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Damage-specific DNA binding protein 1, 127kDa (HGNC Symbol)
Entrez 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]
Q16531 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000715 [nucleotide-excision repair, DNA damage recognition] GO:0000784 [nuclear chromosome, telomeric region] GO:0003676 [nucleic acid binding] GO:0003677 [DNA binding] GO:0003684 [damaged DNA binding] GO:0005515 [protein binding] GO:0005615 [extracellular space] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006281 [DNA repair] GO:0006283 [transcription-coupled nucleotide-excision repair] GO:0006289 [nucleotide-excision repair] GO:0016032 [viral process] GO:0016055 [Wnt signaling pathway] GO:0019985 [translesion synthesis] GO:0031464 [Cul4A-RING E3 ubiquitin ligase complex] GO:0031465 [Cul4B-RING E3 ubiquitin ligase complex] GO:0033683 [nucleotide-excision repair, DNA incision] GO:0035518 [histone H2A monoubiquitination] GO:0042769 [DNA damage response, detection of DNA damage] GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0043066 [negative regulation of apoptotic process] GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045070 [positive regulation of viral genome replication] GO:0046726 [positive regulation by virus of viral protein levels in host cell] GO:0051702 [interaction with symbiont] GO:0070062 [extracellular exosome] GO:0070911 [global genome nucleotide-excision repair] GO:0070914 [UV-damage excision repair] GO:0080008 [Cul4-RING E3 ubiquitin ligase complex] GO:1901990 [regulation of mitotic cell cycle phase transition] GO:1902188 [positive regulation of viral release from host cell]