LongevityMap Gene
Gene details
- HGNC symbol
- ADAMTSL1
- Aliases
- C9orf94; PUNCTIN; ADAMTSR1; ADAMTSL-1
- Common name
- ADAMTS like 1
- Description
- This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 9p22.2-p22.1
- UCSC Genome Browser
- View 9p22.2-p22.1 on the UCSC genome browser
- OMIM
- 609198
- Ensembl
- ENSG00000178031
- UniProt/Swiss-Prot
- ATL1_HUMAN
- Entrez Gene
- 92949
- UniGene
- 741483
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- madd-4
- Drosophila melanogaster
- CG31619
- Mus musculus
- Adamtsl1
- Rattus norvegicus
- Adamtsl1
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs3780223
- Reference