• Gene id: 117144

Gene Summary

• Gene Symbol: CATSPER1   Gene   UCSC   Ensembl
• Aliases: CATSPER, SPGF7
• Gene name: cation channel sperm associated 1
• Alternate names: cation channel sperm-associated protein 1, hCatSper, sperm ion channel, sperm-associated cation channel 1,
• Gene location: 11q13.1 (66026517: 66016751)     Exons: 12     NC_000011.10
• Gene summary(Entrez): Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-s
• OMIM: 606389

SNPs

rs1893316

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66026326G>A
NC_000011.9   g.65793797G>A
NG_016285.1   g.5192C>T
NM_053054.4   c.54C>T
NM_053054.3   c.54C>T
XR_949785.2   n.192C>T
XR_949787.2   n.193C>T
XR_002957121.1   n.192C>T
XR_002957122.1   n.193C>T|SEQ=[G/A]|GENE=CATSPER1

Protein Summary

• Protein general information: Q8NEC5  
  • Name: Cation channel sperm associated protein 1 (CatSper1) (hCatSper)
  • Length: 780  
  • Mass: 90,091
• Sequence:

  MDQNSVPEKAQNEADTNNADRFFRSHSSPPHHRPGHSRALHHYELHHHGVPHQRGESHHPPEFQDFHDQALSSHV
  HQSHHHSEARNHGRAHGPTGFGLAPSQGAVPSHRSYGEDYHDELQRDGRRHHDGSQYGGFHQQSDSHYHRGSHHG
  RPQYLGENLSHYSSGVPHHGEASHHGGSYLPHGPNPYSESFHHSEASHLSGLQHDESQHHQVPHRGWPHHHQVHH
  HGRSRHHEAHQHGKSPHHGETISPHSSVGSYQRGISDYHSEYHQGDHHPSEYHHGDHPHHTQHHYHQTHRHRDYH
  QHQDHHGAYHSSYLHGDYVQSTSQLSIPHTSRSLIHDAPGPAASRTGVFPYHVAHPRGSAHSMTRSSSTIRSRVT
  QMSKKVHTQDISTKHSEDWGKEEGQFQKRKTGRLQRTRKKGHSTNLFQWLWEKLTFLIQGFREMIRNLTQSLAFE
  TFIFFVVCLNTVMLVAQTFAEVEIRGEWYFMALDSIFFCIYVVEALLKIIALGLSYFFDFWNNLDFFIMAMAVLD
  FLLMQTHSFAIYHQSLFRILKVFKSLRALRAIRVLRRLSFLTSVQEVTGTLGQSLPSIAAILILMFTCLFLFSAV
  LRALFRKSDPKRFQNIFTTIFTLFTLLTLDDWSLIYMDSRAQGAWYIIPILVIYIIIQYFIFLNLVITVLVDSFQ
  TALFKGLEKAKQERAARIQEKLLEDSLTELRAAEPKEVASEGTMLKRLIEKKFGTMTEKQQELLFHYLQLVASVE
  QEQQKFRSQAAVIDEIVDTTFEAGEEDFRN

• Structural information:
  • Interpro: IPR028746  IPR005821  IPR027359  
  • STRING: ENSP00000309052
• Other Databases: GeneCards:  CATSPER1  Malacards:  CATSPER1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005227	calcium activated cation channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IBA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0032570	response to progesterone	TAS	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0035036	sperm-egg recognition	TAS	biological process
GO:0036128	CatSper complex	ISS	cellular component
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005227	calcium activated cation channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0030317	flagellated sperm motility	IBA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0032570	response to progesterone	TAS	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0035036	sperm-egg recognition	TAS	biological process
GO:0036128	CatSper complex	IEA	cellular component
GO:0036128	CatSper complex	IEA	cellular component
GO:0036128	CatSper complex	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0060296	regulation of cilium beat frequency involved in ciliary motility	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030317	flagellated sperm motility	IBA	biological process
GO:0032570	response to progesterone	TAS	biological process
GO:0035036	sperm-egg recognition	TAS	biological process
GO:0036128	CatSper complex	ISS	cellular component
GO:0086010	membrane depolarization during action potential	IBA	biological process

Diseases

Associated diseases	References
Spermatogenesis defects	KEGG: H01282
Male factor infertility	MIK: 26453676
Asthenozoospermia	MIK: 21255775
Asthenozoospermia	MIK: 26354096
Male factor infertility	MIK: 19344877
Asthenozoospermia	MIK: 21404705
Male subfertility	MIK: 14688170
Spermatogenesis defects	MIK: 24690399
Asthenozoospermia	MIK: 21255775
Asthenozoospermia	MIK: 25983333
Impaired spermatogenesis	MIK: 24690399
Asthenozoospermia	MIK: 25983333
Deficient sperm motility	MIK: 14688170
Associated with progressive motility	MIK: 16625279
Asthenozoospermia	MIK: 24430778
Associated with hyperactivated motility needed late in the preparation of sperm for fertilization	MIK: 14657352
Severely impaired spermatogenesis	MIK: 24690399
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25983333	Male infertility, Asthenozoospermia			115 (85 normozoospermic, 30 asthenozoospermic)	Male infertility
14688170	Male subfertility				Male infertility
26453676	Male infertility			172 (134 IVF patients, 28 normozoospermic donors, 10 patients recalled due to a history of failed/low fertilization at IVF)	Male infertility
21255775	Asthenozoospermia	AKAP4 (c.887G>A -> p.Gly296Asn), CATSPER4 (c.247A>G -> p.Met83Val; c.157T>C -> p.Tyr53His; c.992G>A -> p.Gly331Asn), CATSPER1 (c.148G>A -> p.Val50Met), CATSPER3 (c.193T>C -> p.Phe65Leu), CATSPER2 (c.1289C>G -> p.Thr430Arg), PLA2G6 (c.187A>G -> p.Arg63Gly		30 men with isolated asthenozoospermia	Male infertility	ADCY10 AKAP4 CATSPER1 CATSPER2 CATSPER3 CATSPER4  GAPDHS PLA2G6 and SLC9A10
24690399	Male infertility, severely impaired spermatogenesis	Deletion in the 15q15.3 region		2 brothers suffering from male infertility	Male infertility
26354096	Idiopathic asthenospermia	rs1893316 in CATSPER1		480 (192 patients with idiopathic asthenospermia, 288 healthy controls)	Male infertility
19344877	Male infertility	CATSPER1 (c.539-540insT, c.948-949insATGGC, p.Lys180LysfsX8, p.Asp317MetfsX18)	Iranian		Male infertility	CATSPER1
21404705	Idiopathic asthenozoospermia				Male infertility	CatSper1
16625279	Assocaited with progressive motility			12 normozoospermic donors	Male infertility
14657352	Associated with hyperactivated motility needed late in the preparation of sperm for fertilization				Male infertility
26416967	Modulates sperm motility, Male infertility				Male infertility
24430778	Associated with human sperm progressive motility, asthenozoospermia				Male infertility
29700114	Male infertility				Male infertility
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)