InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ERCC1

Summary

InnateDB Protein

IDBP-57511.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ERCC1

Protein Name

excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

Synonyms

COFS4; RAD10; UV20;

Species

Homo sapiens

Ensembl Protein

ENSP00000300853

InnateDB Gene

IDBG-57509 (ERCC1)

Protein Structure

UniProt Annotation

Function

Isoform 1: Non-catalytic component of a structure- specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4.

Subcellular Localization

Isoform 1: Nucleus.Isoform 2: Cytoplasm. Nucleus.Isoform 3: Nucleus.Isoform 4: Nucleus.

Disease Associations

Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758]: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. {ECO:0000269PubMed:17273966, ECO:0000269PubMed:23623389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.

Experimentally validated
Total	25 [view]
Protein-Protein	23 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000014	single-stranded DNA endodeoxyribonuclease activity
GO:0003677	DNA binding
GO:0003684	damaged DNA binding
GO:0003697	single-stranded DNA binding
GO:0004519	endonuclease activity
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0019904	protein domain specific binding
GO:0043566	structure-specific DNA binding

Biological Process

GO:0000718	nucleotide-excision repair, DNA damage removal
GO:0000737	DNA catabolic process, endonucleolytic
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:0006310	DNA recombination
GO:0006312	mitotic recombination
GO:0006979	response to oxidative stress
GO:0032205	negative regulation of telomere maintenance
GO:0090305	nucleic acid phosphodiester bond hydrolysis