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

Gene ID: 117144, updated on 17-Jun-2019

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
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

Genomic context

See CATSPER1 in Genome Data Viewer
Location:
11q13.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66016752..66026518, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65784223..65793988, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1A domain containing Neighboring gene barrier to autointegration factor 1 Neighboring gene cystatin E/M Neighboring gene galactose-3-O-sulfotransferase 3 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
  • 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

Associated conditions

Description Tests
CATSPER-Related Male Infertility Compare labs

NHGRI GWAS Catalog

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

Homology

Clone Names

  • MGC33335, MGC33368

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium activated cation channel activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
regulation of cilium beat frequency involved in ciliary motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to progesterone TAS
Traceable Author Statement
more info
 
sperm-egg recognition TAS
Traceable Author Statement
more info
 
spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
CatSper complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
CatSper complex ISS
Inferred from Sequence or Structural Similarity
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
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)

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
    5001..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
    Related
    ENSP00000309052.5, ENST00000312106.5
    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: 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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    66016752..66026518 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002957122.1 RNA Sequence

  2. XR_949787.2 RNA Sequence

  3. XR_002957121.1 RNA Sequence

  4. XR_949785.2 RNA Sequence

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