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

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, Dec 2024]
Expression: Biased expression in testis (RPKM 12.5) and kidney (RPKM 0.5) See more
Orthologs: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Catsper3 has a single channel-forming domain, a pore-loop with the consensus sequence TxDxW, & a coiled-coil protein-protein interaction domain in the C-terminal tail. CatSpers 1,2,3 & 4 may interact directly or indirectly to form a functional tetramer.
Title: Identification of human and mouse CatSper3 and CatSper4 genes: characterisation of a common interaction domain and evidence for expression in testis.
PMID: 12646162 concludes Alu repeats interfere with splicing of DCOHM and CAVL such that transcripts containing exons of both genes exist.
Title: Cloning of a novel one-repeat calcium channel-like gene.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Markers

RH69300 (e-PCR)
- UniSTS:31244

SGC30875 (e-PCR)
- UniSTS:14954

NoName (e-PCR)
- UniSTS:483234

bac51529T (e-PCR)
- UniSTS:181477

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

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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.