ERCC5

GENE INFORMATION

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Gene name

ERCC5 (HGNC Symbol)

Synonyms

ERCM2, XPGC

Description

excision repair cross-complementing rodent repair deficiency, 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 (Chromosome progress)

Cytoband

q33.1

Chromosome location (bp)

103497194 - 103528345

Ensembl

ENSG00000134899 (version 73.37)

Entrez gene

2073

UniProt

P28715 (UniProt - Evidence at protein level)

neXtProt

NX_P28715

Antibodypedia

ERCC5 antibodies
 

PROTEIN VIEW

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ERCC5-001
 
ERCC5-002
 
ERCC5-006
 
ERCC5-201
 
 
 
 
 

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)

ERCC5-001 ENSP00000347978
ENST00000355739
P28715
Show all »
Show » Show » 1186 133.1 No 0
ERCC5-002 ENSP00000436083
ENST00000472151
F2Z2A1
Show all »
Show » 43 4.8 No 0
ERCC5-006 ENSP00000365121
ENST00000375954
P28715
Show all »
Show » Show » 419 47.3 No 0
ERCC5-201 ENSP00000442117
ENST00000535557
Q9HD60
Show all »
Show » Show » 232 27.3 No 0