Homo sapiens Gene: DDB1
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:61299451-61342596
Strand Reverse strand
Band q12.2
Transcripts
ENST00000301764 ENSP00000301764
ENST00000451943 ENSP00000399813
ENST00000414411
ENST00000545894
ENST00000540166 ENSP00000440269
ENST00000538470 ENSP00000441522
ENST00000539332 ENSP00000439787
ENST00000543658 ENSP00000445844
ENST00000535147 ENSP00000444650
ENST00000537877 ENSP00000442732
ENST00000535967 ENSP00000437713
ENST00000539739 ENSP00000445563
ENST00000540784
ENST00000538280
ENST00000545930
ENST00000535174 ENSP00000446044
ENST00000539712
ENST00000541513 ENSP00000442660
ENST00000537120
ENST00000543162
ENST00000539426 ENSP00000445554
ENST00000535283 ENSP00000441825
ENST00000538129
ENST00000542337 ENSP00000444105
ENST00000543627 ENSP00000440660
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.
Experimentally validated
Total 290 [view]
Protein-Protein 288 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0003824 catalytic activity
GO:0005515 protein binding
Biological Process
GO:0000718 nucleotide-excision repair, DNA damage removal
GO:0006281 DNA repair
GO:0006289 nucleotide-excision repair
GO:0016032 viral process
GO:0016055 Wnt signaling pathway
GO:0035518 histone H2A monoubiquitination
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:0070914 UV-damage excision repair
GO:1901990 regulation of mitotic cell cycle phase transition
Cellular Component
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0031464 Cul4A-RING E3 ubiquitin ligase complex
GO:0031465 Cul4B-RING E3 ubiquitin ligase complex
GO:0070062 extracellular vesicular exosome
GO:0080008 Cul4-RING E3 ubiquitin ligase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Formation of incision complex in GG-NER pathway
Dual incision reaction in GG-NER pathway
Global Genomic NER (GG-NER) pathway
Nucleotide Excision Repair pathway
DNA Repair pathway
KEGG
Nucleotide excision repair pathway
Ubiquitin mediated proteolysis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL F5H2L3
UniProt Splice Variant
Entrez Gene 1642
UniGene Hs.290758 Hs.717913
RefSeq NM_001923
HUGO HGNC:2717
OMIM 600045
CCDS CCDS31576
HPRD 10952
IMGT
EMBL AP003037 AP003108
GenPept
RNA Seq Atlas 1642