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ERCC4

GENERAL INFORMATION

Gene name

 ERCC4

Gene description

 Excision repair cross-complementation group 4

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear expression in a majority of the tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
CAB000156
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ERCC4 (HGNC Symbol)

Synonyms

 FANCQ, RAD1, XPF

Description

 Excision repair cross-complementation group 4 (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

Chromosome

 16

Cytoband

 p13.12

Chromosome location (bp)

 13920157 - 13952345

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000175595 (version 83.38)

Entrez gene

 2072

UniProt

 Q92889 (UniProt - Evidence at protein level)

neXtProt

 NX_Q92889

Antibodypedia

 ERCC4 antibodies

PROTEIN BROWSER
ERCC4-001
ERCC4-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ERCC4-001
ENSP00000310520
ENST00000311895
Q92889 [Direct mapping]
DNA repair endonuclease XPF
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   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000109 [nucleotide-excision repair complex]
GO:0000110 [nucleotide-excision repair factor 1 complex]
GO:0000712 [resolution of meiotic recombination intermediates]
GO:0000723 [telomere maintenance]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000781 [chromosome, telomeric region]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0001094 [TFIID-class transcription factor binding]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003684 [damaged DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0004518 [nuclease activity]
GO:0004519 [endonuclease activity]
GO:0004520 [endodeoxyribonuclease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005669 [transcription factor TFIID complex]
GO:0006281 [DNA repair]
GO:0006283 [transcription-coupled nucleotide-excision repair]
GO:0006289 [nucleotide-excision repair]
GO:0006295 [nucleotide-excision repair, DNA incision, 3'-to lesion]
GO:0006296 [nucleotide-excision repair, DNA incision, 5'-to lesion]
GO:0006302 [double-strand break repair]
GO:0008022 [protein C-terminus binding]
GO:0009411 [response to UV]
GO:0009650 [UV protection]
GO:0032205 [negative regulation of telomere maintenance]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0034644 [cellular response to UV]
GO:0036297 [interstrand cross-link repair]
GO:0043566 [structure-specific DNA binding]
GO:0047485 [protein N-terminus binding]
GO:0070522 [ERCC4-ERCC1 complex]
GO:0070911 [global genome nucleotide-excision repair]
GO:1901255 [nucleotide-excision repair involved in interstrand cross-link repair]
Show all
 916 aa
104.5 kDa 		No 0
ERCC4-003
ENSP00000459933
ENST00000575156
Q92889 [Direct mapping]
DNA repair endonuclease XPF
Show all
   MEMSAT3 predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000109 [nucleotide-excision repair complex]
GO:0000110 [nucleotide-excision repair factor 1 complex]
GO:0000712 [resolution of meiotic recombination intermediates]
GO:0000723 [telomere maintenance]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000781 [chromosome, telomeric region]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0003684 [damaged DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0004520 [endodeoxyribonuclease 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:0006295 [nucleotide-excision repair, DNA incision, 3'-to lesion]
GO:0006296 [nucleotide-excision repair, DNA incision, 5'-to lesion]
GO:0006302 [double-strand break repair]
GO:0008022 [protein C-terminus binding]
GO:0009411 [response to UV]
GO:0032205 [negative regulation of telomere maintenance]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0034644 [cellular response to UV]
GO:0036297 [interstrand cross-link repair]
GO:0043566 [structure-specific DNA binding]
GO:0047485 [protein N-terminus binding]
GO:0070522 [ERCC4-ERCC1 complex]
GO:0070911 [global genome nucleotide-excision repair]
GO:1901255 [nucleotide-excision repair involved in interstrand cross-link repair]
Show all
 372 aa
42.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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