Protein Ercc1

URN	urn:agi-llid:2067
Connectivity	94
Name	Ercc1
Description	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Notes	The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq]

Pathway	nucleotide excision repair pathway

GO Molecular Function	hydrolase activity
	protein C-terminus binding
	protein domain specific binding
	DNA binding
	damaged DNA binding
	structure-specific DNA binding
	single-stranded DNA binding
	nuclease activity
	endonuclease activity
	single-stranded DNA specific endodeoxyribonuclease activity

GO Cellular Component	nucleoplasm
	nucleotide-excision repair complex
	nuclear chromosome, telomeric region
	nucleus

GO Biological Process	cell proliferation
	syncytium formation
	multicellular organism growth
	response to abiotic stimulus
	multicellular organismal aging
	cell development
	germ cell development
	male gonad development
	embryonic organ development
	post-embryonic hemopoiesis
	replicative cell aging
	spermatogenesis
	oogenesis
	chromosome organization
	negative regulation of telomere maintenance
	negative regulation of apoptosis
	isotype switching
	DNA recombination
	DNA repair
	nucleotide-excision repair, DNA incision, 3'-to lesion
	nucleotide-excision repair, DNA incision, 5'-to lesion
	nucleotide-excision repair
	double-strand break repair
	nucleotide-excision repair, DNA damage removal
	mitotic recombination
	pyrimidine dimer repair by nucleotide-excision repair
	response to DNA damage stimulus
	response to oxidative stress
	response to nutrient
	response to sucrose stimulus
	response to X-ray
	UV protection

Ariadne Ontology	DNA repair

Group	DNA repair
	cell proliferation
	syncytium formation
	multicellular organism growth
	response to abiotic stimulus
	multicellular organismal aging
	cell development
	germ cell development
	male gonad development
	embryonic organ development
	post-embryonic hemopoiesis
	replicative cell aging
	spermatogenesis
	oogenesis
	chromosome organization
	negative regulation of telomere maintenance
	negative regulation of apoptosis
	isotype switching
	DNA recombination
	DNA repair
	nucleotide-excision repair, DNA incision, 3'-to lesion
	nucleotide-excision repair, DNA incision, 5'-to lesion
	nucleotide-excision repair
	double-strand break repair
	nucleotide-excision repair, DNA damage removal
	mitotic recombination
	pyrimidine dimer repair by nucleotide-excision repair
	response to DNA damage stimulus
	response to oxidative stress
	response to nutrient
	response to sucrose stimulus
	response to X-ray
	UV protection
	hydrolase activity
	protein C-terminus binding
	protein domain specific binding
	DNA binding
	damaged DNA binding
	structure-specific DNA binding
	single-stranded DNA binding
	nuclease activity
	endonuclease activity
	single-stranded DNA specific endodeoxyribonuclease activity
	nucleoplasm
	nucleotide-excision repair complex
	nuclear chromosome, telomeric region
	nucleus

MedScan ID	2067

Hugo ID	3433

Human chromosome position	19q13.2-q13.3

Alias	UV20
	COFS4
	DNA excision repair protein ERCC-1
	Ercc-1
	excision repair 1
	excision repair cross-complementing 1
	DNA excision repair protein ERCC I
	Ercc I
	Ercc1
	excision repair cross-complementing I
	excision repair cross-complementing rodent repair deficiency, complementati
	excision repair cross-complementing rodent repair deficiency, complementation group 1
	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
	excision repair I

OMIM ID	126380
	610758

Mouse chromosome position	7 4.0 cM

Rat chromosome position	1q21

PIR ID	A32875

Cell Localization	Nucleus

Homologene ID	1501

RGD ID	1306992

MGI ID	95412