Mus musculus Gene: Ddb1
Summary
InnateDB Gene IDBG-144530.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ddb1
Gene Name damage specific DNA binding protein 1
Synonyms 127kDa; AA408517; p127-Ddb1
Species Mus musculus
Ensembl Gene ENSMUSG00000024740
Encoded Proteins
damage specific DNA binding protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000167986:
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 19:10605625-10629813
Strand Forward strand
Band A
Transcripts
ENSMUST00000025649 ENSMUSP00000025649
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 42 experimentally validated interaction(s) in this database.
They are also associated with 207 interaction(s) predicted by orthology.
Experimentally validated
Total 42 [view]
Protein-Protein 42 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 207 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0005515 protein binding
Biological Process
GO:0006281 DNA repair
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: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
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Dual incision reaction in GG-NER pathway
Global Genomic NER (GG-NER) pathway
Formation of incision complex in GG-NER pathway
Nucleotide Excision Repair pathway
DNA Repair pathway
KEGG
Ubiquitin mediated proteolysis pathway
Nucleotide excision repair pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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
Nucleotide Excision Repair pathway
Global Genomic NER (GG-NER) pathway
Dual incision reaction in GG-NER pathway
DNA Repair pathway
Formation of incision complex in GG-NER pathway
KEGG
Ubiquitin mediated proteolysis pathway
Nucleotide excision repair pathway
INOH
PID NCI
Cross-References
SwissProt Q3U1J4
TrEMBL
UniProt Splice Variant
Entrez Gene 13194
UniGene Mm.289915 Mm.473605
RefSeq NM_015735
OMIM
CCDS CCDS37915
HPRD
IMGT
MGI ID MGI:1202384
MGI Symbol Ddb1
EMBL AB026432 AF159853 AK146522 AK152228 AK154303 AK155020 AK155920 AK157491 BC002210 BC009661
GenPept AAD42230 AAH02210 AAH09661 BAA84699 BAE27231 BAE31055 BAE32502 BAE32993 BAE33503 BAE34102
RNA Seq Atlas 13194