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

Gene ID: 378807, updated on 17-Jun-2019

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
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
Expression
Restricted expression toward testis (RPKM 2.4) See more
Orthologs

Genomic context

See CATSPER4 in Genome Data Viewer
Location:
1p36.11
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (26189962..26202542)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26517119..26529033)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes 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 LOC101928303

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

NHGRI GWAS Catalog

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

Markers

Homology

Clone Names

  • MGC149223

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium activated cation channel activity IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to progesterone TAS
Traceable Author Statement
more info
 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
sperm capacitation IEA
Inferred from Electronic Annotation
more info
 
sperm-egg recognition TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
CatSper complex ISS
Inferred from Sequence or Structural Similarity
more info
 
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
sperm principal piece IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cation channel sperm-associated protein 4
Names
ion channel CatSper4

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.

mRNA and Protein(s)

  1. NM_198137.1NP_937770.1  cation channel sperm-associated protein 4

    See identical proteins and their annotated locations for NP_937770.1

    Status: VALIDATED

    Source sequence(s)
    BN000273
    Consensus CDS
    CCDS30645.1
    UniProtKB/Swiss-Prot
    Q7RTX7
    Related
    ENSP00000390423.2, ENST00000456354.6
    Conserved Domains (1) summary
    pfam00520
    Location:91313
    Ion_trans; Ion transport protein

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    26189962..26202542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541433.2XP_011539735.1  cation channel sperm-associated protein 4 isoform X2

    Conserved Domains (1) summary
    pfam00520
    Location:115269
    Ion_trans; Ion transport protein
  2. XM_011541432.3XP_011539734.1  cation channel sperm-associated protein 4 isoform X1

    Conserved Domains (1) summary
    pfam00520
    Location:115313
    Ion_trans; Ion transport protein
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