DKC1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous nuclear and nucleolar expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA000166 , HPA000447 , CAB033086
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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)

154762742 - 154777689

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000130826 (version 78.38)

Entrez gene

1736

UniProt

O60832 (UniProt - Evidence at protein level)

neXtProt

NX_O60832

Antibodypedia

DKC1 antibodies


PROTEIN BROWSER

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ENST00000369550
 
ENST00000413910
 
ENST00000437719
 
ENST00000620277
 
 
 
 


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
DKC1-008 ENSP00000400542
ENST00000413910
C9IYT0
Show all »
Show » Show » 259 29.8 No 0
DKC1-010 ENSP00000395693
ENST00000437719
Show » Show » 229 25.7 No 0
DKC1-201 ENSP00000478387
ENST00000620277
O60832
Show all »
Show » Show » 420 47.6 No 0