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    KCNU1 potassium calcium-activated channel subfamily U member 1 [ Homo sapiens (human) ]

    Gene ID: 157855, updated on 15-Jun-2019

    Summary

    Official Symbol
    KCNU1provided by HGNC
    Official Full Name
    potassium calcium-activated channel subfamily U member 1provided by HGNC
    Primary source
    HGNC:HGNC:18867
    See related
    Ensembl:ENSG00000215262 MIM:615215
    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
    KCa5; Slo3; KCNMC1; KCa5.1; Kcnma3
    Summary
    This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Restricted expression toward testis (RPKM 4.3) See more
    Orthologs

    Genomic context

    See KCNU1 in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (36784324..36936125)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (36641842..36793643)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23 pseudogene 10 Neighboring gene RNA, 5S ribosomal pseudogene 264 Neighboring gene mitochondrial ribosomal protein S7 pseudogene 1 Neighboring gene uncharacterized LOC105379375 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 8 Neighboring gene uncharacterized LOC105379376 Neighboring gene ribosomal protein L26 pseudogene 25

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Fertilization, organism-specific biosystem (from REACTOME)
      Fertilization, organism-specific biosystemMammalian fertilization comprises sperm migration through the female reproductive tract, biochemical and morphological changes to sperm, and sperm-egg interaction in the oviduct. Although the broad c...
    • Insulin secretion, organism-specific biosystem (from KEGG)
      Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
    • Reproduction, organism-specific biosystem (from REACTOME)
      Reproduction, organism-specific biosystemHuman reproduction mixes the genomes of two individuals creating a new organism. The offspring individuals produced by sexual reproduction differ from their parents and from their siblings. Reproduct...
    • Sperm Motility And Taxes, organism-specific biosystem (from REACTOME)
      Sperm Motility And Taxes, organism-specific biosystemA series of receptor signaling pathways potentially govern chemical communication between sperm and egg, chemotactically guiding incoming sperm towards the oocyte. Though several substances are confi...
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
      cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT calcium-activated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    large conductance calcium-activated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    outward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    reproductive process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sperm-egg recognition TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    potassium channel subfamily U member 1
    Names
    Calcium-activated potassium channel subunit alpha-3
    Calcium-activated potassium channel, subfamily M subunit alpha-3
    Slowpoke homolog 3
    potassium channel, subfamily U, member 1

    NCBI Reference Sequences (RefSeq)

    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_001031836.3NP_001027006.2  potassium channel subfamily U member 1

      See identical proteins and their annotated locations for NP_001027006.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
      Source sequence(s)
      AC124076, AC138136, BC028701, DC401954
      Consensus CDS
      CCDS55220.1
      UniProtKB/Swiss-Prot
      A8MYU2
      Related
      ENSP00000382770.3, ENST00000399881.8
      Conserved Domains (3) summary
      pfam00520
      Location:141323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469557
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
      pfam07885
      Location:230317
      Ion_trans_2; Ion channel

    RNA

    1. NR_134267.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302391, BC028701, DC401954
      Related
      ENST00000522372.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    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
      36784324..36936125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544426.2XP_011542728.1  potassium channel subfamily U member 1 isoform X3

      Conserved Domains (3) summary
      pfam00520
      Location:141323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469557
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
      pfam07885
      Location:230317
      Ion_trans_2; Ion channel
    2. XM_017013144.2XP_016868633.1  potassium channel subfamily U member 1 isoform X2

    3. XM_011544424.2XP_011542726.1  potassium channel subfamily U member 1 isoform X1

      Conserved Domains (3) summary
      pfam00520
      Location:141323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469548
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
      pfam07885
      Location:230317
      Ion_trans_2; Ion channel
    4. XM_024447080.1XP_024302848.1  potassium channel subfamily U member 1 isoform X4

      Conserved Domains (2) summary
      pfam00520
      Location:103323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469557
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
    5. XM_011544427.2XP_011542729.1  potassium channel subfamily U member 1 isoform X5

      Conserved Domains (3) summary
      pfam00520
      Location:141323
      Ion_trans; Ion transport protein
      pfam03493
      Location:469557
      BK_channel_a; Calcium-activated BK potassium channel alpha subunit
      pfam07885
      Location:230317
      Ion_trans_2; Ion channel

    RNA

    1. XR_001745486.2 RNA Sequence

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