KCNH1

KCNH1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5J7E
Identifiers
Aliases	KCNH1, EAG, EAG1, Kv10.1, h-eag, TMBTS, ZLS1, hEAG1, potassium voltage-gated channel subfamily H member 1, hEAG
External IDs	OMIM: 603305; MGI: 1341721; HomoloGene: 68242; GeneCards: KCNH1; OMA:KCNH1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	211,134,165 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	192,192,467 bp
RNA expression pattern
	Top expressed in
	Brodmann area 9; ; prefrontal cortex; ; testicle; ; right frontal lobe; ; cerebellar hemisphere; ; right hemisphere of cerebellum; ; cingulate gyrus; ; anterior cingulate cortex; ; caudate nucleus; ; gonad;
	Top expressed in
	secondary oocyte; ; epithelium of lens; ; olfactory tubercle; ; zygote; ; primary oocyte; ; primary motor cortex; ; nucleus accumbens; ; molar; ; lumbar spinal ganglion; ; superior frontal gyrus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphorelay sensor kinase activity; voltage-gated potassium channel activity; calmodulin binding; cyclic nucleotide binding; ion channel activity; potassium channel activity; voltage-gated ion channel activity; protein binding; lipid binding; phosphatidylinositol bisphosphate binding; delayed rectifier potassium channel activity; identical protein binding; protein kinase binding; transmembrane transporter binding; protein heterodimerization activity; 14-3-3 protein binding;
Cellular component	synapse; integral component of membrane; nucleus; axon; nuclear inner membrane; presynaptic membrane; membrane; early endosome membrane; dendrite; plasma membrane; endosome; voltage-gated potassium channel complex; postsynaptic density; cell junction; cell projection; perikaryon; intracellular membrane-bounded organelle; postsynaptic membrane; integral component of plasma membrane; cell surface; axolemma; potassium channel complex; soma; perinuclear region of cytoplasm; integral component of presynaptic membrane;
Biological process	transmembrane transport; regulation of cell population proliferation; potassium ion transport; signal transduction; phosphorelay signal transduction system; regulation of ion transmembrane transport; ion transport; potassium ion transmembrane transport; myoblast fusion; regulation of membrane potential; phosphatidylinositol-mediated signaling; startle response; ion transmembrane transport; cellular response to calcium ion;
	Sources:Amigo / QuickGO
Orthologs
	3756
	16510
	ENSG00000143473
	ENSMUSG00000058248
	O95259
	Q60603
	NM_002238; NM_172362
	NM_001038607; NM_010600
	NP_002229; NP_758872
	NP_001033696; NP_034730
	Wikidata
View/Edit Human	View/Edit Mouse

Potassium voltage-gated channel subfamily H member 1 (K_V10.1, EAG1) is an ion channel protein that in humans is encoded by the KCNH1 gene. Disease-causing (pathogenic) mutations in the KCNH1 gene cause KCNH1-related disorders, which can include symptoms such as mild-to-severe developmental delay, profound intellectual disability, neonatal hypotonia, myopathic facial appearance, and infantile-onset seizures. Aberrant overexpression of KCNH1 is associated with tumor progression.