Format

Send to:

Choose Destination

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

Gene ID: 27012, updated on 8-Jul-2021

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See KCNV1 in Genome Data Viewer
Location:
8q23.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (109963636..109975771, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (110975865..110988000, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene SMG5 nonsense mediated mRNA decay factor pseudogene Neighboring gene ribosomal protein L18 pseudogene 6 Neighboring gene ribosomal protein SA pseudogene 48 Neighboring gene ataxin 3 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 TAS
Traceable Author Statement
more info
PubMed 
enables voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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
PubMed 

General protein information

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)

NEW Try the new Transcript table

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)

  1. NM_014379.4NP_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
    Related
    ENSP00000435954.1, ENST00000524391.6
    Conserved Domains (2) summary
    cl38908
    Location:41160
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    pfam00520
    Location:209435
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    109963636..109975771 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center