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 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]

Chromosome

X

Cytoband

q28

Chromosome location (bp)

153991031 - 154005964

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000130826 (version 75.37)

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 » Show » 76 8.6 No 0
DKC1-012 ENSP00000407325
ENST00000452771
H7C2Q9
Show all »
Show » Show » 169 19.1 No 0