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Kv8.1

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Target not currently curated in GtoImmuPdb

Target id: 565

Nomenclature: Kv8.1

Family: Voltage-gated potassium channels (Kv)

Gene and Protein Information Click here for help
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
Previous and Unofficial Names Click here for help
HNKA | kv2.3 | kv2.3r | neuronal potassium channel alpha subunit | voltage-gated potassium channel subunit Kv2.3r | vibe | potassium channel, voltage gated modifier subfamily V, member 1 | potassium channel, voltage-gated modifier subfamily V, member 1 | potassium channel
Database Links Click here for help
Alphafold
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Associated Proteins Click here for help
Heteromeric Pore-forming Subunits
Name References
Kv2.1 1,3
Kv2.2 1,3
Auxiliary Subunits
Name References
Not determined
Other Associated Proteins
Name References
Not determined
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 Click here for help
Infant brain, adult brain (layers II, IV and VI of the cerebral cortex, hippocampus, CA1 - CA4 pyramidal cell layer, granule cells of the dentate gyrus, granule cell layer, Purkinje cell layer of the cerebellum), kidney
Species:  Rat
Technique:  RT-PCR, Northern blot, In situ hybrisation
References:  1,3
Functional Assays Click here for help
Molecular clone, electrophysiology, voltage clamp
Species:  Rat
Tissue:  Xenopus laevis oocytes
Response measured:  No expression of K+ currents, but modulates properties of coexpressed Kv2.1
References:  1,3,6
Molecular clone, electrophysiology, voltage clamp
Species:  Rat
Tissue:  COS and CHO mammalian cell lines
Response measured:  No expression of K+ currents, but modulates properties of coexpressd Kv2.1
References:  1,3,6
Physiological Functions Click here for help
Regulation of membrane potential and action potential frequency by modulation of delayed rectifier potassium current. It modulates the activity of Kv2.1 and Kv2.2 channels by changing kinetics and levels of expression and by shifting the half-inactivation potential to more polarized values.
Species:  Rat
Tissue:  Xenopus laevis oocytes
References:  3
Phenotypes, Alleles and Disease Models Click here for help Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Kcnv1vibe Kcnv1vibe/Kcnv1vibe
C57BL/6Apb-Kcnv1/Apb
MGI:1914748  MP:0001393 ataxia
Kcnv1vibe Kcnv1vibe/Kcnv1vibe
C57BL/6Apb-Kcnv1/Apb
MGI:1914748  MP:0000743 muscle spasm
Kcnv1vibe Kcnv1vibe/Kcnv1vibe
C57BL/6Apb-Kcnv1/Apb
MGI:1914748  MP:0000745 tremors
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Benign Adult Familial Myoclonic Epilepsy
OMIM: 601068
Role: 
Comments: 
References:  2,4-5
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.

References

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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]

Contributors

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