DDB1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DDB1 |
| Official Name | damage specific DNA binding protein 1 [Source:HGNC Symbol;Acc:HGNC:2717] |
| Ensembl ID | ENSG00000167986 |
| Bio databases IDs | |
| Aliases | damage specific DNA binding protein 1 |
| Synonyms | damage-specific DNA binding protein 1, DDBA, DNA-damage-binding protein 1, p127-Ddb1, UV-DDB1, WHIKERS, Xap1, XPCE, XPE, XPE-BF |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DDB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- damaged DNA binding
- protein binding activity, bridging
- Mono-functional DNA-alkylating methyl methanesulfonate N-term
- protein domain specific binding
- protein binding
- DNA binding
- CPSF A subunit region
Pathways
Biological processes and signaling networks where the DDB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- actinic keratosis
- epithelial cancer
- White-Kernohan syndrome
- lichen planus
- sarcomatoid nasopharyngeal carcinoma
- sarcomatoid cancer
- nasopharyngeal cancer
- complete testicular feminization syndrome
- high-fat diet-induced obesity
- nasopharyngeal carcinoma
role in cell
- expression in
- number
- proliferation
- apoptosis
- phosphorylation in
- G2/M phase
- binding in
- growth
- binding
- formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- interchromatin granule cluster fractions
- nuclear fraction
- chromatin fraction
- Cytoplasm
- cytosol
- nucleoplasm
- nucleoli
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DDB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- nucleotide-excision repair
- spindle assembly involved in female meiosis
- negative regulation of developmental process
- regulation of circadian rhythm
- positive regulation of gluconeogenesis
- apoptotic process
- cellular response to UV
- Wnt receptor signaling pathway
- positive regulation of viral genome replication
- interaction with symbiont
- proteasomal protein catabolic process
- UV-damage excision repair
- germ cell programmed cell death
- positive regulation of protein catabolic process
- response to DNA damage stimulus
- positive regulation of viral protein levels in host cell
- ubiquitin-dependent protein catabolic process
- proteasomal ubiquitin-dependent protein catabolic process
- rhythmic process
- release of virus from host
- negative regulation of apoptotic process
- negative regulation of reproductive process
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- site of double-strand break
- nucleolus
- CUL4 RING ubiquitin ligase complex
- nucleoplasm
- nucleus
- chromosome, telomeric region
- extracellular space
- extracellular vesicular exosome
- cytoplasm
- Cul4A-RING ubiquitin ligase complex
- Cul4B-RING ubiquitin ligase complex
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- damaged DNA binding
- protein binding, bridging
- WD40-repeat domain binding