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Gene: KCNH1 (potassium voltage-gated channel subfamily H member 1) Homo sapiens
Symbol: KCNH1
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EAG; EAG channel 1; EAG1; ether-a-go-go potassium channel 1; ether-a-go-go, Drosophila, homolog of; h-eag; hEAG1; Kv10.1; MGC142269; potassium channel, voltage gated eag related subfamily H, member 1; potassium channel, voltage-gated, subfamily H, member 1; potassium voltage-gated channel subfamily H member 1 isoform E65; potassium voltage-gated channel subfamily H member 1 isoform E70; potassium voltage-gated channel, subfamily H (eag-related), member 1; TMBTS; voltage-gated potassium channel subunit Kv10.1; ZLS1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381210,678,314 - 211,134,148 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371210,851,657 - 211,307,457 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361208,923,178 - 209,374,080 (-)NCBINCBI36hg18NCBI36
Build 341207,244,949 - 207,695,852NCBI
Celera1184,078,007 - 184,534,030 (-)NCBI
Cytogenetic Map1q32.2NCBI
HuRef1181,528,354 - 181,984,466 (-)NCBIHuRef
CHM1_11212,124,419 - 212,580,029 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on KCNH1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 68584
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.