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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.2 Publications

Enzyme regulationi

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).3 Publications

GO - Molecular functioni

GO - Biological processi

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

BioCyciZFISH:ENSG00000175294-MONOMER.
ReactomeiR-HSA-1300642. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:17116. CATSPER1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 445CytoplasmicSequence analysisAdd BLAST445
Transmembranei446 – 466Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini467 – 485ExtracellularSequence analysisAdd BLAST19
Transmembranei486 – 506Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini507 – 515CytoplasmicSequence analysis9
Transmembranei516 – 536Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini537 – 541ExtracellularSequence analysis5
Transmembranei542 – 562Helical; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini563 – 579CytoplasmicSequence analysisAdd BLAST17
Transmembranei580 – 600Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini601 – 615ExtracellularSequence analysisAdd BLAST15
Intramembranei616 – 636Helical; Pore-formingSequence analysisAdd BLAST21
Topological domaini637 – 646ExtracellularSequence analysis10
Transmembranei647 – 667Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini668 – 780CytoplasmicSequence analysisAdd BLAST113

GO - Cellular componenti

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

DisGeNETi117144.
MalaCardsiCATSPER1.
MIMi612997. phenotype.
OpenTargetsiENSG00000175294.
Orphaneti276234. Non-syndromic male infertility due to sperm motility disorder.
PharmGKBiPA38438.

Chemistry databases

GuidetoPHARMACOLOGYi388.

Polymorphism and mutation databases

BioMutaiCATSPER1.
DMDMi296439381.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002956741 – 780Cation channel sperm-associated protein 1Add BLAST780

Proteomic databases

PaxDbiQ8NEC5.
PeptideAtlasiQ8NEC5.
PRIDEiQ8NEC5.

PTM databases

iPTMnetiQ8NEC5.
PhosphoSitePlusiQ8NEC5.

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

BgeeiENSG00000175294.
CleanExiHS_CATSPER1.
GenevisibleiQ8NEC5. HS.

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
AGR2O959943EBI-744545,EBI-712648
APOA2P026525EBI-744545,EBI-1171525
CACNA1IQ9P0X45EBI-744545,EBI-1220829
CHRDQ9H2X03EBI-744545,EBI-947551
EMDP504023EBI-744545,EBI-489887
KHDRBS2Q5VWX15EBI-744545,EBI-742808
KPRPQ5T7494EBI-744545,EBI-10981970
KRTAP10-11P604123EBI-744545,EBI-10217483
KRTAP10-8P604109EBI-744545,EBI-10171774
KRTAP10-9P604117EBI-744545,EBI-10172052
KRTAP12-3P603284EBI-744545,EBI-11953334
KRTAP4-11Q9BYQ63EBI-744545,EBI-10302392
KRTAP4-12Q9BQ668EBI-744545,EBI-739863
KRTAP4-7Q9BYR03EBI-744545,EBI-10302547
KRTAP5-6Q6L8G93EBI-744545,EBI-10250562
KRTAP5-9P263717EBI-744545,EBI-3958099
KRTAP9-2Q9BYQ49EBI-744545,EBI-1044640
KRTAP9-3Q9BYQ34EBI-744545,EBI-1043191
KRTAP9-4Q9BYQ23EBI-744545,EBI-10185730
MDFIQ997503EBI-744545,EBI-724076
MTUS2Q5JR593EBI-744545,EBI-742948
NOTCH2NLQ7Z3S95EBI-744545,EBI-945833
PLSCR1O151623EBI-744545,EBI-740019
PLSCR3Q9NRY65EBI-744545,EBI-750734
RFX6Q8HWS35EBI-744545,EBI-746118
RGS20O760814EBI-744545,EBI-1052678
RIMBP3Q9UFD93EBI-744545,EBI-10182375
SCRG1O757113EBI-744545,EBI-10189029
SPRY2O435973EBI-744545,EBI-742487
TRAF2Q129333EBI-744545,EBI-355744
TRIP6Q156546EBI-744545,EBI-742327

Protein-protein interaction databases

BioGridi125556. 35 interactors.
IntActiQ8NEC5. 71 interactors.
MINTiMINT-1453027.
STRINGi9606.ENSP00000309052.

Structurei

3D structure databases

ProteinModelPortaliQ8NEC5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi26 – 315His-richAdd BLAST290

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2302. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128247.
HOGENOMiHOG000112051.
HOVERGENiHBG098336.
InParanoidiQ8NEC5.
KOiK16889.
OMAiVCLNTIM.
OrthoDBiEOG091G0KAS.
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:SF216. PTHR10037:SF216. 3 hits.
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)DescriptionActionsGraphical viewLength
Sequence conflicti88G → V in AAH32950 (PubMed:16554811).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033304133G → S.Corresponds to variant rs1203998dbSNPEnsembl.1
Natural variantiVAR_033305652V → I.2 PublicationsCorresponds to variant rs3814747dbSNPEnsembl.1
Natural variantiVAR_033306730T → P.Corresponds to variant rs34958219dbSNPEnsembl.1

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.

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125556. 35 interactors.
IntActiQ8NEC5. 71 interactors.
MINTiMINT-1453027.
STRINGi9606.ENSP00000309052.

Chemistry databases

GuidetoPHARMACOLOGYi388.

Protein family/group databases

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

PTM databases

iPTMnetiQ8NEC5.
PhosphoSitePlusiQ8NEC5.

Polymorphism and mutation databases

BioMutaiCATSPER1.
DMDMi296439381.

Proteomic databases

PaxDbiQ8NEC5.
PeptideAtlasiQ8NEC5.
PRIDEiQ8NEC5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi117144.
DisGeNETi117144.
GeneCardsiCATSPER1.
GeneReviewsiCATSPER1.
H-InvDBHIX0201680.
HGNCiHGNC:17116. CATSPER1.
MalaCardsiCATSPER1.
MIMi606389. gene.
612997. phenotype.
neXtProtiNX_Q8NEC5.
OpenTargetsiENSG00000175294.
Orphaneti276234. Non-syndromic male infertility due to sperm motility disorder.
PharmGKBiPA38438.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2302. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128247.
HOGENOMiHOG000112051.
HOVERGENiHBG098336.
InParanoidiQ8NEC5.
KOiK16889.
OMAiVCLNTIM.
OrthoDBiEOG091G0KAS.
PhylomeDBiQ8NEC5.
TreeFamiTF329330.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175294-MONOMER.
ReactomeiR-HSA-1300642. Sperm Motility And Taxes.

Miscellaneous databases

GeneWikiiCatSper1.
GenomeRNAii117144.
PROiQ8NEC5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175294.
CleanExiHS_CATSPER1.
GenevisibleiQ8NEC5. HS.

Family and domain databases

Gene3Di1.20.120.350. 1 hit.
InterProiIPR028746. CatSper1.
IPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
[Graphical view]
PANTHERiPTHR10037:SF216. PTHR10037:SF216. 3 hits.
PfamiPF00520. Ion_trans. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 125 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

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 one 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.