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    KCNA3 potassium voltage-gated channel subfamily A member 3 [ Homo sapiens (human) ]

    Gene ID: 3738, updated on 27-Nov-2024

    Summary

    Official Symbol
    KCNA3provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily A member 3provided by HGNC
    Primary source
    HGNC:HGNC:6221
    See related
    Ensembl:ENSG00000177272 MIM:176263; AllianceGenome:HGNC:6221
    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
    MK3; HGK5; HLK3; PCN3; HPCN3; KV1.3; HUKIII
    Summary
    Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lymph node (RPKM 7.8), appendix (RPKM 6.0) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See KCNA3 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (110653560..110674940, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (110668304..110689683, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111196182..111217562, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1175 Neighboring gene potassium voltage-gated channel subfamily A member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1178 Neighboring gene uncharacterized LOC107985174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1179 Neighboring gene uncharacterized LOC124904296

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-mediated enhancement of potassium voltage-gated channel KV1.3 protein is required for microglia neurotoxicity through the p38 MAPK signaling pathway PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in corpus callosum development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in optic nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    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
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in calyx of Held IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    potassium voltage-gated channel subfamily A member 3
    Names
    RP11-284N8.3
    potassium channel 3
    potassium channel, voltage gated shaker related subfamily A, member 3
    potassium voltage-gated channel, shaker-related subfamily, member 3
    type n potassium channel
    voltage-gated K(+) channel HuKIII
    voltage-gated potassium channel protein Kv1.3
    voltage-gated potassium channel subunit Kv1.3

    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_002232.5NP_002223.3  potassium voltage-gated channel subfamily A member 3

      See identical proteins and their annotated locations for NP_002223.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AL365361, BC035059, CA438434
      Consensus CDS
      CCDS828.2
      UniProtKB/Swiss-Prot
      B2RA23, P22001, Q5VWN2, Q6P2D3
      UniProtKB/TrEMBL
      A0A8V8TMD4
      Related
      ENSP00000358784.2, ENST00000369769.4
      Conserved Domains (2) summary
      cl38908
      Location:104230
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
      pfam00520
      Location:233490
      Ion_trans; Ion transport protein

    RNA

    1. NR_109845.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon structure compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL365361, HY035404
    2. NR_109846.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate exon structure compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL365361, BM995500, DB086905

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      110653560..110674940 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      110668304..110689683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)