Protein Name damage specific DNA binding protein 1
Organism Homo sapiens
Gene ID 1642
Gene Symbol

DDB1

UniProt Q16531 (DDB1_HUMAN)
Relationships Total Number of functionally related compound(s) : 57
Total Number of Articles : 63
Description

damage specific DNA binding protein 1

Gene Summary

The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]

synonyms
  • DNA damage-binding protein 1
  • DDB p127 subunit
  • DNA damage-binding protein a
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Properties