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Q8NEC5

- CTSR1_HUMAN

UniProt

Q8NEC5 - CTSR1_HUMAN

Protein

Cation channel sperm-associated protein 1

Gene

CATSPER1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    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.2 Publications

    GO - Molecular functioni

    1. calcium activated cation channel activity Source: InterPro
    2. protein binding Source: IntAct
    3. voltage-gated calcium channel activity Source: RefGenome

    GO - Biological processi

    1. calcium ion import Source: RefGenome
    2. cell differentiation Source: UniProtKB-KW
    3. cilium or flagellum-dependent cell motility Source: Ensembl
    4. fusion of sperm to egg plasma membrane Source: Ensembl
    5. membrane depolarization during action potential Source: RefGenome
    6. multicellular organismal development Source: UniProtKB-KW
    7. multicellular organism reproduction Source: Reactome
    8. regulation of calcium ion transport Source: Ensembl
    9. single fertilization Source: Reactome
    10. spermatogenesis Source: UniProtKB-KW
    11. sperm-egg recognition Source: Reactome
    12. sperm motility Source: RefGenome

    Keywords - Molecular functioni

    Calcium channel, Developmental protein, Ion channel, Voltage-gated channel

    Keywords - Biological processi

    Calcium transport, Differentiation, Ion transport, Spermatogenesis, Transport

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    ReactomeiREACT_163875. Sperm Motility And Taxes.

    Protein family/group databases

    TCDBi1.A.1.19.1. the voltage-gated ion channel (vic) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cation channel sperm-associated protein 1
    Short name:
    CatSper1
    Short name:
    hCatSper
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:17116. CATSPER1.

    Subcellular locationi

    Cell projectionciliumflagellum membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Note: Specifically located in the principal piece of sperm tail.

    GO - Cellular componenti

    1. CatSper complex Source: UniProtKB
    2. cilium Source: UniProtKB-KW
    3. plasma membrane Source: RefGenome

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Flagellum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi612997. phenotype.
    Orphaneti276234. Non syndromic male infertility due to sperm motility disorder.
    PharmGKBiPA38438.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 780780Cation channel sperm-associated protein 1PRO_0000295674Add
    BLAST

    Proteomic databases

    PaxDbiQ8NEC5.
    PRIDEiQ8NEC5.

    PTM databases

    PhosphoSiteiQ8NEC5.

    Expressioni

    Tissue specificityi

    Testis-specific.3 Publications

    Developmental stagei

    Expressed meiotically and post-meiotically.1 Publication

    Inductioni

    Down-regulated in patients lacking sperm motility.1 Publication

    Gene expression databases

    BgeeiQ8NEC5.
    CleanExiHS_CATSPER1.
    GenevestigatoriQ8NEC5.

    Interactioni

    Subunit structurei

    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.By similarity1 PublicationCurated

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CACNA1IQ9P0X45EBI-744545,EBI-1220829

    Protein-protein interaction databases

    BioGridi125556. 7 interactions.
    IntActiQ8NEC5. 9 interactions.
    MINTiMINT-1453027.
    STRINGi9606.ENSP00000309052.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NEC5.
    SMRiQ8NEC5. Positions 449-699.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 445445CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini467 – 48519ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini507 – 5159CytoplasmicSequence Analysis
    Topological domaini537 – 5415ExtracellularSequence Analysis
    Topological domaini563 – 57917CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini601 – 61515ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini637 – 64610ExtracellularSequence Analysis
    Topological domaini668 – 780113CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei616 – 63621Helical; Pore-formingSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei446 – 46621Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei486 – 50621Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei516 – 53621Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei542 – 56221Helical; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei580 – 60021Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei647 – 66721Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi26 – 315290His-richAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG270165.
    HOGENOMiHOG000112051.
    HOVERGENiHBG098336.
    InParanoidiQ8NEC5.
    KOiK16889.
    OMAiEWYFMAL.
    OrthoDBiEOG7FV3Q9.
    PhylomeDBiQ8NEC5.
    TreeFamiTF329330.

    Family and domain databases

    Gene3Di1.20.120.350. 1 hit.
    InterProiIPR028746. CatSper1.
    IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    [Graphical view]
    PANTHERiPTHR10037:SF32. PTHR10037:SF32. 1 hit.
    PfamiPF00520. Ion_trans. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8NEC5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDQNSVPEKA QNEADTNNAD RFFRSHSSPP HHRPGHSRAL HHYELHHHGV    50
    PHQRGESHHP PEFQDFHDQA LSSHVHQSHH HSEARNHGRA HGPTGFGLAP 100
    SQGAVPSHRS YGEDYHDELQ RDGRRHHDGS QYGGFHQQSD SHYHRGSHHG 150
    RPQYLGENLS HYSSGVPHHG EASHHGGSYL PHGPNPYSES FHHSEASHLS 200
    GLQHDESQHH QVPHRGWPHH HQVHHHGRSR HHEAHQHGKS PHHGETISPH 250
    SSVGSYQRGI SDYHSEYHQG DHHPSEYHHG DHPHHTQHHY HQTHRHRDYH 300
    QHQDHHGAYH SSYLHGDYVQ STSQLSIPHT SRSLIHDAPG PAASRTGVFP 350
    YHVAHPRGSA HSMTRSSSTI RSRVTQMSKK VHTQDISTKH SEDWGKEEGQ 400
    FQKRKTGRLQ RTRKKGHSTN LFQWLWEKLT FLIQGFREMI RNLTQSLAFE 450
    TFIFFVVCLN TVMLVAQTFA EVEIRGEWYF MALDSIFFCI YVVEALLKII 500
    ALGLSYFFDF WNNLDFFIMA MAVLDFLLMQ THSFAIYHQS LFRILKVFKS 550
    LRALRAIRVL RRLSFLTSVQ EVTGTLGQSL PSIAAILILM FTCLFLFSAV 600
    LRALFRKSDP KRFQNIFTTI FTLFTLLTLD DWSLIYMDSR AQGAWYIIPI 650
    LVIYIIIQYF IFLNLVITVL VDSFQTALFK GLEKAKQERA ARIQEKLLED 700
    SLTELRAAEP KEVASEGTML KRLIEKKFGT MTEKQQELLF HYLQLVASVE 750
    QEQQKFRSQA AVIDEIVDTT FEAGEEDFRN 780
    Length:780
    Mass (Da):90,091
    Last modified:May 18, 2010 - v3
    Checksum:iE09C4339F8AF5044
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti88 – 881G → V in AAH32950. (PubMed:16554811)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti133 – 1331G → S.
    Corresponds to variant rs1203998 [ dbSNP | Ensembl ].
    VAR_033304
    Natural varianti652 – 6521V → I.2 Publications
    Corresponds to variant rs3814747 [ dbSNP | Ensembl ].
    VAR_033305
    Natural varianti730 – 7301T → P.
    Corresponds to variant rs34958219 [ dbSNP | Ensembl ].
    VAR_033306

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF407333 mRNA. Translation: AAL14105.1.
    AP006287 Genomic DNA. No translation available.
    BC032950 mRNA. Translation: AAH32950.1.
    BC036522 mRNA. Translation: AAH36522.1.
    CCDSiCCDS8127.1.
    RefSeqiNP_444282.3. NM_053054.3.
    UniGeneiHs.189105.

    Genome annotation databases

    EnsembliENST00000312106; ENSP00000309052; ENSG00000175294.
    GeneIDi117144.
    KEGGihsa:117144.
    UCSCiuc001ogt.3. human.

    Polymorphism databases

    DMDMi296439381.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF407333 mRNA. Translation: AAL14105.1 .
    AP006287 Genomic DNA. No translation available.
    BC032950 mRNA. Translation: AAH32950.1 .
    BC036522 mRNA. Translation: AAH36522.1 .
    CCDSi CCDS8127.1.
    RefSeqi NP_444282.3. NM_053054.3.
    UniGenei Hs.189105.

    3D structure databases

    ProteinModelPortali Q8NEC5.
    SMRi Q8NEC5. Positions 449-699.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125556. 7 interactions.
    IntActi Q8NEC5. 9 interactions.
    MINTi MINT-1453027.
    STRINGi 9606.ENSP00000309052.

    Chemistry

    ChEMBLi CHEMBL1628462.
    GuidetoPHARMACOLOGYi 388.

    Protein family/group databases

    TCDBi 1.A.1.19.1. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei Q8NEC5.

    Polymorphism databases

    DMDMi 296439381.

    Proteomic databases

    PaxDbi Q8NEC5.
    PRIDEi Q8NEC5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312106 ; ENSP00000309052 ; ENSG00000175294 .
    GeneIDi 117144.
    KEGGi hsa:117144.
    UCSCi uc001ogt.3. human.

    Organism-specific databases

    CTDi 117144.
    GeneCardsi GC11M065784.
    GeneReviewsi CATSPER1.
    H-InvDB HIX0201680.
    HGNCi HGNC:17116. CATSPER1.
    MIMi 606389. gene.
    612997. phenotype.
    neXtProti NX_Q8NEC5.
    Orphaneti 276234. Non syndromic male infertility due to sperm motility disorder.
    PharmGKBi PA38438.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG270165.
    HOGENOMi HOG000112051.
    HOVERGENi HBG098336.
    InParanoidi Q8NEC5.
    KOi K16889.
    OMAi EWYFMAL.
    OrthoDBi EOG7FV3Q9.
    PhylomeDBi Q8NEC5.
    TreeFami TF329330.

    Enzyme and pathway databases

    Reactomei REACT_163875. Sperm Motility And Taxes.

    Miscellaneous databases

    GeneWikii CatSper1.
    GenomeRNAii 117144.
    NextBioi 80091.
    PROi Q8NEC5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NEC5.
    CleanExi HS_CATSPER1.
    Genevestigatori Q8NEC5.

    Family and domain databases

    Gene3Di 1.20.120.350. 1 hit.
    InterProi IPR028746. CatSper1.
    IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    [Graphical view ]
    PANTHERi PTHR10037:SF32. PTHR10037:SF32. 1 hit.
    Pfami PF00520. Ion_trans. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A sperm ion channel required for sperm motility and male fertility."
      Ren D., Navarro B., Perez G., Jackson A.C., Hsu S., Shi Q., Tilly J.L., Clapham D.E.
      Nature 413:603-609(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT ILE-652.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-652.
      Tissue: Testis.
    4. "CatSper gene expression in postnatal development of mouse testis and in subfertile men with deficient sperm motility."
      Nikpoor P., Mowla S.J., Movahedin M., Ziaee S.A.-M., Tiraihi T.
      Hum. Reprod. 19:124-128(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    5. "The expression and significance of CATSPER1 in human testis and ejaculated spermatozoa."
      Li H.-G., Liao A.-H., Ding X.-F., Zhou H., Xiong C.-L.
      Asian J. Androl. 8:301-306(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    6. "Association of Catsper1 or -2 with Ca(v)3.3 leads to suppression of T-type calcium channel activity."
      Zhang D., Chen J., Saraf A., Cassar S., Han P., Rogers J.C., Brioni J.D., Sullivan J.P., Gopalakrishnan M.
      J. Biol. Chem. 281:22332-22341(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CACNA1I.
    7. "Expression of CatSper family transcripts in the mouse testis during post-natal development and human ejaculated spermatozoa: relationship to sperm motility."
      Li H.-G., Ding X.-F., Liao A.-H., Kong X.-B., Xiong C.-L.
      Mol. Hum. Reprod. 13:299-306(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. Cited for: INVOLVEMENT IN SPGF7.
    9. "The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm."
      Strunker T., Goodwin N., Brenker C., Kashikar N.D., Weyand I., Seifert R., Kaupp U.B.
      Nature 471:382-386(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN ACTIVATION BY PROGESTERONE.
    10. "Progesterone activates the principal Ca2+ channel of human sperm."
      Lishko P.V., Botchkina I.L., Kirichok Y.
      Nature 471:387-391(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN ACTIVATION BY PROGESTERONE.

    Entry informationi

    Entry nameiCTSR1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NEC5
    Secondary accession number(s): Q96P76
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 24, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 105 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3