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Gene and Protein Information | |||||||
Species | TM | P Loops | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
Human | 6 | 1 | 500 | 8q23.2 | KCNV1 | potassium voltage-gated channel modifier subfamily V member 1 | 2 |
Mouse | 6 | 1 | 503 | 15 B3.3 | Kcnv1 | potassium channel, subfamily V, member 1 | |
Rat | 6 | 1 | 503 | 7q31 | Kcnv1 | potassium voltage-gated channel modifier subfamily V member 1 |
Database Links | |
Alphafold | Q6PIU1 (Hs), Q8BZN2 (Mm), P97557 (Rn) |
ChEMBL Target | CHEMBL4524039 (Rn) |
Ensembl Gene | ENSG00000164794 (Hs), ENSMUSG00000022342 (Mm), ENSRNOG00000004117 (Rn) |
Entrez Gene | 27012 (Hs), 67498 (Mm), 60326 (Rn) |
Human Protein Atlas | ENSG00000164794 (Hs) |
KEGG Gene | hsa:27012 (Hs), mmu:67498 (Mm), rno:60326 (Rn) |
OMIM | 608164 (Hs) |
Pharos | Q6PIU1 (Hs) |
RefSeq Nucleotide | NM_014379 (Hs), NM_026200 (Mm), NM_021697 (Rn) |
RefSeq Protein | NP_055194 (Hs), NP_080476 (Mm), NP_067729 (Rn) |
UniProtKB | Q6PIU1 (Hs), Q8BZN2 (Mm), P97557 (Rn) |
Wikipedia | KCNV1 (Hs) |
Associated Proteins | ||||||||||||||||||||||
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Ion Selectivity and Conductance Comments |
Kv8.1 is not functional on its own but modulates the properties of coexpressed Kv2.1. |
Activator Comments | ||
Kv8.1 has no function on its own, but it has important modulatory actions on Kv2 channels. |
Tissue Distribution | ||||||||
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Functional Assays | ||||||||||
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Physiological Functions | ||||||||
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Phenotypes, Alleles and Disease Models | Mouse data from MGI | ||||||||||||||||||||||||
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Clinically-Relevant Mutations and Pathophysiology | ||||||||||||||
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Biologically Significant Variant Comments |
A total of 173 SNPs have been identified in human KCNV1. For more information please see the entry on GeneCards. |
General Comments |
Despite sequence identity with other K+channel genes, KCNV1 does not display K+ channel activity when expressed in Xenopus laevis oocytes, instead inhibiting activity of Kv2 and Kv3 channels. |
1. Castellano A, Chiara MD, Mellström B, Molina A, Monje F, Naranjo JR, López-Barneo J. (1997) Identification and functional characterization of a K+ channel alpha-subunit with regulatory properties specific to brain. J Neurosci, 17 (12): 4652-61. [PMID:9169526]
2. Ebihara M, Ohba H, Kikuchi M, Yoshikawa T. (2004) Structural characterization and promoter analysis of human potassium channel Kv8.1 (KCNV1) gene. Gene, 325: 89-96. [PMID:14697513]
3. Hugnot JP, Salinas M, Lesage F, Guillemare E, de Weille J, Heurteaux C, Mattéi MG, Lazdunski M. (1996) Kv8.1, a new neuronal potassium channel subunit with specific inhibitory properties towards Shab and Shaw channels. EMBO J, 15 (13): 3322-31. [PMID:8670833]
4. Mikami M, Yasuda T, Terao A, Nakamura M, Ueno S, Tanabe H, Tanaka T, Onuma T, Goto Y, Kaneko S, Sano A. (1999) Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet, 65 (3): 745-51. [PMID:10441581]
5. Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A. (2011) Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. J Hum Genet, 56 (10): 742-7. [PMID:21850007]
6. Salinas M, de Weille J, Guillemare E, Lazdunski M, Hugnot JP. (1997) Modes of regulation of shab K+ channel activity by the Kv8.1 subunit. J Biol Chem, 272 (13): 8774-80. [PMID:9079713]