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
Drosophila melanogaster
pic
Mus musculus
Ddb1
Rattus norvegicus
Ddb1
Schizosaccharomyces pombe
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