Catsper1 cation channel, sperm associated 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Catsper1provided by MGI
Official Full Name: cation channel, sperm associated 1provided by MGI
Primary source: MGI:MGI:2179947
See related: Ensembl:ENSMUSG00000038498 AllianceGenome:MGI:2179947
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: KSper; Catsper
Summary: Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including flagellated sperm motility; fusion of sperm to egg plasma membrane involved in single fertilization; and regulation of cilium beat frequency involved in ciliary motility. Located in plasma membrane and sperm principal piece. Part of CatSper complex. Is expressed in germ cell of testis; spermatid; spermatocyte; spermatozoon; and testis. Human ortholog(s) of this gene implicated in spermatogenic failure 7. Orthologous to human CATSPER1 (cation channel sperm associated 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis adult (RPKM 93.8) See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 4.3 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (5385643..5394309)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (5335615..5344281)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.
Title: Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.
C2CD6 regulates targeting and organization of the CatSper calcium channel complex in sperm flagella.
Title: C2CD6 regulates targeting and organization of the CatSper calcium channel complex in sperm flagella.
Na(+)/H(+) Exchangers Involve in Regulating the pH-Sensitive Ion Channels in Mouse Sperm.
Title: Na(+)/H(+) Exchangers Involve in Regulating the pH-Sensitive Ion Channels in Mouse Sperm.
Cdc42 localized in the CatSper signaling complex regulates cAMP-dependent pathways in mouse sperm.
Title: Cdc42 localized in the CatSper signaling complex regulates cAMP-dependent pathways in mouse sperm.
CatSper: The complex main gate of calcium entry in mammalian spermatozoa.
Title: CatSper: The complex main gate of calcium entry in mammalian spermatozoa.
these results indicate that a subpopulation of sperm increases [Ca(2+) ]i very rapidly during capacitation mainly due to a CatSper-mediated influx of extracellular Ca(2+) .
Title: Only a subpopulation of mouse sperm displays a rapid increase in intracellular calcium during capacitation.
These data indicate that Catsper1au is divergently expressed from the Catsper1 promoter and could regulate gene expression during spermatogenesis
Title: Catsper1 promoter is bidirectional and regulates the expression of a novel lncRNA.
The results showed that hypothyroidism could adversely affect sperm morphology, sperm chromatin condensation, and CatSper gene expression in mice and these abnormalities may be related to the excessive production of reactive oxygen species (ROS) in a hypothyroid state.
Title: Assessment of sperm morphology, chromatin integrity, and catSper genes expression in hypothyroid mice.
Data suggest that Catsper1, Catsper2, Catsper3, and Catsper4 form protein multimer with hypothetical activities of flippase and disulfide isomerase.
Title: Intramembranal disulfide cross-linking elucidates the super-quaternary structure of mammalian CatSpers.
Both in vivo administration and in vitro application of bisphenol A impair mature sperm functions by a CatSper-relevant mechanism.
Title: Bisphenol A Impairs Mature Sperm Functions by a CatSper-Relevant Mechanism.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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
enables voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fusion of sperm to egg plasma membrane involved in single fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cilium beat frequency involved in ciliary motility	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of cilium beat frequency involved in ciliary motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of CatSper complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CatSper complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	ISO Inferred from Sequence Orthology more info
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cation channel sperm-associated protein 1

Names: sperm calcium channel 1; sperm ion channel; sperm protein CATSPER1

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)

NM_139301.3 → NP_647462.1 cation channel sperm-associated protein 1

See identical proteins and their annotated locations for NP_647462.1

Status: VALIDATED

Source sequence(s)

AC122861

Consensus CDS

CCDS29456.1

UniProtKB/Swiss-Prot

Q4PZC3, Q4PZC4, Q4PZC5, Q4PZC6, Q4PZD2, Q91ZR5

Related

ENSMUSP00000045430.4, ENSMUST00000043380.5

Conserved Domains (2) summary

pfam00520
Location:386 → 581

Ion_trans; Ion transport protein

pfam15502
Location:99 → 201

MPLKIP; M-phase-specific PLK1-interacting protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

5385643..5394309

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006531708.2 → XP_006531771.1 cation channel sperm-associated protein 1 isoform X1

UniProtKB/TrEMBL

A0A494B9U9

Related

ENSMUSP00000157759.2, ENSMUST00000235380.2

Conserved Domains (2) summary

pfam00520
Location:274 → 502

Ion_trans; Ion transport protein

pfam05110
Location:29 → 106

AF-4; AF-4 proto-oncoprotein
XM_017318141.1 → XP_017173630.1 cation channel sperm-associated protein 1 isoform X2

Conserved Domains (1) summary

pfam00520
Location:17 → 171

Ion_trans; Ion transport protein