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ERCC5

GENERAL INFORMATION

Gene name

 ERCC5

Gene description

 Excision repair cross-complementation group 5

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

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

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous nuclear and cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.

Reliability score

 Supported based on 2 antibodies.
HPA045845 , HPA050374
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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
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: Expressed in all
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

 ERCC5 (HGNC Symbol)

Synonyms

 ERCM2, XPGC

Description

 Excision repair cross-complementation group 5 (HGNC Symbol)

Entrez gene summary

 This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

Chromosome

 13

Cytoband

 q33.1

Chromosome location (bp)

 102844844 - 102876001

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000134899 (version 83.38)

Entrez gene

 2073

UniProt

 P28715 (UniProt - Evidence at protein level)

neXtProt

 NX_P28715

Antibodypedia

 ERCC5 antibodies

PROTEIN BROWSER
ERCC5-001
ERCC5-006
ERCC5-201
ERCC5-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ERCC5-001
ENSP00000347978
ENST00000355739
P28715 [Direct mapping]
DNA repair protein complementing XP-G cells
Show all
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:0000405 [bubble DNA binding]
GO:0003677 [DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0003824 [catalytic activity]
GO:0004518 [nuclease activity]
GO:0004519 [endonuclease activity]
GO:0004520 [endodeoxyribonuclease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005662 [DNA replication factor A complex]
GO:0005675 [holo TFIIH 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:0009411 [response to UV]
GO:0009650 [UV protection]
GO:0010225 [response to UV-C]
GO:0016591 [DNA-directed RNA polymerase II, holoenzyme]
GO:0016788 [hydrolase activity, acting on ester bonds]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0042803 [protein homodimerization activity]
GO:0043066 [negative regulation of apoptotic process]
GO:0045111 [intermediate filament cytoskeleton]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0070911 [global genome nucleotide-excision repair]
Show all
 1186 aa
133.1 kDa 		No 0
ERCC5-006
ENSP00000365121
ENST00000375954
P28715 [Direct mapping]
DNA repair protein complementing XP-G cells
Show all
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:0000405 [bubble DNA binding]
GO:0003677 [DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0003824 [catalytic activity]
GO:0004518 [nuclease activity]
GO:0004520 [endodeoxyribonuclease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005662 [DNA replication factor A complex]
GO:0005675 [holo TFIIH 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:0009411 [response to UV]
GO:0009650 [UV protection]
GO:0010225 [response to UV-C]
GO:0016591 [DNA-directed RNA polymerase II, holoenzyme]
GO:0016788 [hydrolase activity, acting on ester bonds]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0042803 [protein homodimerization activity]
GO:0043066 [negative regulation of apoptotic process]
GO:0045111 [intermediate filament cytoskeleton]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0070911 [global genome nucleotide-excision repair]
Show all
 419 aa
47.3 kDa 		No 0
ERCC5-201
ENSP00000442117
ENST00000535557
P28715 [Direct mapping]
DNA repair protein complementing XP-G cells
Show all
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:0000405 [bubble DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0004518 [nuclease activity]
GO:0004520 [endodeoxyribonuclease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005662 [DNA replication factor A complex]
GO:0005675 [holo TFIIH 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:0009411 [response to UV]
GO:0009650 [UV protection]
GO:0010225 [response to UV-C]
GO:0016591 [DNA-directed RNA polymerase II, holoenzyme]
GO:0016788 [hydrolase activity, acting on ester bonds]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0042803 [protein homodimerization activity]
GO:0043066 [negative regulation of apoptotic process]
GO:0045111 [intermediate filament cytoskeleton]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0070911 [global genome nucleotide-excision repair]
Show all
 232 aa
27.3 kDa 		No 0
ERCC5-202
ENSP00000478667
ENST00000610537
A0A087WUH0 [Direct mapping]
DNA repair protein-complementing XP-G cells
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003697 [single-stranded DNA binding]
GO:0003824 [catalytic activity]
GO:0004518 [nuclease activity]
GO:0004519 [endonuclease activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006289 [nucleotide-excision repair]
GO:0016788 [hydrolase activity, acting on ester bonds]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 1185 aa
133.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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