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Protein

Cation channel sperm-associated protein 1

Gene

CATSPER1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionCalcium channel, Developmental protein, Ion channel, Voltage-gated channel
Biological processCalcium transport, Differentiation, Ion transport, Spermatogenesis, Transport
LigandCalcium

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000175294.5
HGNCiHGNC:17116 CATSPER1
MIMi606389 gene
neXtProtiNX_Q8NEC5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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
GeneReviewsiCATSPER1
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
ProteomicsDBi73148

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

Show more details

Protein-protein interaction databases

BioGridi125556, 36 interactors
IntActiQ8NEC5, 103 interactors
MINTiQ8NEC5
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
InterProiView protein in InterPro
IPR028746 CatSper1
IPR005821 Ion_trans_dom
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF216 PTHR10037:SF216, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 1 hit

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 dbSNP:rs1203998EnsemblClinVar.1
Natural variantiVAR_033305652V → I2 PublicationsCorresponds to variant dbSNP:rs3814747EnsemblClinVar.1
Natural variantiVAR_033306730T → P. Corresponds to variant dbSNP:rs34958219Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiCTSR1_HUMAN
AccessioniPrimary (citable) accession number: Q8NEC5
Secondary accession number(s): Q96P76
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 137 of the entry and version 3 of the sequence. See 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

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