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] See more...

Aliases for CATSPER1 Gene

Aliases for CATSPER1 Gene

  • Cation Channel Sperm Associated 1 2 3 5
  • Cation Channel Sperm-Associated Protein 1 3 4
  • HCatSper 3 4
  • CATSPER 2 3
  • Cation Channel, Sperm Associated 1 2
  • Sperm-Associated Cation Channel 1 3
  • Sperm Ion Channel 3
  • CATSPER1 5
  • 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 Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Sweet Taste Signaling and Fertilization. Gene Ontology (GO) annotations related to this gene include ion channel activity and calcium activated cation channel activity. An important paralog of this gene is SCN8A.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CATSPER1 Gene

Genomics for CATSPER1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CATSPER1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J066026 Promoter 0.6 EPDnew 600.7 +0.0 19 0.1 ADNP ATF2 CREB1 CATSPER1 SF3B2 lnc-EIF1AD-3 CST6 RF00017-949
GH11J065787 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.7 +237.1 237111 6.8 SP1 ZBTB33 POLR2A BACH1 TARDBP FOXA1 LARP7 ZNF143 TCF12 IKZF2 OVOL1 piR-44329 CATSPER1 KRT8P26 EHBP1L1 MAP3K11 ZFPL1 MEN1 EFEMP2 SYVN1
GH11J066048 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 20.8 -24.5 -24548 5.9 SP1 CREB1 PRDM10 ZNF629 TFE3 RFX1 SIX5 IKZF1 NFKBIZ ZNF692 SF3B2 GAL3ST3 lnc-CATSPER1-2 lnc-SF3B2-1 lnc-GAL3ST3-1 RBM14 RBM4 MUS81 POLA2 SART1
GH11J066111 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -89.6 -89647 10.3 CREB1 ATF7 ZNF629 RCOR2 POLR2A JUND FOXA1 PRDM1 RFX1 RELA ENSG00000255320 SF3B2 SART1 EIF1AD ENSG00000255038 PACS1 KAT5 RBM14 CD248 RELA
GH11J065945 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 10.8 +80.8 80843 1.5 GATAD2A RFX1 POLR2A CEBPA SCRT2 MNT FOXP1 SMAD4 RARA TAF1 LOC105369350 TSGA10IP EIF1AD C11orf68 DRAP1 FOSL1 BANF1 CST6 CTSW EFEMP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CATSPER1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CATSPER1

Top Transcription factor binding sites by QIAGEN in the CATSPER1 gene promoter:
  • E47
  • Elk-1
  • FOXO1
  • FOXO1a
  • Hand1
  • Max1
  • NF-1
  • NF-1/L
  • Pax-5
  • STAT3

Genomic Locations for CATSPER1 Gene

Genomic Locations for CATSPER1 Gene
chr11:66,016,752-66,026,518
(GRCh38/hg38)
Size:
9,767 bases
Orientation:
Minus strand
chr11:65,784,223-65,793,988
(GRCh37/hg19)
Size:
9,766 bases
Orientation:
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:
    Q8NEC5-CTSR1_HUMAN
    Recommended name:
    Cation channel sperm-associated protein 1
    Protein Accession:
    Q8NEC5
    Secondary Accessions:
    • Q96P76

    Protein attributes for CATSPER1 Gene

    Size:
    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

HGNC:
IUPHAR :
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:
  • Cation channel sperm-associated protein 1 (CTSR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NEC5

UniProtKB/Swiss-Prot:

CTSR1_HUMAN :
  • Belongs to the cation channel sperm-associated (TC 1.A.1.19) family.
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 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.
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).

Phenotypes From GWAS Catalog for CATSPER1 Gene

Gene Ontology (GO) - Molecular Function for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005227 calcium activated cation channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IBA 21873635
GO:0005262 calcium channel activity IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPER1

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

COMPARTMENTS
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
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane 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

PathCards logo

SuperPathways for CATSPER1 Gene

SuperPathway Contained pathways
1 Fertilization
2 Sweet Taste Signaling
.37
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
  • Sperm Motility

Gene Ontology (GO) - Biological Process for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IBA 21873635
GO:0030154 cell differentiation 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

(14) 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 Activator, Full agonist, Agonist, Pore Blocker, Inhibition, inhibitor Endogenous progesterone receptor agonist 755
Calcium citrate Approved, Investigational Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0
Calcium phosphate dihydrate Approved Pharma Transporter 0
Mibefradil Investigational, Withdrawn Pharma Channel blocker, Pore Blocker, Antagonist, Inhibition, blocker Calcium channel blocker 3

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HC056456
Channel blocker
genes like me logo Genes that share compounds with CATSPER1: view

Transcripts for CATSPER1 Gene

mRNA/cDNA for CATSPER1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CATSPER1

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

No ASD Table

Relevant External Links for CATSPER1 Gene

GeneLoc Exon Structure for
CATSPER1

Expression for CATSPER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CATSPER1

SOURCE GeneReport for Unigene cluster for CATSPER1 Gene:

Hs.189105

mRNA Expression by UniProt/SwissProt for CATSPER1 Gene:

Q8NEC5-CTSR1_HUMAN
Tissue specificity: Testis-specific.

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

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

Primer Products

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
Chimpanzee
(Pan troglodytes)
Mammalia CATSPER1 30 31
  • 98.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CATSPER1 30 31
  • 76.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CATSPER1 30 31
  • 71.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Catsper1 30 17 31
  • 67.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Catsper1 30
  • 64.79 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CATSPER1 31
  • 38 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CATSPER1 31
  • 47 (a)
OneToOne
Species where no ortholog for CATSPER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for CATSPER1 (if available)
TreeFam:
Gene Tree for CATSPER1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CATSPER1: view image

Paralogs for CATSPER1 Gene

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

  • CTSR1_HUMAN
genes like me logo Genes that share paralogs with CATSPER1: view

Variants for CATSPER1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CATSPER1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
711064 Conflicting Interpretations: Spermatogenic failure 7; not provided 66,025,384(-) C/G SYNONYMOUS_VARIANT
722395 Likely Benign: not provided 66,026,149(-) T/A MISSENSE_VARIANT
768456 Benign/Likely Benign: Spermatogenic failure 7; not provided 66,021,536(-) G/A SYNONYMOUS_VARIANT
768457 Benign/Likely Benign: Spermatogenic failure 7; not provided 66,025,323(-) C/T MISSENSE_VARIANT
789626 Benign: not provided 66,022,988(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CATSPER1 Gene

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)

Additional Variant Information for CATSPER1 Gene

Human Gene Mutation Database (HGMD)
CATSPER1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CATSPER1

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

Disorders for CATSPER1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CATSPER1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 7
  • spgf7
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
infertility
catsper-related male infertility
male infertility
  • infertility male
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CTSR1_HUMAN
  • 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.
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 23
  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 23
  3. A sperm ion channel required for sperm motility and male fertility. (PMID: 11595941) Ren D … Clapham DE (Nature 2001) 2 3 4
  4. The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm. (PMID: 21412338) Strünker T … Kaupp UB (Nature 2011) 3 4
  5. Progesterone activates the principal Ca2+ channel of human sperm. (PMID: 21412339) Lishko PV … Kirichok Y (Nature 2011) 3 4

Products for CATSPER1 Gene

  • Signalway Proteins for CATSPER1

Sources for CATSPER1 Gene