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

    Gene ID: 27012, updated on 27-Dec-2024

    Summary

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    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

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    See KCNV1 in Genome Data Viewer
    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_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902096 Neighboring gene NANOG hESC enhancer GRCh37_chr8:110908785-110909286 Neighboring gene ribosomal protein L18 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110966047-110966548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110986489-110987086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:111094897-111095398 Neighboring gene ribosomal protein SA pseudogene 48 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:111269769-111270270 Neighboring gene ataxin 3 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Structural characterization and promoter analysis of human potassium channel Kv8.1 (KCNV1) gene. Ebihara M, et al. Gene, 2004 Jan 21. PMID 14697513
    2. Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy. Sano A, et al. Epilepsia, 2002. PMID 12383276
    3. Modes of regulation of shab K+ channel activity by the Kv8.1 subunit. Salinas M, et al. J Biol Chem, 1997 Mar 28. PMID 9079713
    4. Kv8.1, a new neuronal potassium channel subunit with specific inhibitory properties towards Shab and Shaw channels. Hugnot JP, et al. EMBO J, 1996 Jul 1. PMID 8670833, Free PMC Article
    5. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. Gutman GA, et al. Pharmacol Rev, 2005 Dec. PMID 16382104

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    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 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)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      111092275..111104410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PIU1.2 GenPept UniProtKB/Swiss-Prot:Q6PIU1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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