CATSPER1 (cation channel sperm associated 1)

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
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
18
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606389 17116 ENSG00000175294
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Sperm Motility And Taxes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spermatogenic failure 7 Pathogenic; Likely pathogenic rs193929390, rs193929391, rs374112491 RCV000004650
RCV000004651
RCV003388256
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CATSPER1-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance rs575875557, rs142855965, rs141376441, rs570606904, rs79062509, rs1305015426, rs531856996, rs138438242, rs139889481, rs149821768 RCV003930293
RCV003979439
RCV003979443
RCV003964029
RCV004757990
RCV003936811
RCV003938453
RCV003973069
RCV003906198
RCV003918678
Cervical cancer Uncertain significance rs145583697 RCV005913698
Male infertility Uncertain significance; Benign; Likely benign rs764701805, rs886048524, rs3841469, rs373771804 RCV000356048
RCV000348153
RCV000396395
RCV000333186
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 35248021
Cardiomyopathy Dilated Associate 26354096
Catsper1 Related Nonsyndromic Male Infertility Associate 26453676
Infertility Associate 26453676
Infertility Male Associate 30239785
Mast Cell Activation Disorders Associate 35610596
Oligospermia Associate 30239785, 35248021
Squamous Cell Carcinoma of Head and Neck Associate 35610596