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CATSPER4 cation channel sperm associated 4 [ Homo sapiens (human) ]

Gene ID: 378807, updated on 5-Aug-2022

Summary

Official Symbol
CATSPER4provided by HGNC
Official Full Name
cation channel sperm associated 4provided by HGNC
Primary source
HGNC:HGNC:23220
See related
Ensembl:ENSG00000188782 MIM:609121; AllianceGenome:HGNC:23220
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
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 and sperm principal piece. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 2.4) See more
Orthologs
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Genomic context

See CATSPER4 in Genome Data Viewer
Location:
1p36.11
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26190602..26202964)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26028026..26040391)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26517093..26529455)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ZNF593 opposite strand Neighboring gene zinc finger protein 593 Neighboring gene connector enhancer of kinase suppressor of Ras 1 Neighboring gene ADP ribosylation factor like GTPase 16 pseudogene Neighboring gene uncharacterized LOC124903882

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC149223

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
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 plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in sperm principal piece IBA
Inferred from Biological aspect of Ancestor
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 4
Names
ion channel CatSper4

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_198137.2NP_937770.1  cation channel sperm-associated protein 4

    See identical proteins and their annotated locations for NP_937770.1

    Status: VALIDATED

    Source sequence(s)
    AL355877
    Consensus CDS
    CCDS30645.1
    UniProtKB/Swiss-Prot
    Q5VY71, Q7RTX7
    Related
    ENSP00000390423.3, ENST00000456354.7
    Conserved Domains (1) summary
    pfam00520
    Location:91313
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    26190602..26202964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541432.4XP_011539734.1  cation channel sperm-associated protein 4 isoform X1

    Related
    ENSP00000341006.2, ENST00000338855.6
    Conserved Domains (1) summary
    pfam00520
    Location:115313
    Ion_trans; Ion transport protein
  2. XM_011541433.3XP_011539735.1  cation channel sperm-associated protein 4 isoform X2

    Conserved Domains (1) summary
    pfam00520
    Location:115269
    Ion_trans; Ion transport protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    26028026..26040391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)