KCNH1

Potassium voltage-gated channel subfamily H member 1 is a protein that in humans is encoded by the KCNH1 gene.^[5][6][7]

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)[1] Band 1q32.2 Start 210,676,823 bp[1] End 211,134,165 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 H6 Start 191,873,082 bp[2] End 192,192,467 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 3756 16510 Ensembl ENSG00000143473 ENSMUSG00000058248 UniProt O95259 Q60603 RefSeq (mRNA) NM_002238 NM_172362 NM_001038607 NM_010600 RefSeq (protein) NP_002229 NP_758872 NP_001033696 NP_034730 Location (UCSC) Chr 1: 210.68 – 211.13 Mb Chr 1: 191.87 – 192.19 Mb PubMed search [3] [4]
Wikidata
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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.^[7]

Interactions

KCNH1 has been shown to interact with KCNB1.^[8]

Function

The KCNH1 gene encodes a highly conserved voltage-gated potassium channel with predominant expression in the adult central nervous system.^[9]

Pathologies

Gabbett and colleagues described Temple–Baraitser syndrome (TBS) in 2008, naming the condition after English clinical geneticists Profs Karen Temple and Michael Baraitser.^[10] TBS is categorized by intellectual disabilities, epilepsy, typical facial features, and aplasia of the nails. It was demonstrated that de novo missense mutations in the KCNH1 gene cause deleterious gain of function in a voltage-gated potassium channel, resulting in the multisystem developmental disorder, and that mutational mosaicism present in the mothers of some probands was responsible for their children's TBS phenotype.^[11] This is further evidence of the role that genetic mosaicism plays in the etiology of neurological disorders.

Type 1 Zimmermann–Laband syndrome was later found to be caused by similar mutations in KCNH1.^[12] This has led some researchers to believe that type 1 Zimmermann-Laband and Temple-Baraitser syndromes are different manifestations of the same disorder.^[13][14]

See also

• Voltage-gated potassium channel