Cation channel sperm-associated protein 1

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Q8NEC5 (CTSR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 89. History...

Clusters with 100%, 90%, 50% identity |

Documents (5) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Cation channel sperm-associated protein 1
Short name=CatSper1
Short name=hCatSper

Gene names

Name:

CATSPER1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	780 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.9 Ref.10
Subunit structure	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. Ref.6
Subcellular location	Cell projection › cilium › flagellum membrane; Multi-pass membrane protein. Note: Specifically located in the principal piece of sperm tail. Ref.5
Tissue specificity	Testis-specific. Ref.1 Ref.5 Ref.7
Developmental stage	Expressed meiotically and post-meiotically. Ref.5
Induction	Down-regulated in patients lacking sperm motility. Ref.4
Involvement in disease	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. Ref.8
Sequence similarities	Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. [View classification]

Ontologies

Keywords
Biological process	Calcium transport Differentiation Ion transport Spermatogenesis Transport
Cellular component	Cell membrane Cell projection Cilium Flagellum Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Calcium
Molecular function	Calcium channel Developmental protein Ion channel Voltage-gated channel
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW ciliary or flagellar motility Inferred from electronic annotation. Source: Compara fusion of sperm to egg plasma membrane Inferred from electronic annotation. Source: Compara multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW regulation of calcium ion transport Inferred from electronic annotation. Source: Compara sperm motility Inferred from electronic annotation. Source: Compara spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	CatSper complex Inferred from sequence or structural similarity. Source: UniProtKB cilium Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	voltage-gated calcium channel activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CACNA1I	Q9P0X4	5	EBI-744545,EBI-1220829

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 780

780

Cation channel sperm-associated protein 1

PRO_0000295674

Regions

Topological domain

1 – 445

445

Cytoplasmic Potential

Transmembrane

446 – 466

Helical; Name=Segment S1; Potential

Topological domain

467 – 485

Extracellular Potential

Transmembrane

486 – 506

Helical; Name=Segment S2; Potential

Topological domain

507 – 515

Cytoplasmic Potential

Transmembrane

516 – 536

Helical; Name=Segment S3; Potential

Topological domain

537 – 541

Extracellular Potential

Transmembrane

542 – 562

Helical; Name=Segment S4; Potential

Topological domain

563 – 579

Cytoplasmic Potential

Transmembrane

580 – 600

Helical; Name=Segment S5; Potential

Topological domain

601 – 615

Extracellular Potential

Intramembrane

616 – 636

Helical; Pore-forming; Potential

Topological domain

637 – 646

Extracellular Potential

Transmembrane

647 – 667

Helical; Name=Segment S6; Potential

Topological domain

668 – 780

113

Cytoplasmic Potential

Compositional bias

26 – 315

290

His-rich

Natural variations

Natural variant

133

G → S.
Corresponds to variant rs1203998 [ dbSNP | Ensembl ].

VAR_033304

Natural variant

652

V → I. Ref.1 Ref.3
Corresponds to variant rs3814747 [ dbSNP | Ensembl ].

VAR_033305

Natural variant

730

T → P.
Corresponds to variant rs34958219 [ dbSNP | Ensembl ].

VAR_033306

Experimental info

Sequence conflict

G → V in AAH32950. Ref.2

Sequences

Sequence

Length

Mass (Da)

Tools

Q8NEC5 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: E09C4339F8AF5044
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FASTA

780

90,091

        10         20         30         40         50         60 
MDQNSVPEKA QNEADTNNAD RFFRSHSSPP HHRPGHSRAL HHYELHHHGV PHQRGESHHP 

        70         80         90        100        110        120 
PEFQDFHDQA LSSHVHQSHH HSEARNHGRA HGPTGFGLAP SQGAVPSHRS YGEDYHDELQ 

       130        140        150        160        170        180 
RDGRRHHDGS QYGGFHQQSD SHYHRGSHHG RPQYLGENLS HYSSGVPHHG EASHHGGSYL 

       190        200        210        220        230        240 
PHGPNPYSES FHHSEASHLS GLQHDESQHH QVPHRGWPHH HQVHHHGRSR HHEAHQHGKS 

       250        260        270        280        290        300 
PHHGETISPH SSVGSYQRGI SDYHSEYHQG DHHPSEYHHG DHPHHTQHHY HQTHRHRDYH 

       310        320        330        340        350        360 
QHQDHHGAYH SSYLHGDYVQ STSQLSIPHT SRSLIHDAPG PAASRTGVFP YHVAHPRGSA 

       370        380        390        400        410        420 
HSMTRSSSTI RSRVTQMSKK VHTQDISTKH SEDWGKEEGQ FQKRKTGRLQ RTRKKGHSTN 

       430        440        450        460        470        480 
LFQWLWEKLT FLIQGFREMI RNLTQSLAFE TFIFFVVCLN TVMLVAQTFA EVEIRGEWYF 

       490        500        510        520        530        540 
MALDSIFFCI YVVEALLKII ALGLSYFFDF WNNLDFFIMA MAVLDFLLMQ THSFAIYHQS 

       550        560        570        580        590        600 
LFRILKVFKS LRALRAIRVL RRLSFLTSVQ EVTGTLGQSL PSIAAILILM FTCLFLFSAV 

       610        620        630        640        650        660 
LRALFRKSDP KRFQNIFTTI FTLFTLLTLD DWSLIYMDSR AQGAWYIIPI LVIYIIIQYF 

       670        680        690        700        710        720 
IFLNLVITVL VDSFQTALFK GLEKAKQERA ARIQEKLLED SLTELRAAEP KEVASEGTML 

       730        740        750        760        770        780 
KRLIEKKFGT MTEKQQELLF HYLQLVASVE QEQQKFRSQA AVIDEIVDTT FEAGEEDFRN

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] 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]	"Human male infertility caused by mutations in the CATSPER1 channel protein." Avenarius M.R., Hildebrand M.S., Zhang Y., Meyer N.C., Smith L.L.H., Kahrizi K., Najmabadi H., Smith R.J.H. Am. J. Hum. Genet. 84:505-510(2009) [PubMed] [Europe PMC] [Abstract] 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF407333 mRNA. Translation: AAL14105.1. AP006287 Genomic DNA. No translation available. BC032950 mRNA. Translation: AAH32950.1. BC036522 mRNA. Translation: AAH36522.1.
IPI	IPI00302313.
RefSeq	NP_444282.3. NM_053054.3.
UniGene	Hs.189105.
3D structure databases
ProteinModelPortal	Q8NEC5.
SMR	Q8NEC5. Positions 442-672.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NEC5. 8 interactions.
MINT	MINT-1453027.
STRING	9606.ENSP00000309052.
Protein family/group databases
TCDB	1.A.1.19.1. voltage-gated ion channel (VIC) superfamily.
PTM databases
PhosphoSite	Q8NEC5.
Polymorphism databases
DMDM	296439381.
Proteomic databases
PaxDb	Q8NEC5.
PRIDE	Q8NEC5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312106; ENSP00000309052; ENSG00000175294.
GeneID	117144.
KEGG	hsa:117144.
UCSC	uc001ogt.3. human.
Organism-specific databases
CTD	117144.
GeneCards	GC11M065784.
H-InvDB	HIX0201680.
HGNC	HGNC:17116. CATSPER1.
MIM	606389. gene. 612997. phenotype.
neXtProt	NX_Q8NEC5.
Orphanet	276234. CATSPER1-related non syndromic male infertility.
PharmGKB	PA38438.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG270165.
HOGENOM	HOG000112051.
HOVERGEN	HBG098336.
InParanoid	Q8NEC5.
OMA	EWYFMAL.
OrthoDB	EOG4TXBRD.
PhylomeDB	Q8NEC5.
Gene expression databases
Bgee	Q8NEC5.
CleanEx	HS_CATSPER1.
Genevestigator	Q8NEC5.
Family and domain databases
InterPro	IPR005821. Ion_trans_dom. [Graphical view]
Pfam	PF00520. Ion_trans. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL1628462.
GenomeRNAi	117144.
NextBio	80091.
SOURCE	Search...

Entry information

Entry name

CTSR1_HUMAN

Accession

Primary (citable) accession number: Q8NEC5
Secondary accession number(s): Q96P76

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 89 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.

Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents