KCNV1 potassium voltage-gated channel modifier subfamily V member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNV1provided by HGNC
Official Full Name: potassium voltage-gated channel modifier subfamily V member 1provided by HGNC
Primary source: HGNC:HGNC:18861
See related: Ensembl:ENSG00000164794 MIM:608164; AllianceGenome:HGNC:18861
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HNKA; KCNB3; KV2.3; KV8.1
Summary: 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 voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward brain (RPKM 7.0) See more
Orthologs: mouse all
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Genomic context

Location:: 8q23.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (109963636..109975771, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (111092275..111104410, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (110975865..110988000, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36043 (e-PCR)
- UniSTS:42534

SHGC-16598 (e-PCR)
- UniSTS:59508

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ion channel inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	TAS Traceable Author Statement more info	PubMed
enables voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in intercellular bridge	IDA Inferred from Direct Assay more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily V member 1

Names: neuronal potassium channel alpha subunit HNKA; potassium channel Kv8.1; potassium channel, subfamily V, member 1; potassium channel, voltage gated modifier subfamily V, member 1; voltage-gated potassium channel subunit Kv8.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014379.4 → NP_055194.1 potassium voltage-gated channel subfamily V member 1

See identical proteins and their annotated locations for NP_055194.1

Status: REVIEWED

Source sequence(s)

AC027451, AF035317, AF167082, AK308123, DC321870

Consensus CDS

CCDS6314.1

UniProtKB/Swiss-Prot

Q6PIU1, Q9UHJ4

UniProtKB/TrEMBL

B2R8Q7

Related

ENSP00000435954.1, ENST00000524391.6

Conserved Domains (2) summary

cl38908
Location:41 → 160

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:209 → 435

Ion_trans; Ion transport protein