LongevityMap Gene

Gene details

HGNC symbol
KCNH1 
Aliases
EAG; EAG1; ZLS1; TMBTS; h-eag; hEAG1; Kv10.1 
Common name
potassium voltage-gated channel subfamily H member 1 
Description
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Cytogenetic Location
1q32.2
UCSC Genome Browser
View 1q32.2 on the UCSC genome browser
OMIM
603305
Ensembl
ENSG00000143473
UniProt/Swiss-Prot
KCNH1_HUMAN
Entrez Gene
3756
UniGene
553187
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
egl-2
Danio rerio
LOC568733
Drosophila melanogaster
eag
Mus musculus
Kcnh1
Rattus norvegicus
Kcnh1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Italian
Study Design
Genome-wide association study on 410 long-living individuals (age range, 90–109 years) and 553 young control individuals (age range, 18–48 years) using 318,237 SNPs. An independent population with 116 long-lived individuals and 160 controls was used for replication purposes.
Conclusions
A total of 67 SNPs were identified with an indication of potentially being associated with longevity (p < 1 × 10−4), though 66 were not further validated
Indentifier
rs1538287
Reference