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FLASH GENE

Symbol

ERCC1

contributors: mct/pgu - updated : 06-06-2015

HGNC name	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
HGNC id	3433

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_202001 8 - 1291 NP_973730 35.4 323 - 2001 11160918 isoform 1 NM_001983 10 - 3400 NP_001974 32.4 297 - 2001 11160918 isoform 2 NM_001166049 - - 3328 NP_001159521 - 273 - 2001 11160918

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system breast mammary gland   highly   male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage
cell lines	specific for leukemic blasts
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	zinc finger domain
	helix hairpin helix motif
	C-terminal ERCC4 nuclease domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to yeast RAD10

Homologene

FAMILY

ERCC1/RAD10/SWI10 family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome,telomere

basic FUNCTION	cleaving at duplex-single-stranded DNA junctions, making an incision on the 5' side of the lesion in nucleotide excision repair
	playing a role in removal of long non-homologous tails during targeted homologous recombination
	playing an essential role for DNA binding
	playing a role after creation of a double strand break for full activation of the Fanconi anemia pathway
	participates in the Fanconi anemia pathway of cross-link repair
	needed for stabilizing and enhancing ERCC4 endonuclease activity
	new role for ERCC1 distinct from its known function in DNA repair, which may be independent of XRCC4 and its role in mitotic progression may be critical during development
	removes cisplatin-induced DNA adducts and has been related with prognosis and cisplatin response
	ERCC1/ERCC4 is a heterodimeric, structure-specific endonuclease that cleaves single-stranded/double-stranded DNA junctions and has roles in nucleotide excision repair (NER), interstrand crosslink (ICL) repair, homologous recombination, and possibly other pathways
	DCLRE1C and ERCC4-ERCC1 can also induce stalled DNA replication forks cleavage through non-epistatic pathways all along S and G2 phases of the cell cycle

CELLULAR PROCESS	nucleotide, recombination
	nucleotide, repair, nucleotide excision repair

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	forming a structure specific DNA endonuclease complex with ERCC4/XPF at sites of DNA damage, required for completion of homologous recombination at DNA replication forks stalled by inter-strand cross-links
	complexing with XPA (complex essential for nucleotide excision repair activity)

INTERACTION

DNA

binding

RNA

small molecule

protein	collaboration between DCLRE1A and ERCC4-ERCC1 is necessary to initiate ICL repair in replicating human cells
	interaction between ERCC1 and XPA is essential for a successful NER function

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COFS4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in sqamous cell carcinoma of the head and neck tumoral     --over   associated to overexpression of RRM1, in early-stage non-small-cell lung cancer with excellent outcome tumoral     --over   might be a favourable prognostic and a drug resistance predictive factor for non-small cell lung cancer constitutional       loss of function leading to downregulation of forebrain cholesterol biosynthesis genes

Susceptibility

to melanoma to poor prognosis of non-small cell lung cancer

Variant & Polymorphism other	significant associations with the strongest associations for melanoma cases aged 50 and under
	ERCC1 C8092A polymorphism may influence the non-small cell lung cancer patients prognosis regardless of the ERCC1 protein expression and platinum sensitivity

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Ercc1-knockout mice, survive for up to 4 weeks after birth
	Ercc1 deficient mice show severe growth retardation associated with premature replicative senescence leading to liver failure and death at four weeks of age