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Description for Protein ERCC1

excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
5 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K10849
KEGG - Pathway(s):
hsa03420
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Excision repair cross complementing 1 isoform 2; Excision repair cross complementing 1 isoform 1; DNA excision repair protein ERCC 1; Excision repair complementing defective in Chinese hamster 1; DNA repair defect UV-20 of Chinese hamster ovary cells complementation of; UV20; Excision repair cross complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence); Excision repair cross complementing 1; Excision repair protein
Approved Symbol:
ERCC1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Cerebrooculofacioskeletal syndrome 4(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00533 Entrez Gene ID: 2067 OMIM ID: 126380 Swissprot Accession: P07992; Q7Z7F5; Q96S40;