ERCC1
entrez
2067
canonical
uniprot
P07992
canonical
ensembl
ENSG00000012061
resolver
ensp
ENSP00000013807
resolver
ensp
ENSP00000300853
resolver
ensp
ENSP00000345203
resolver
ensp
ENSP00000468035
resolver
ensp
ENSP00000569289
resolver
ensp
ENSP00000569290
resolver
ensp
ENSP00000569292
resolver
ensp
ENSP00000587633
resolver
ensp
ENSP00000639084
resolver
ensp
ENSP00000773563
resolver
ensp
ENSP00000773564
resolver
genesymbol
ERCC1
resolver
hgnc
HGNC:3433
resolver
uniprot
B2RC01
resolver
uniprot
B3KRR0
resolver
uniprot
Q7Z7F5
resolver
uniprot
Q96S40
resolver
uniprot_entry
ERCC1_HUMAN
resolver
uniprot_sec
B2RC01
resolver
uniprot_sec
B3KRR0
resolver
uniprot_sec
Q7Z7F5
resolver
uniprot_sec
Q96S40
resolver
amino_acid_sequence
MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17273966, ECO:0000269|PubMed:23623389}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:17273966, ECO:0000269|PubMed:23623389, ECO:0000269|PubMed:24036546}.; FUNCTION: [Isoform 2]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.; FUNCTION: [Isoform 3]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.; FUNCTION: [Isoform 4]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.
uniprot
proteins
mass_dalton
32562
uniprot
proteins
mutagenesis
MUTAGEN 221; /note="D->A: Impaired interaction with ERCC4."; /evidence="ECO:0000269|PubMed:32034146"; MUTAGEN 223; /note="L->A: Impaired interaction with ERCC4."; /evidence="ECO:0000269|PubMed:32034146"; MUTAGEN 224; /note="M->A: Impaired interaction with ERCC4."; /evidence="ECO:0000269|PubMed:32034146"; MUTAGEN 225; /note="E->A: Impaired interaction with ERCC4."; /evidence="ECO:0000269|PubMed:32034146"; MUTAGEN 227; /note="L->A: Impaired interaction with ERCC4."; /evidence="ECO:0000269|PubMed:32034146"; MUTAGEN 228; /note="E->A: Impaired interaction with ERCC4."; /evidence="ECO:0000269|PubMed:32034146
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated with both 'Lys-48' and 'Lys-63' linkages (PubMed:25538220). Deubiquitinated by USP45 (PubMed:25538220). {ECO:0000269|PubMed:25538220}.
uniprot
proteins
protein_family
ERCC1/RAD10/SWI10 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16076955
uniprot
proteins
pubmed
16338413
uniprot
proteins
pubmed
17273966
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23514287
uniprot
proteins
pubmed
23623389
uniprot
proteins
pubmed
24036546
uniprot
proteins
pubmed
2420469
uniprot
proteins
pubmed
25538220
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
3034490
uniprot
proteins
pubmed
32034146
uniprot
proteins
pubmed
9360634
uniprot
proteins
sequence_length
297
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus {ECO:0000269|PubMed:24036546}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:24036546}. Nucleus {ECO:0000269|PubMed:24036546}.; SUBCELLULAR LOCATION: [Isoform 3]: Nucleus {ECO:0000269|PubMed:24036546}.; SUBCELLULAR LOCATION: [Isoform 4]: Nucleus {ECO:0000269|PubMed:24036546}.
uniprot
proteins