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Protein

Cation channel sperm-associated protein 1

Gene

CATSPER1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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. voltage-gated calcium channel activity Source: GO_Central

GO - Biological processi

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 445445CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei446 – 46621Helical; Name=Segment S1Sequence AnalysisAdd
BLAST
Topological domaini467 – 48519ExtracellularSequence AnalysisAdd
BLAST
Transmembranei486 – 50621Helical; Name=Segment S2Sequence AnalysisAdd
BLAST
Topological domaini507 – 5159CytoplasmicSequence Analysis
Transmembranei516 – 53621Helical; Name=Segment S3Sequence AnalysisAdd
BLAST
Topological domaini537 – 5415ExtracellularSequence Analysis
Transmembranei542 – 56221Helical; Name=Segment S4Sequence AnalysisAdd
BLAST
Topological domaini563 – 57917CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei580 – 60021Helical; Name=Segment S5Sequence AnalysisAdd
BLAST
Topological domaini601 – 61515ExtracellularSequence AnalysisAdd
BLAST
Intramembranei616 – 63621Helical; Pore-formingSequence AnalysisAdd
BLAST
Topological domaini637 – 64610ExtracellularSequence Analysis
Transmembranei647 – 66721Helical; Name=Segment S6Sequence AnalysisAdd
BLAST
Topological domaini668 – 780113CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Flagellum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure 7 (SPGF7)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:612997

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 similarityCurated1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi125556. 34 interactions.
IntActiQ8NEC5. 9 interactions.
MINTiMINT-1453027.
STRINGi9606.ENSP00000309052.

Structurei

3D structure databases

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

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.
GeneTreeiENSGT00720000108882.
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

        10         20         30         40         50
MDQNSVPEKA QNEADTNNAD RFFRSHSSPP HHRPGHSRAL HHYELHHHGV
60 70 80 90 100
PHQRGESHHP PEFQDFHDQA LSSHVHQSHH HSEARNHGRA HGPTGFGLAP
110 120 130 140 150
SQGAVPSHRS YGEDYHDELQ RDGRRHHDGS QYGGFHQQSD SHYHRGSHHG
160 170 180 190 200
RPQYLGENLS HYSSGVPHHG EASHHGGSYL PHGPNPYSES FHHSEASHLS
210 220 230 240 250
GLQHDESQHH QVPHRGWPHH HQVHHHGRSR HHEAHQHGKS PHHGETISPH
260 270 280 290 300
SSVGSYQRGI SDYHSEYHQG DHHPSEYHHG DHPHHTQHHY HQTHRHRDYH
310 320 330 340 350
QHQDHHGAYH SSYLHGDYVQ STSQLSIPHT SRSLIHDAPG PAASRTGVFP
360 370 380 390 400
YHVAHPRGSA HSMTRSSSTI RSRVTQMSKK VHTQDISTKH SEDWGKEEGQ
410 420 430 440 450
FQKRKTGRLQ RTRKKGHSTN LFQWLWEKLT FLIQGFREMI RNLTQSLAFE
460 470 480 490 500
TFIFFVVCLN TVMLVAQTFA EVEIRGEWYF MALDSIFFCI YVVEALLKII
510 520 530 540 550
ALGLSYFFDF WNNLDFFIMA MAVLDFLLMQ THSFAIYHQS LFRILKVFKS
560 570 580 590 600
LRALRAIRVL RRLSFLTSVQ EVTGTLGQSL PSIAAILILM FTCLFLFSAV
610 620 630 640 650
LRALFRKSDP KRFQNIFTTI FTLFTLLTLD DWSLIYMDSR AQGAWYIIPI
660 670 680 690 700
LVIYIIIQYF IFLNLVITVL VDSFQTALFK GLEKAKQERA ARIQEKLLED
710 720 730 740 750
SLTELRAAEP KEVASEGTML KRLIEKKFGT MTEKQQELLF HYLQLVASVE
760 770 780
QEQQKFRSQA AVIDEIVDTT FEAGEEDFRN
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi125556. 34 interactions.
IntActiQ8NEC5. 9 interactions.
MINTiMINT-1453027.
STRINGi9606.ENSP00000309052.

Chemistry

ChEMBLiCHEMBL1628462.
GuidetoPHARMACOLOGYi388.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ8NEC5.

Polymorphism databases

DMDMi296439381.

Proteomic databases

PaxDbiQ8NEC5.
PRIDEiQ8NEC5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi117144.
GeneCardsiGC11M065784.
GeneReviewsiCATSPER1.
H-InvDBHIX0201680.
HGNCiHGNC:17116. CATSPER1.
MIMi606389. gene.
612997. phenotype.
neXtProtiNX_Q8NEC5.
Orphaneti276234. Non-syndromic male infertility due to sperm motility disorder.
PharmGKBiPA38438.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG270165.
GeneTreeiENSGT00720000108882.
HOGENOMiHOG000112051.
HOVERGENiHBG098336.
InParanoidiQ8NEC5.
KOiK16889.
OMAiEWYFMAL.
OrthoDBiEOG7FV3Q9.
PhylomeDBiQ8NEC5.
TreeFamiTF329330.

Enzyme and pathway databases

ReactomeiREACT_163875. Sperm Motility And Taxes.

Miscellaneous databases

GeneWikiiCatSper1.
GenomeRNAii117144.
NextBioi80091.
PROiQ8NEC5.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NEC5.
CleanExiHS_CATSPER1.
GenevestigatoriQ8NEC5.

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]
ProtoNetiSearch...

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(2000) [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(2003) [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(2003) [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(2005) [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(2005) [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(2006) [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(2010) [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(2010) [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: February 4, 2015
This is version 108 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.