DKC1

GENE INFORMATION

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Gene name

DKC1 (HGNC Symbol)

Synonyms

DKC, dyskerin, NAP57, NOLA4, XAP101

Description

dyskeratosis congenita 1, dyskerin (HGNC Symbol)

Entrez gene summary

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]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

153991031 - 154005964

Ensembl

ENSG00000130826 (version 73.37)

Entrez gene

1736

UniProt

O60832 (UniProt - Evidence at protein level)

neXtProt

NX_O60832

Antibodypedia

DKC1 antibodies
 

PROTEIN VIEW

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DKC1-001
 
DKC1-005
 
DKC1-008
 
DKC1-010
 
DKC1-011
 
DKC1-012
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DKC1-001 ENSP00000358563
ENST00000369550
O60832
Show all »
Show » Show » 514 57.7 No 0
DKC1-005 ENSP00000407253
ENST00000426673
Show » Show » 208 23.4 No 0
DKC1-008 ENSP00000400542
ENST00000413910
C9IYT0
Show all »
Show » Show » 259 29.8 No 0
DKC1-010 ENSP00000395693
ENST00000437719
Show » Show » 229 25.7 No 0
DKC1-011 ENSP00000389304
ENST00000412124
Show » 76 8.6 No 0
DKC1-012 ENSP00000407325
ENST00000452771
H7C2Q9
Show all »
Show » Show » 169 19.1 No 0