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DKC1

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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

Summary

 Mainly localized to the nucleoli (fibrillar center). In addition localized to the nucleus.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoli fibrillar center (supported)

Additional location

 In addition localized to the Nucleus (supported)

DATA RELIABILITY

Reliability score

 Supported based on 1 antibody.
HPA001022
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the nucleoli (fibrillar center). In addition localized to the nucleus.

Main location

 Nucleoli fibrillar center (supported)

Additional location

 Nucleus (supported)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA001022 A-431 Nucleus
Nucleoli fibrillar center
HPA001022 U-2 OS Nucleus
Nucleoli fibrillar center
HPA001022 U-251 MG Nucleus
Nucleoli fibrillar center

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
Show all
   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
Show all
   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
Show all
   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.