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Aliases for CATSPER1 Gene

Aliases for CATSPER1 Gene

  • Cation Channel, Sperm Associated 1 2 3
  • HCatSper 3 4
  • Sperm-Associated Cation Channel 1 3
  • Sperm Ion Channel 3
  • CatSper1 4
  • CATSPER 3
  • 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 non-syndromic male infertility due to sperm motility disorder and catsper-related nonsyndromic male infertility. Among its related pathways are Sweet Taste Signaling and Reproduction. GO annotations related to this gene include ion channel activity and calcium activated cation channel activity.

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. Activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2. 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. Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH.

Gene Wiki entry for CATSPER1 Gene

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

Genomics for CATSPER1 Gene

Regulatory Elements for CATSPER1 Gene

Genomic Location for CATSPER1 Gene

Chromosome:
11
Start:
66,016,752 bp from pter
End:
66,026,519 bp from pter
Size:
9,768 bases
Orientation:
Minus strand

Genomic View for CATSPER1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CATSPER1 Gene at MOPED

Post-translational modifications for CATSPER1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CATSPER1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CATSPER1 Gene

Domains & Families for CATSPER1 Gene

Gene Families for CATSPER1 Gene

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

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. Activated by extracellular progesterone and prostaglandins following the sequence: progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2. 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. Sperm capacitation enhances the effect of progesterone by providing additional negative shift. Also activated by the elevation of intracellular pH.
UniProtKB/Swiss-Prot Induction:
Down-regulated in patients lacking sperm motility.

Gene Ontology (GO) - Molecular Function for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005227 calcium activated cation channel activity --
GO:0005245 voltage-gated calcium channel activity IBA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CATSPER1: view

Phenotypes for CATSPER1 Gene

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

Animal Models for CATSPER1 Gene

MGI Knock Outs for CATSPER1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CATSPER1

In Situ Assay Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for CATSPER1 Gene COMPARTMENTS Subcellular localization image for CATSPER1 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0031514 motile cilium IEA --
GO:0036128 CatSper complex ISS --
genes like me logo Genes that share ontologies with CATSPER1: view

Pathways & Interactions for CATSPER1 Gene

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

Pathways by source for CATSPER1 Gene

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

Gene Ontology (GO) - Biological Process for CATSPER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006816 calcium ion transport --
GO:0007275 multicellular organismal development IEA --
GO:0007283 spermatogenesis IEA --
GO:0007338 single fertilization TAS --
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

(11) Drugs for CATSPER1 Gene - From: IUPHAR, DGIdb, NovoSeek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved Pharma Inhibition, Pore Blocker, inhibitor Endogenous progesterone receptor agonist 473
Mibefradil Withdrawn Pharma Antagonist, Pore Blocker, blocker 3
NNC55-0396 Pharma Inhibition, Pore Blocker 0
PGE<sub>1</sub> Pharma Full agonist, Activator 0
PGE<sub>2</sub> Pharma Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HC056456
Channel blocker
PGF<sub>1alpha</sub>
Full agonist, Activator
genes like me logo Genes that share compounds with CATSPER1: view

Transcripts for CATSPER1 Gene

mRNA/cDNA 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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CATSPER1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CATSPER1 Gene

GeneLoc Exon Structure for
CATSPER1
ECgene alternative splicing isoforms for
CATSPER1

Expression for CATSPER1 Gene

mRNA expression in normal human tissues 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).

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.
genes like me logo Genes that share expression patterns with CATSPER1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia CATSPER1 35
  • 71.36 (n)
  • 59.15 (a)
CATSPER1 36
  • 56 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CATSPER1 35
  • 76.46 (n)
  • 67.23 (a)
CATSPER1 36
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Catsper1 35
  • 67.97 (n)
  • 58.79 (a)
Catsper1 16
Catsper1 36
  • 49 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CATSPER1 35
  • 98.93 (n)
  • 98.21 (a)
CATSPER1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Catsper1 35
  • 64.79 (n)
  • 55.79 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CATSPER1 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CATSPER1 36
  • 47 (a)
OneToOne
Species with no ortholog for CATSPER1:
  • 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

ENSEMBL:
Gene Tree for CATSPER1 (if available)
TreeFam:
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

No data available for Paralogs for CATSPER1 Gene

Variants for CATSPER1 Gene

Sequence variations from dbSNP and Humsavar for CATSPER1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs548495 -- 66,016,266(+) TGGGG(C/T)TCTAG downstream-variant-500B
rs668210 -- 66,016,444(-) ACCCC(A/G)GGGTT downstream-variant-500B
rs683191 -- 66,025,095(+) TGCGG(G/T)GCCGA intron-variant
rs947847 -- 66,026,471(+) GCTCA(A/G)TGCAG utr-variant-5-prime, nc-transcript-variant
rs948477 -- 66,026,387(+) CTGTG(C/T)TGGGA utr-variant-5-prime, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv832191 CNV Loss 17160897
dgv1186n71 CNV Loss 21882294
nsv825954 CNV Loss 20364138

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

HapMap Linkage Disequilibrium report
CATSPER1
Human Gene Mutation Database (HGMD)
CATSPER1

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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

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

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.

Relevant External Links for CATSPER1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CATSPER1
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 M.R. … Smith R.J.H. (Am. J. Hum. Genet. 2009) 23 67
  2. Expression of CatSper family transcripts in the mouse testis during post-natal development and human ejaculated spermatozoa: relationship to sperm motility. (PMID: 17347248) Li H.-G. … Xiong C.-L. (Mol. Hum. Reprod. 2007) 23 67
  3. Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca2+ channel. (PMID: 16467839) Kirichok Y. … Clapham D.E. (Nature 2006) 23 67
  4. The expression and significance of CATSPER1 in human testis and ejaculated spermatozoa. (PMID: 16625279) Li H.-G. … Xiong C.-L. (Asian J. Androl. 2006) 23 67
  5. International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. (PMID: 16382101) Clapham D.E. … Garbers D.L. (Pharmacol. Rev. 2005) 2 67

Products for CATSPER1 Gene

Sources for CATSPER1 Gene

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