InnateDB Protein
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IDBP-42775.7
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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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DDB2
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Protein Name
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damage-specific DNA binding protein 2, 48kDa
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Synonyms
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DDBB; UV-DDB2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000367864
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InnateDB Gene
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IDBG-42769 (DDB2)
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Protein Structure
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Function |
Required for DNA repair. Binds to DDB1 to form the UV- damaged DNA-binding protein complex (the UV-DDB complex). The UV- DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as the substrate recognition module for the DCX (DDB1- CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB1-CUL4- ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. The DDB1-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. Isoform D1 and isoform D2 inhibit UV-damaged DNA repair. {ECO:0000269PubMed:10882109, ECO:0000269PubMed:11278856, ECO:0000269PubMed:11705987, ECO:0000269PubMed:12732143, ECO:0000269PubMed:12944386, ECO:0000269PubMed:14751237, ECO:0000269PubMed:15882621, ECO:0000269PubMed:16260596, ECO:0000269PubMed:16473935, ECO:0000269PubMed:16678110, ECO:0000269PubMed:18593899, ECO:0000269PubMed:9892649}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:10777490, ECO:0000269PubMed:10777491, ECO:0000269PubMed:11705987, ECO:0000269PubMed:12944386, ECO:0000269PubMed:14751237, ECO:0000269PubMed:16473935, ECO:0000269PubMed:16713579, ECO:0000269PubMed:17635991, ECO:0000269PubMed:18593899}. Note=Accumulates at sites of DNA damage following UV irradiation.
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Disease Associations |
Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features. {ECO:0000269PubMed:8798680}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitously expressed; with highest levels in corneal endothelium and lowest levels in brain. Isoform D1 is highly expressed in brain and heart. Isoform D2, isoform D3 and isoform D4 are weakly expressed. {ECO:0000269PubMed:14751237}.
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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 74 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
74
[view]
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Protein-Protein |
69
[view]
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Protein-DNA |
4
[view]
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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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 |
IPR001680
WD40 repeat
IPR017986
WD40-repeat-containing domain
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PFAM |
PF00400
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PRINTS |
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PIRSF |
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SMART |
SM00320
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TIGRFAMs |
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Modification |
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SwissProt |
Q92466
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PhosphoSite |
PhosphoSite-Q92466
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1643
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UniGene |
Hs.700338
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RefSeq |
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HUGO |
HGNC:2718
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OMIM |
600811
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CCDS |
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HPRD |
02886
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IMGT |
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EMBL |
AB107037
AB107038
AB107039
AB107040
AK313262
AY220533
BC000093
BT007139
CH471064
U18300
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GenPept |
AAB07897
AAH00093
AAO25655
AAP35803
BAD12557
BAD12558
BAD12559
BAD12560
BAG36072
EAW67952
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