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    CATSPER1 cation channel sperm associated 1 [ Homo sapiens (human) ]

    Gene ID: 117144, updated on 28-Oct-2024

    Summary

    Official Symbol
    CATSPER1provided by HGNC
    Official Full Name
    cation channel sperm associated 1provided by HGNC
    Primary source
    HGNC:HGNC:17116
    See related
    Ensembl:ENSG00000175294 MIM:606389; AllianceGenome:HGNC:17116
    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
    SPGF7; CATSPER
    Summary
    Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 8.9) See more
    Orthologs
    NEW
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    Genomic context

    See CATSPER1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66016752..66026479, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66010876..66020602, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65784223..65793950, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3569 Neighboring gene eukaryotic translation initiation factor 1A domain containing Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65770703-65771509 Neighboring gene Sharpr-MPRA regulatory region 5067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65775781-65776575 Neighboring gene barrier to autointegration nuclear assembly factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65780961-65781536 Neighboring gene cystatin E/M Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65790121-65790622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5026 Neighboring gene galactose-3-O-sulfotransferase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65818833-65819384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5028 Neighboring gene small nucleolar RNA, C/D box 13F Neighboring gene splicing factor 3b subunit 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Associated conditions

    Description Tests
    Spermatogenic failure 7
    MedGen: C2751811 OMIM: 612997 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC33335, MGC33368

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-activated cation channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cilium beat frequency involved in ciliary motility IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of CatSper complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of CatSper complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sperm principal piece ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    cation channel sperm-associated protein 1
    Names
    hCatSper
    sperm ion channel
    sperm-associated cation channel 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.

    Genomic

    1. NG_016285.1 RefSeqGene

      Range
      5039..14766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_053054.4NP_444282.3  cation channel sperm-associated protein 1

      See identical proteins and their annotated locations for NP_444282.3

      Status: REVIEWED

      Source sequence(s)
      AF407333, AP006287, BC032950, BC036522
      Consensus CDS
      CCDS8127.1
      UniProtKB/Swiss-Prot
      Q8NEC5, Q96P76
      Related
      ENSP00000309052.5, ENST00000312106.6
      Conserved Domains (2) summary
      pfam00520
      Location:483677
      Ion_trans; Ion transport protein
      pfam07695
      Location:486629
      7TMR-DISM_7TM; 7TM diverse intracellular signalling

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66016752..66026479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426337.1XP_047282293.1  cation channel sperm-associated protein 1 isoform X1

    2. XM_047426338.1XP_047282294.1  cation channel sperm-associated protein 1 isoform X2

    RNA

    1. XR_002957121.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66010876..66020602 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367611.1XP_054223586.1  cation channel sperm-associated protein 1 isoform X1

    2. XM_054367612.1XP_054223587.1  cation channel sperm-associated protein 1 isoform X2

    RNA

    1. XR_008488338.1 RNA Sequence