3, 4} Cossu F.... Dokal I. (2002)
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. (PubMed id 11379875)^{1, 3} Knight S.W....Dokal I. (2001)
Identification of a novel mutation in DKC1 in dyskeratosis congenita. (PubMed id 18802941)^{1, 3} Kurnikova M....Shagin D. (2009)
Real-time PCR quantification of human DKC1 expression in colorectal cancer. (PubMed id 18607840)^{1, 3} Turano M....Furia M. (2008)
An intronic mutation in DKC1 in an infant with Hoyeraal-Hreidarsson syndrome. (PubMed id 18627054)^{1, 3} Pearson T....Der Kaloustian V.M. (2008)
DKC1 is a direct and conserved transcriptional target of c-MYC. (PubMed id 17822678)³ Alawi F. and Lee M.N. (2007)
Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. (PubMed id 15304085)¹ Ding Y.G....Wang B.X. (2004)
DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. (PubMed id 12513020)¹ Lin J.H....Chao S.C. (2002)
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. (PubMed id 15842668)¹ Kanegane H....Miyawaki T. (2005)
A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. (PubMed id 12186364)¹ Hiramatsu H....Okuno T. (2002)
One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). (PubMed id 11491307)¹ Heiss N.S....Poustka A. (2001)
An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (PubMed id 19415813)¹ Balci S....Vulliamy T. (2009)
Mutation analysis of the DKC1 gene in incontinentia pigmenti. (PubMed id 10636732)¹ Heiss N.S....Kenwrick S. (1999)

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

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Name	Description
ATLAS Chromosomes in Cancer entry for DKC1	Genetics and Cytogenetics in Oncology and Haematology
DKC1base	http://bioinf.uta.fi/DKC1base/
GeneReviews	http://www.genetests.org/query?gene=DKC1

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DKC1 Gene

protein-coding GIFtS: 69

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Gene Index: 3 5 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

DKC1 Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor DKC1

Summariesfor DKC1

Genomic Locationfor DKC1

Proteinsfor DKC1

Protein Domains/Familiesfor DKC1

Gene Functionfor DKC1

Pathways & Interactionsfor DKC1

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Publicationsfor DKC1

Search for DKC1

Genome Databases showing DKC1

Other Databases showing DKC1

Specialized Databases showing DKC1

Licensable Technologiesfor DKC1

Servicesfor DKC1

Gene Index: 3 5 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

Aliases &
Descriptions
for DKC1

Summaries
for DKC1

Genomic Location
for DKC1

Proteins
for DKC1

Protein Domains/
Families
for DKC1

Gene Function
for DKC1

Pathways & Interactions
for DKC1

Drugs & Compounds
for DKC1

Transcripts
for DKC1

Expression
for DKC1

Orthologs
for DKC1

Paralogs
for DKC1

SNPs/Variants
for DKC1

Disorders & Mutations
for DKC1

Medical News
for DKC1

Publications
for DKC1

Licensable Technologies
for DKC1

Services
for DKC1