InnateDB Protein
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IDBP-57515.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ERCC1
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Protein Name
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excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
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Synonyms
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COFS4; RAD10; UV20;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000013807
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InnateDB Gene
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IDBG-57509 (ERCC1)
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Protein Structure
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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.
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Subcellular Localization |
Isoform 1: Nucleus.Isoform 2: Cytoplasm. Nucleus.Isoform 3: Nucleus.Isoform 4: Nucleus.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
25
[view]
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Protein-Protein |
23
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004579
DNA repair protein rad10
IPR010994
RuvA domain 2-like
IPR011335
Restriction endonuclease type II-like
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PFAM |
PF03834
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P07992
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PhosphoSite |
PhosphoSite-P07992
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TrEMBL |
Q8WWH8
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UniProt Splice Variant |
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Entrez Gene |
2067
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UniGene |
Hs.672821
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RefSeq |
NP_973730
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HUGO |
HGNC:3433
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OMIM |
126380
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CCDS |
CCDS12663
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HPRD |
00533
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IMGT |
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EMBL |
AB069681
AC092309
AC138128
AC138534
AC139353
AF001925
AF433652
AF512555
AK092039
AK314884
BC008930
BC052813
BT019806
CH471126
M13194
M26163
M28650
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GenPept |
AAA35810
AAA52394
AAA52395
AAC16253
AAH08930
AAH52813
AAL56574
AAM34796
AAV38609
BAB62810
BAG37398
BAG52472
EAW57349
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