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ERCC8

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GENERAL INFORMATION

Gene name

 ERCC8

Gene description

 Excision repair cross-complementation group 8

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the nuclear speckles.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nuclear speckles (approved)

DATA RELIABILITY

Reliability score

 Approved based on 1 antibody.
HPA029328
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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 nuclear speckles.

Main location

 Nuclear speckles (approved)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA029328 A549 Nuclear speckles
Cytosol
HPA029328 MCF7 Nuclear speckles

GENE INFORMATION

Gene name

 ERCC8 (HGNC Symbol)

Synonyms

 CKN1, CSA

Description

 Excision repair cross-complementation group 8 (HGNC Symbol)

Entrez gene summary

 This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

Chromosome

 5

Cytoband

 q12.1

Chromosome location (bp)

 60873831 - 60945073

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000049167 (version 83.38)

Entrez gene

 1161

UniProt

 Q13216 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13216

Antibodypedia

 ERCC8 antibodies

PROTEIN BROWSER
ERCC8-001
ERCC8-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ERCC8-001
ENSP00000265038
ENST00000265038
Q13216 [Direct mapping]
DNA excision repair protein ERCC-8
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Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
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GO:0000109 [nucleotide-excision repair complex]
GO:0000209 [protein polyubiquitination]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006283 [transcription-coupled nucleotide-excision repair]
GO:0006289 [nucleotide-excision repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0006979 [response to oxidative stress]
GO:0009411 [response to UV]
GO:0010165 [response to X-ray]
GO:0016363 [nuclear matrix]
GO:0031464 [Cul4A-RING E3 ubiquitin ligase complex]
GO:0032403 [protein complex binding]
GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process]
GO:0043234 [protein complex]
GO:0045739 [positive regulation of DNA repair]
GO:0051865 [protein autoubiquitination]
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 396 aa
44.1 kDa 		No 0
ERCC8-005
ENSP00000408344
ENST00000439176
C9JNT2 [Direct mapping]
DNA excision repair protein ERCC-8
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 134 aa
15 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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