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DKC1

GENERAL INFORMATION

Gene name

 DKC1

Gene description

 Dyskeratosis congenita 1, dyskerin

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Ubiquitous nuclear and nucleolar expression.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA000166 , HPA000447 , CAB033086
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable), liver cancer (unfavourable), endometrial cancer (unfavourable), head and neck cancer (unfavourable) and melanoma (unfavourable).
Renal cancer p<0.001
Liver cancer p<0.001
Endometrial cancer p<0.001
Head and neck cancer p<0.001
Melanoma p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA000166
HPA000447
CAB033086

GENE INFORMATION

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)

 154762742 - 154777689

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000130826 (version 83.38)

Entrez gene

 1736

UniProt

 O60832 (UniProt - Evidence at protein level)

neXtProt

 NX_O60832

Antibodypedia

 DKC1 antibodies

PROTEIN BROWSER
DKC1-001
DKC1-008
DKC1-010
DKC1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DKC1-001
ENSP00000358563
ENST00000369550
O60832 [Direct mapping]
H/ACA ribonucleoprotein complex subunit 4
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   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000495 [box H/ACA snoRNA 3'-end processing]
GO:0000723 [telomere maintenance]
GO:0001522 [pseudouridine synthesis]
GO:0003720 [telomerase activity]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005697 [telomerase holoenzyme complex]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006364 [rRNA processing]
GO:0006396 [RNA processing]
GO:0007004 [telomere maintenance via telomerase]
GO:0008283 [cell proliferation]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
GO:0015030 [Cajal body]
GO:0031118 [rRNA pseudouridine synthesis]
GO:0031120 [snRNA pseudouridine synthesis]
GO:0031429 [box H/ACA snoRNP complex]
GO:0032212 [positive regulation of telomere maintenance via telomerase]
GO:0033979 [box H/ACA snoRNA metabolic process]
GO:0044822 [poly(A) RNA binding]
GO:0051973 [positive regulation of telomerase activity]
GO:0070034 [telomeric RNA binding]
GO:0072589 [box H/ACA scaRNP complex]
GO:1990481 [mRNA pseudouridine synthesis]
Show all
 514 aa
57.7 kDa 		No 0
DKC1-008
ENSP00000400542
ENST00000413910
C9IYT0 [Direct mapping]
H/ACA ribonucleoprotein complex subunit 4
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000495 [box H/ACA snoRNA 3'-end processing]
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0006396 [RNA processing]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
GO:0031118 [rRNA pseudouridine synthesis]
GO:0031120 [snRNA pseudouridine synthesis]
GO:0031429 [box H/ACA snoRNP complex]
GO:1990481 [mRNA pseudouridine synthesis]
Show all
 259 aa
29.8 kDa 		No 0
DKC1-010
ENSP00000395693
ENST00000437719
H7C0M1 [Direct mapping]
H/ACA ribonucleoprotein complex subunit 4
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   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000495 [box H/ACA snoRNA 3'-end processing]
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0006396 [RNA processing]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
GO:0016021 [integral component of membrane]
GO:0031118 [rRNA pseudouridine synthesis]
GO:0031120 [snRNA pseudouridine synthesis]
GO:0031429 [box H/ACA snoRNP complex]
GO:1990481 [mRNA pseudouridine synthesis]
Show all
 229 aa
25.7 kDa 		No 0
DKC1-201
ENSP00000478387
ENST00000620277
O60832 [Direct mapping]
H/ACA ribonucleoprotein complex subunit 4
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000495 [box H/ACA snoRNA 3'-end processing]
GO:0000723 [telomere maintenance]
GO:0001522 [pseudouridine synthesis]
GO:0003720 [telomerase activity]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005697 [telomerase holoenzyme complex]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006364 [rRNA processing]
GO:0006396 [RNA processing]
GO:0007004 [telomere maintenance via telomerase]
GO:0008283 [cell proliferation]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
GO:0031118 [rRNA pseudouridine synthesis]
GO:0031120 [snRNA pseudouridine synthesis]
GO:0031429 [box H/ACA snoRNP complex]
GO:0044822 [poly(A) RNA binding]
GO:0070034 [telomeric RNA binding]
GO:0072589 [box H/ACA scaRNP complex]
GO:1990481 [mRNA pseudouridine synthesis]
Show all
 420 aa
47.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.