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Q8NEC5

- CTSR1_HUMAN

UniProt

Q8NEC5 - CTSR1_HUMAN

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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

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 organism reproduction Source: Reactome
  7. multicellular organismal development Source: UniProtKB-KW
  8. regulation of calcium ion transport Source: Ensembl
  9. single fertilization Source: Reactome
  10. sperm motility Source: RefGenome
  11. sperm-egg recognition Source: Reactome
  12. spermatogenesis Source: UniProtKB-KW
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 445445Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei446 – 46621Helical; Name=Segment S1; Reviewed prediction
Add
BLAST
Topological domaini467 – 48519Extracellular Reviewed prediction
Add
BLAST
Transmembranei486 – 50621Helical; Name=Segment S2; Reviewed prediction
Add
BLAST
Topological domaini507 – 5159Cytoplasmic Reviewed prediction
Transmembranei516 – 53621Helical; Name=Segment S3; Reviewed prediction
Add
BLAST
Topological domaini537 – 5415Extracellular Reviewed prediction
Transmembranei542 – 56221Helical; Name=Segment S4; Reviewed prediction
Add
BLAST
Topological domaini563 – 57917Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei580 – 60021Helical; Name=Segment S5; Reviewed prediction
Add
BLAST
Topological domaini601 – 61515Extracellular Reviewed prediction
Add
BLAST
Intramembranei616 – 63621Helical; Pore-forming; Reviewed prediction
Add
BLAST
Topological domaini637 – 64610Extracellular Reviewed prediction
Transmembranei647 – 66721Helical; Name=Segment S6; Reviewed prediction
Add
BLAST
Topological domaini668 – 780113Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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

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 1
PRO_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 Reviewed prediction. 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.1 Publication

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.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi26 – 315290His-rich
Add
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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti88 – 881G → V in AAH32950. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 104 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

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