Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	117144
Gene name	Cation channel sperm associated 1
Gene symbol	CATSPER1
Synonyms (NCBI Gene)	CATSPERSPGF7
Chromosome	11
Chromosome location	11q13.1
Summary	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

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs193929390	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs193929391	->CCATG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments
MIRT2446225	hsa-miR-1184	CLIP-seq
MIRT2446226	hsa-miR-1205	CLIP-seq
MIRT2446227	hsa-miR-1538	CLIP-seq
MIRT2446228	hsa-miR-1909	CLIP-seq
MIRT2446229	hsa-miR-296-5p	CLIP-seq
MIRT2446230	hsa-miR-3144-5p	CLIP-seq
MIRT2446231	hsa-miR-3158-5p	CLIP-seq
MIRT2446232	hsa-miR-3191	CLIP-seq
MIRT2446233	hsa-miR-3194-3p	CLIP-seq
MIRT2446234	hsa-miR-338-3p	CLIP-seq
MIRT2446235	hsa-miR-3918	CLIP-seq
MIRT2446236	hsa-miR-4530	CLIP-seq
MIRT2446237	hsa-miR-4652-5p	CLIP-seq
MIRT2446238	hsa-miR-4667-5p	CLIP-seq
MIRT2446239	hsa-miR-4700-5p	CLIP-seq
MIRT2446240	hsa-miR-4745-3p	CLIP-seq
MIRT2446241	hsa-miR-637	CLIP-seq
MIRT2446242	hsa-miR-922	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005227	Function	Calcium-activated cation channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	14657352
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16740636, 21516116, 25416956, 25910212, 29892012, 31515488, 32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IBA
GO:0006816	Process	Calcium ion transport	IDA	14657352
GO:0006816	Process	Calcium ion transport	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0036126	Component	Sperm flagellum	IDA	16625279
GO:0036126	Component	Sperm flagellum	IEA
GO:0036128	Component	CatSper complex	IBA
GO:0036128	Component	CatSper complex	IEA
GO:0036128	Component	CatSper complex	ISS
GO:0042995	Component	Cell projection	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IBA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0097228	Component	Sperm principal piece	ISS

MIM	HGNC	e!Ensembl
606389	17116	ENSG00000175294

Q8NEC5

Protein name

Cation channel sperm-associated protein 1 (CatSper1) (hCatSper)

Protein function

Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome re

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	446 → 677	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:11595941, ECO:0000269|PubMed:16625279, ECO:0000269|PubMed:17347248}.

Sequence

MDQNSVPEKAQNEADTNNADRFFRSHSSPPHHRPGHSRALHHYELHHHGVPHQRGESHHP
PEFQDFHDQALSSHVHQSHHHSEARNHGRAHGPTGFGLAPSQGAVPSHRSYGEDYHDELQ
RDGRRHHDGSQYGGFHQQSDSHYHRGSHHGRPQYLGENLSHYSSGVPHHGEASHHGGSYL
PHGPNPYSESFHHSEASHLSGLQHDESQHHQVPHRGWPHHHQVHHHGRSRHHEAHQHGKS
PHHGETISPHSSVGSYQRGISDYHSEYHQGDHHPSEYHHGDHPHHTQHHYHQTHRHRDYH
QHQDHHGAYHSSYLHGDYVQSTSQLSIPHTSRSLIHDAPGPAASRTGVFPYHVAHPRGSA
HSMTRSSSTIRSRVTQMSKKVHTQDISTKHSEDWGKEEGQFQKRKTGRLQRTRKKGHSTN
LFQWLWEKLTFLIQGFREMIRNLTQSLAFETFIFFVVCLNTVMLVAQTFAEVEIRGEWYF
MALDSIFFCIYVVEALLKIIALGLSYFFDFWNNLDFFIMAMAVLDFLLMQTHSFAIYHQS
LFRILKVFKSLRALRAIRVLRRLSFLTSVQEVTGTLGQSLPSIAAILILMFTCLFLFSAV
LRALFRKSDPKRFQNIFTTIFTLFTLLTLDDWSLIYMDSRAQGAWYIIPILVIYIIIQYF
IFLNLVITVLVDSFQTALFKGLEKAKQERAARIQEKLLEDSLTELRAAEPKEVASEGTML
KRLIEKKFGTMTEKQQELLFHYLQLVASVEQEQQKFRSQAAVIDEIVDTTFEAGEEDFRN

Sequence length

780

Interactions

View interactions

	Reactome
			Sperm Motility And Taxes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 7	Pathogenic; Likely pathogenic	rs193929390, rs193929391, rs374112491	RCV000004650 RCV000004651 RCV003388256	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATSPER1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility	Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	BEFREE	26354096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	35248021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	26354096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	26453676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	30239785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spermatogenic Failure 7	Spermatogenic Failure	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic Failure 7	Spermatogenic Failure	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35610596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	31028847		★★★★★ ★☆☆☆☆ Found in Text Mining only

CATSPER1 (cation channel sperm associated 1)