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Aliases for CATSPER1 Gene

Aliases for CATSPER1 Gene

  • Cation Channel Sperm Associated 1 2 3 5
  • HCatSper 3 4
  • Cation Channel Sperm-Associated Protein 1 3
  • Cation Channel, Sperm Associated 1 2
  • Sperm-Associated Cation Channel 1 3
  • Sperm Ion Channel 3
  • CatSper1 4
  • SPGF7 3

External Ids for CATSPER1 Gene

Previous GeneCards Identifiers for CATSPER1 Gene

  • GC11M068318
  • GC11M067465
  • GC11M065559
  • GC11M065540
  • GC11M065784
  • GC11M062110

Summaries for CATSPER1 Gene

Entrez Gene Summary for CATSPER1 Gene

  • 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]

GeneCards Summary for CATSPER1 Gene

CATSPER1 (Cation Channel Sperm Associated 1) is a Protein Coding gene. Diseases associated with CATSPER1 include Spermatogenic Failure 7 and Catsper-Related Male Infertility. Among its related pathways are Reproduction and Sweet Taste Signaling. GO annotations related to this gene include ion channel activity and calcium activated cation channel activity. An important paralog of this gene is CACNA1C.

UniProtKB/Swiss-Prot for CATSPER1 Gene

  • Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.

Gene Wiki entry for CATSPER1 Gene

Additional gene information for CATSPER1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CATSPER1 Gene

Genomics for CATSPER1 Gene

Regulatory Elements for CATSPER1 Gene

Enhancers for CATSPER1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H065787 1.4 FANTOM5 ENCODE dbSUPER 28.7 +237.9 237887 4.4 GTF2F1 CTCF PKNOX1 FOXA2 SIN3A E2F1 CTBP1 GATA3 POLR2A ZNF26 CATSPER1 KRT8P26 MAP3K11 ZFPL1 ENSG00000258297 MEN1 SYVN1 LOC105369352 ENSG00000255038 RBM14
GH11H066111 1.5 Ensembl ENCODE dbSUPER 11.4 -89.6 -89647 10.3 HNRNPUL1 HDGF PKNOX1 FOXA2 ATF1 ARID4B SIN3A ATF7 FOS RUNX3 ENSG00000255320 SF3B2 SART1 EIF1AD ENSG00000258297 ENSG00000255038 PACS1 KAT5 RBM14 CD248
GH11H066106 1.2 Ensembl ENCODE dbSUPER 11.2 -80.8 -80838 1.3 FOXA2 SAP130 MAX BATF ZKSCAN1 IKZF1 SCRT2 EED ZNF24 RUNX3 ENSG00000255320 PACS1 ENSG00000255038 CATSPER1 CST6 BANF1 EIF1AD CD248 TMEM151A LOC105369354
GH11H066020 1.2 Ensembl ENCODE 9.2 +5.0 4960 3 ELF3 RB1 ARID4B RAD21 EGR1 ZNF143 FOS RUNX3 CREM EGR2 SF3B2 RAB1B CATSPER1 TMEM151A CST6
GH11H066050 1.1 ENCODE 8.1 -25.7 -25738 3.1 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF207 SF3B2 RBM14 ENSG00000254461 LOC105369352 RBM4 POLA2 ENSG00000258297 KAT5 DPF2 SSSCA1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CATSPER1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CATSPER1 Gene

Genomic Locations for CATSPER1 Gene
9,768 bases
Minus strand

Genomic View for CATSPER1 Gene

Genes around CATSPER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CATSPER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CATSPER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CATSPER1 Gene

Proteins for CATSPER1 Gene

  • Protein details for CATSPER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cation channel sperm-associated protein 1
    Protein Accession:
    Secondary Accessions:
    • Q96P76

    Protein attributes for CATSPER1 Gene

    780 amino acids
    Molecular mass:
    90091 Da
    Quaternary structure:
    • Heterotetramer; possibly composed of CATSPER1, CATSPER2, CATSPER3 and CATSPER4 (Potential). Component of the CatSper complex. Interacts with CATSPER3 and CATSPER4 (By similarity). Interacts with Ca(v)3.3/CACNA1I, leading to suppress T-type calcium channel activity.

neXtProt entry for CATSPER1 Gene

Post-translational modifications for CATSPER1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CATSPER1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CATSPER1 Gene

Domains & Families for CATSPER1 Gene

Gene Families for CATSPER1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for CATSPER1 Gene


Suggested Antigen Peptide Sequences for CATSPER1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
  • Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
genes like me logo Genes that share domains with CATSPER1: view

Function for CATSPER1 Gene

Molecular function for CATSPER1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
The CatSper calcium channel is indirectly activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2 (PubMed:21412338, PubMed:21412339, PubMed:26989199). The CatSper calcium channel is directly inhibited by endocannabinoid 2-arachidonoylglycerol (2AG) (PubMed:26989199). Indirect activation by progesterone takes place via the following mechanism: progesterone binds and activates the acylglycerol lipase ABHD2, which in turn mediates hydrolysis of 2AG inhibitor, relieving inhibition of the CatSper channel (PubMed:26989199). The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second messengers (PubMed:21412338, PubMed:21412339). Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH (PubMed:21412338, PubMed:21412339).
UniProtKB/Swiss-Prot Function:
Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte.
UniProtKB/Swiss-Prot Induction:
Down-regulated in patients lacking sperm motility.

Phenotypes From GWAS Catalog for CATSPER1 Gene

Gene Ontology (GO) - Molecular Function for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005227 calcium activated cation channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA --
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CATSPER1: view
genes like me logo Genes that share phenotypes with CATSPER1: view

Human Phenotype Ontology for CATSPER1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CATSPER1 Gene

MGI Knock Outs for CATSPER1:

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CATSPER1 Gene

Localization for CATSPER1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CATSPER1 Gene

Cell projection, cilium, flagellum membrane; Multi-pass membrane protein. Note=Specifically located in the principal piece of sperm tail.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CATSPER1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with CATSPER1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CATSPER1 Gene

Pathways & Interactions for CATSPER1 Gene

genes like me logo Genes that share pathways with CATSPER1: view

Pathways by source for CATSPER1 Gene

3 Reactome pathways for CATSPER1 Gene
1 Qiagen pathway for CATSPER1 Gene

Gene Ontology (GO) - Biological Process for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with CATSPER1: view

No data available for SIGNOR curated interactions for CATSPER1 Gene

Drugs & Compounds for CATSPER1 Gene

(13) Drugs for CATSPER1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved, Vet_approved Pharma Full agonist, Activator, inhibitor 578
Calcium Citrate Approved Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0
Mibefradil Withdrawn Pharma Channel blocker, blocker Calcium channel blocker 3
NNC55-0396 Pharma Inhibition, Pore Blocker 0

(2) Additional Compounds for CATSPER1 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Channel blocker
Full agonist, Activator
genes like me logo Genes that share compounds with CATSPER1: view

Transcripts for CATSPER1 Gene


(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(29) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CATSPER1 Gene

Cation channel, sperm associated 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CATSPER1 Gene

No ASD Table

Relevant External Links for CATSPER1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CATSPER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CATSPER1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CATSPER1 Gene

This gene is overexpressed in Testis (x30.5) and Whole Blood (x10.0).

NURSA nuclear receptor signaling pathways regulating expression of CATSPER1 Gene:


SOURCE GeneReport for Unigene cluster for CATSPER1 Gene:


mRNA Expression by UniProt/SwissProt for CATSPER1 Gene:

Tissue specificity: Testis-specific.

Phenotype-based relationships between genes and organs from Gene ORGANizer for CATSPER1 Gene

Germ Layers:
  • mesoderm
  • reproductive
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with CATSPER1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for CATSPER1 Gene

Orthologs for CATSPER1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CATSPER1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CATSPER1 33 34
  • 98.93 (n)
(Canis familiaris)
Mammalia CATSPER1 33 34
  • 76.46 (n)
(Bos Taurus)
Mammalia CATSPER1 33 34
  • 71.36 (n)
(Mus musculus)
Mammalia Catsper1 33 16 34
  • 67.97 (n)
(Rattus norvegicus)
Mammalia Catsper1 33
  • 64.79 (n)
(Ornithorhynchus anatinus)
Mammalia CATSPER1 34
  • 38 (a)
(Anolis carolinensis)
Reptilia CATSPER1 34
  • 47 (a)
Species where no ortholog for CATSPER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CATSPER1 Gene

Gene Tree for CATSPER1 (if available)
Gene Tree for CATSPER1 (if available)

Paralogs for CATSPER1 Gene

(2) SIMAP similar genes for CATSPER1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CATSPER1: view

Variants for CATSPER1 Gene

Sequence variations from dbSNP and Humsavar for CATSPER1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs193929390 Pathogenic 66,025,840(-) TACCT(-/T)CCCCC nc-transcript-variant, reference, frameshift-variant
rs193929391 Pathogenic 66,025,431(-) ATGGC(-/ATGGC)GACTA nc-transcript-variant, reference, frameshift-variant
rs1203998 Likely benign 66,025,983(-) AATAC(A/G)GTGGG nc-transcript-variant, reference, missense
rs1893316 Likely benign 66,026,326(-) AATAA(C/T)GCAGA nc-transcript-variant, reference, synonymous-codon
rs2845570 Likely benign 66,023,056(+) GAGCC(G/T)GCCGG nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CATSPER1 Gene

Variant ID Type Subtype PubMed ID
nsv825954 CNV loss 20364138
nsv832191 CNV loss 17160897

Variation tolerance for CATSPER1 Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CATSPER1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CATSPER1 Gene

Disorders for CATSPER1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CATSPER1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 7
  • nonsyndromic male infertility, autosomal recessive
catsper-related male infertility
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
spermatic cord torsion
  • testicular torsion
testicular disease
  • disorder of testis
- elite association - COSMIC cancer census association via MalaCards


  • Spermatogenic failure 7 (SPGF7) [MIM:612997]: An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume. {ECO:0000269 PubMed:19344877}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CATSPER1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CATSPER1: view

No data available for Genatlas for CATSPER1 Gene

Publications for CATSPER1 Gene

  1. Human male infertility caused by mutations in the CATSPER1 channel protein. (PMID: 19344877) Avenarius MR … Smith RJ (American journal of human genetics 2009) 3 4 22 60
  2. The expression and significance of CATSPER1 in human testis and ejaculated spermatozoa. (PMID: 16625279) Li HG … Xiong CL (Asian journal of andrology 2006) 3 4 22 60
  3. A sperm ion channel required for sperm motility and male fertility. (PMID: 11595941) Ren D … Clapham DE (Nature 2001) 2 3 4 60
  4. The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm. (PMID: 21412338) Strünker T … Kaupp UB (Nature 2011) 3 4 60
  5. Progesterone activates the principal Ca2+ channel of human sperm. (PMID: 21412339) Lishko PV … Kirichok Y (Nature 2011) 3 4 60

Products for CATSPER1 Gene

Sources for CATSPER1 Gene

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