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

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