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
- kcnh1b
- Danio rerio
- kcnh1a
- 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