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KCNH1

KCNH1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKCNH1, EAG, EAG1, Kv10.1, h-eag, TMBTS, ZLS1, hEAG1, potassium voltage-gated channel subfamily H member 1
External IDsOMIM: 603305 MGI: 1341721 HomoloGene: 68242 GeneCards: KCNH1
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for KCNH1
Genomic location for KCNH1
Band1q32.2Start210,676,823 bp[1]
End211,134,165 bp[1]
RNA expression pattern
PBB GE KCNH1 207635 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 1: 192.19 – 192.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

Pathologies

A recent study has shown that de novo missense mutations in the KCNH1 gene results in deleterious gain of function, resulting in a multisystem developmental disorder known as Temple-Baraitser syndrome (TBS). TBS is categorized by intellectual disabilities, epilepsy, and aplasia of the nails. Simons et al. suggested that mutational mosaicism present in the mothers of some probands was responsible for their children's TBS phenotype. This is further evidence of the role that genetic mosaicism plays in the etiology of neurological disorders.[9]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143473 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058248 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Occhiodoro T, Bernheim L, Liu JH, Bijlenga P, Sinnreich M, Bader CR, Fischer-Lougheed J (Sep 1998). "Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion". FEBS Lett. 434 (1–2): 177–82. doi:10.1016/S0014-5793(98)00973-9. PMID 9738473.
  6. ^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104.
  7. ^ a b "Entrez Gene: KCNH1 potassium voltage-gated channel, subfamily H (eag-related), member 1".
  8. ^ Ottschytsch, N; Raes A; Van Hoorick D; Snyders D J (Jun 2002). "Obligatory heterotetramerization of three previously uncharacterized Kv channel α-subunits identified in the human genome". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 7986–91. Bibcode:2002PNAS...99.7986O. doi:10.1073/pnas.122617999. ISSN 0027-8424. PMC 123007. PMID 12060745.
  9. ^ Simons, Cas; Rash, Lachlan D.; Crawford, Joanna; Ma, Linlin; Cristofori-Armstrong, Ben; Miller, David; Ru, Kelin; Baillie, Gregory J.; Alanay, Yasemin (January 2015). "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy". Nature Genetics. 47 (1): 73–77. doi:10.1038/ng.3153. ISSN 1061-4036. PMID 25420144.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.