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    CATSPER4 cation channel sperm associated 4 [ Homo sapiens (human) ]

    Gene ID: 378807, updated on 2-Oct-2018

    Summary

    Official Symbol
    CATSPER4provided by HGNC
    Official Full Name
    cation channel sperm associated 4provided by HGNC
    Primary source
    HGNC:HGNC:23220
    See related
    Ensembl:ENSG00000188782 MIM:609121; Vega:OTTHUMG00000003383
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Restricted expression toward testis (RPKM 2.4) See more
    Orthologs

    Genomic context

    See CATSPER4 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (26189962..26202542)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26517119..26529033)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 593 Neighboring gene connector enhancer of kinase suppressor of Ras 1 Neighboring gene ADP ribosylation factor like GTPase 16 pseudogene Neighboring gene uncharacterized LOC101928303

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    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...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC149223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium activated cation channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    sperm capacitation IEA
    Inferred from Electronic Annotation
    more info
     
    sperm-egg recognition TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    CatSper complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sperm principal piece IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cation channel sperm-associated protein 4
    Names
    ion channel CatSper4

    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_198137.1NP_937770.1  cation channel sperm-associated protein 4

      See identical proteins and their annotated locations for NP_937770.1

      Status: VALIDATED

      Source sequence(s)
      BN000273
      Consensus CDS
      CCDS30645.1
      UniProtKB/Swiss-Prot
      Q7RTX7
      Related
      ENSP00000390423.2, OTTHUMP00000008765, ENST00000456354.6, OTTHUMT00000019849
      Conserved Domains (1) summary
      pfam00520
      Location:91313
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      26189962..26202542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541433.2XP_011539735.1  cation channel sperm-associated protein 4 isoform X2

      Conserved Domains (1) summary
      pfam00520
      Location:115269
      Ion_trans; Ion transport protein
    2. XM_011541432.3XP_011539734.1  cation channel sperm-associated protein 4 isoform X1

      Conserved Domains (1) summary
      pfam00520
      Location:115313
      Ion_trans; Ion transport protein
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