Homo sapiens Gene: DDB1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-49964.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DDB1 | ||||||||||||||||||||||
Gene Name | damage-specific DNA binding protein 1, 127kDa | ||||||||||||||||||||||
Synonyms | DDBA; UV-DDB1; XAP1; XPCE; XPE; XPE-BF | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000167986 | ||||||||||||||||||||||
Encoded Proteins |
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
damage-specific DNA binding protein 1, 127kDa
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 11:61299451-61342596 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q12.2 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 290 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Dual incision reaction in GG-NER pathway
Formation of incision complex in GG-NER pathway
Global Genomic NER (GG-NER) pathway
Nucleotide Excision Repair pathway
DNA Repair pathway
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KEGG |
Ubiquitin mediated proteolysis pathway
Nucleotide excision repair pathway
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INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Hs.290758 Hs.717913 | ||||||||||||||||||||||
RefSeq | NM_001923 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS31576 | ||||||||||||||||||||||
HPRD | 10952 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||