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    CATSPER3 cation channel sperm associated 3 [ Homo sapiens (human) ]

    Gene ID: 347732, updated on 2-Nov-2024

    Summary

    Official Symbol
    CATSPER3provided by HGNC
    Official Full Name
    cation channel sperm associated 3provided by HGNC
    Primary source
    HGNC:HGNC:20819
    See related
    Ensembl:ENSG00000152705 MIM:609120; AllianceGenome:HGNC:20819
    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
    Also known as
    CACRC
    Summary
    Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in flagellated sperm motility; sodium ion transport; and sperm capacitation. Predicted to act upstream of or within establishment of localization in cell. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in acrosomal vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 12.5) and kidney (RPKM 0.5) See more
    Orthologs
    NEW
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    Genomic context

    See CATSPER3 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134967907..135011696)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135494874..135538709)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134303597..134347386)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MT-ND4L pseudogene 30 Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 Neighboring gene MT-ND4 pseudogene 12 Neighboring gene MT-ND3 pseudogene 25 Neighboring gene NANOG hESC enhancer GRCh37_chr5:134312555-134313067 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:134325851-134326415 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:134360625-134361824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134362037-134362626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134362736-134363421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134364793-134365477 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:134367424-134367631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134368802-134369434 Neighboring gene PITX1 antisense RNA 1 Neighboring gene paired like homeodomain 1 Neighboring gene esophagus epithelial intergenic associated transcript

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
    EBI GWAS Catalog
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of cation channel sperm associated 3 protein (CATSPER3) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    General gene information

    Markers

    Potential readthrough

    Included gene: PCBD2

    Clone Names

    • MGC126741

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sperm capacitation 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
     
    is_active_in acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    cation channel sperm-associated protein 3
    Names
    ca(v)-like protein
    calcium channel repeat containing 1
    one-repeat calcium channel-like protein
    putative ion channel CatSper3

    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_178019.3NP_821138.1  cation channel sperm-associated protein 3

      See identical proteins and their annotated locations for NP_821138.1

      Status: VALIDATED

      Source sequence(s)
      AW008956, BC101692, BI827754
      Consensus CDS
      CCDS4181.1
      UniProtKB/Swiss-Prot
      Q86XQ3, Q86XS6
      UniProtKB/TrEMBL
      A8K8R2
      Related
      ENSP00000282611.6, ENST00000282611.8
      Conserved Domains (1) summary
      pfam00520
      Location:72269
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      134967907..135011696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      135494874..135538709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)