LongevityMap Gene
Gene details
- HGNC symbol
- HIP1
- Aliases
- SHON; HIP-I; ILWEQ; SHONbeta; SHONgamma
- Common name
- huntingtin interacting protein 1
- Description
- The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
- Cytogenetic Location
- 7q11.23
- UCSC Genome Browser
- View 7q11.23 on the UCSC genome browser
- OMIM
- 601767
- Ensembl
- ENSG00000127946
- UniProt/Swiss-Prot
- B4DK46_HUMAN
- Entrez Gene
- 3092
- UniGene
- 329266
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- tag-138
- Caenorhabditis elegans
- Y18D10A.22
- Caenorhabditis elegans
- hipr-1
- Danio rerio
- hip1
- Drosophila melanogaster
- Hip1
- Mus musculus
- Hip1
- Rattus norvegicus
- Hip1
- Saccharomyces cerevisiae
- SLA2
- Schizosaccharomyces pombe
- end4
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- European
- Study Design
- Meta-analysis of genome-wide association studies of survival and survival free of major disease or death. In total, there were 25,007 participants over 55 years of age and followed-up for over 10 years for mortality and over 8 years for event-free survival.
- Conclusions
- No SNP was significantly associated with mortality after correcting for multiple testing, but 14 independent SNPs were associated with time to death at a suggestive threshold
- Indentifier
- rs17149227
- Reference