LongevityMap Gene
Gene details
- HGNC symbol
- DDB1
- Aliases
- XPE; DDBA; XAP1; XPCE; XPE-BF; UV-DDB1
- Common name
- damage specific DNA binding protein 1
- Description
- 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]
- Cytogenetic Location
- 11q12.2
- UCSC Genome Browser
- View 11q12.2 on the UCSC genome browser
- OMIM
- 600045
- Ensembl
- ENSG00000167986
- UniProt/Swiss-Prot
- DDB1_HUMAN
- Entrez Gene
- 1642
- UniGene
- 290758
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- ddb-1
- Danio rerio
- ddb1
- Drosophila melanogaster
- pic
- Mus musculus
- Ddb1
- Rattus norvegicus
- Ddb1
- Saccharomyces cerevisiae
- RSE1
- Schizosaccharomyces pombe
- ddb1
In other databases
- CellAge
- This gene is present as DDB1
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Indentifier
- rs17549396
- Reference