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

Gene ID: 347732, updated on 5-Aug-2022

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 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, Apr 2022]
Expression
Biased expression in testis (RPKM 12.5) and kidney (RPKM 0.5) See more
Orthologs
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Genomic context

See CATSPER3 in Genome Data Viewer
Location:
5q31.1
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134967907..135011696)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135494874..135538709)
105.20220307 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 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
  • 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

Homology

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
PubMed 
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
PubMed 
involved_in regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sperm capacitation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of CatSper complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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
    Related
    ENSP00000282611.6, ENST00000282611.8
    Conserved Domains (1) summary
    pfam00520
    Location:72269
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)