CATSPER1 cation channel sperm associated 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CATSPER1provided by HGNC
Official Full Name: cation channel sperm associated 1provided by HGNC
Primary source: HGNC:HGNC:17116
See related: Ensembl:ENSG00000175294 MIM:606389; AllianceGenome:HGNC:17116
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPGF7; CATSPER
Summary: Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 8.9) See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66016752..66026479, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (66010876..66020602, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65784223..65793950, complement)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues 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?

Flagellar pH homeostasis mediated by Na+/H+ exchangers regulates human sperm functions through coupling with CatSper and KSper activation.
Title: Flagellar pH homeostasis mediated by Na+/H+ exchangers regulates human sperm functions through coupling with CatSper and KSper activation.
Both protein and non-protein components in extracellular vesicles of human seminal plasma improve human sperm function via CatSper-mediated calcium signaling.
Title: Both protein and non-protein components in extracellular vesicles of human seminal plasma improve human sperm function via CatSper-mediated calcium signaling.
Overview of the complications of diabetes.
Title: Overview of the complications of diabetes.
CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic Semen.
Title: CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic Semen.
Roles of CatSper channels in the pathogenesis of asthenozoospermia and the therapeutic effects of acupuncture-like treatment on asthenozoospermia.
Title: Roles of CatSper channels in the pathogenesis of asthenozoospermia and the therapeutic effects of acupuncture-like treatment on asthenozoospermia.
CatSper: The complex main gate of calcium entry in mammalian spermatozoa.
Title: CatSper: The complex main gate of calcium entry in mammalian spermatozoa.
Catsper1 tyrosine phosphorylation functions as an intracellular sensor for Ca (2+) entry in human sperm through regulation of cytoplasmic pH.
Title: Tyrosine phosphorylation signaling regulates Ca(2+) entry by affecting intracellular pH during human sperm capacitation.
The human CATSPER1 promoter is positively regulated in vitro by CREB-A in HEK293 and GC1-spg cells. Both lines showed differential transcriptional regulation, which was defined by the factors and coactivators present in each cell line as well as the context in which the CRE sites were found in the promoter.
Title: Human CATSPER1 Promoter Is Regulated by CREB1 and CREMτ Transcriptional Factors In Vitro.
results show that the transcriptional factor SRY specifically binds to different sites in the promoter sequence and has the ability to control CATSPER1 gene transcription.
Title: Regulation of CATSPER1 expression by the testis-determining gene SRY.
explored whether steroid hormones to which human spermatozoa are exposed in the male and female genital tract influence CatSper activation via modulation of ABHD2
Title: Regulation of the sperm calcium channel CatSper by endogenous steroids and plant triterpenoids.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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

Associated conditions

Description	Tests
Spermatogenic failure 7 MedGen: C2751811 OMIM: 612997 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
enables voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed

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
involved_in calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
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
involved_in regulation of cilium beat frequency involved in ciliary motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	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
located_in plasma membrane	TAS Traceable Author Statement more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm principal piece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cation channel sperm-associated protein 1

Names: hCatSper; sperm ion channel; sperm-associated cation channel 1

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.

Genomic

NG_016285.1 RefSeqGene

Range

5039..14766

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_053054.4 → NP_444282.3 cation channel sperm-associated protein 1

See identical proteins and their annotated locations for NP_444282.3

Status: REVIEWED

Source sequence(s)

AF407333, AP006287, BC032950, BC036522

Consensus CDS

CCDS8127.1

UniProtKB/Swiss-Prot

Q8NEC5, Q96P76

Related

ENSP00000309052.5, ENST00000312106.6

Conserved Domains (2) summary

pfam00520
Location:483 → 677

Ion_trans; Ion transport protein

pfam07695
Location:486 → 629

7TMR-DISM_7TM; 7TM diverse intracellular signalling

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

66016752..66026479 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426337.1 → XP_047282293.1 cation channel sperm-associated protein 1 isoform X1
XM_047426338.1 → XP_047282294.1 cation channel sperm-associated protein 1 isoform X2

RNA

XR_002957121.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

66010876..66020602 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367611.1 → XP_054223586.1 cation channel sperm-associated protein 1 isoform X1
XM_054367612.1 → XP_054223587.1 cation channel sperm-associated protein 1 isoform X2