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Description for Protein DDB1

damage-specific DNA binding protein 1, 127kDa
65 total interacting proteins; 21 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). 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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K10610
KEGG - Pathway(s):
hsa03420; hsa04120
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
DDB p127 subunit; DDBA; XAP1; XPCE; XPE BF; UV DDB1; UV-damaged DNA-binding protein 1; Xeroderma pigmentosum group E complementing protein; X-associated protein 1; Damage specific DNA binding protein 1
Approved Symbol:
DDB1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 6
Human (de-) phosphorylation sites: 6; 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:

None Available
Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 10952 Entrez Gene ID: 1642 OMIM ID: 600045 Swissprot Accession: Q16531;