CATSPER1
Cation channel sperm-associated protein 1
Also known as: CATSPER, CTSR1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NEC5
- Gene
- CATSPER1
- Ensembl
- ENSG00000175294
- Chromosome
- 11
- Canonical length
- 780 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Principal piece
OverviewNCBI Gene
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-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
780 residues, UniProt reviewed canonical sequence.
>Q8NEC5|CATSPER1
1 MDQNSVPEKA QNEADTNNAD RFFRSHSSPP HHRPGHSRAL HHYELHHHGV PHQRGESHHP
61 PEFQDFHDQA LSSHVHQSHH HSEARNHGRA HGPTGFGLAP SQGAVPSHRS YGEDYHDELQ
121 RDGRRHHDGS QYGGFHQQSD SHYHRGSHHG RPQYLGENLS HYSSGVPHHG EASHHGGSYL
181 PHGPNPYSES FHHSEASHLS GLQHDESQHH QVPHRGWPHH HQVHHHGRSR HHEAHQHGKS
241 PHHGETISPH SSVGSYQRGI SDYHSEYHQG DHHPSEYHHG DHPHHTQHHY HQTHRHRDYH
301 QHQDHHGAYH SSYLHGDYVQ STSQLSIPHT SRSLIHDAPG PAASRTGVFP YHVAHPRGSA
361 HSMTRSSSTI RSRVTQMSKK VHTQDISTKH SEDWGKEEGQ FQKRKTGRLQ RTRKKGHSTN
421 LFQWLWEKLT FLIQGFREMI RNLTQSLAFE TFIFFVVCLN TVMLVAQTFA EVEIRGEWYF
481 MALDSIFFCI YVVEALLKII ALGLSYFFDF WNNLDFFIMA MAVLDFLLMQ THSFAIYHQS
541 LFRILKVFKS LRALRAIRVL RRLSFLTSVQ EVTGTLGQSL PSIAAILILM FTCLFLFSAV
601 LRALFRKSDP KRFQNIFTTI FTLFTLLTLD DWSLIYMDSR AQGAWYIIPI LVIYIIIQYF
661 IFLNLVITVL VDSFQTALFK GLEKAKQERA ARIQEKLLED SLTELRAAEP KEVASEGTML
721 KRLIEKKFGT MTEKQQELLF HYLQLVASVE QEQQKFRSQA AVIDEIVDTT FEAGEEDFRNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CATSPER1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.57
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- testis: 17 nTPM
- blood vessel: 0.5 nTPM
- bone marrow: 0.4 nTPM
- lung: 0.4 nTPM
- skin: 0.3 nTPM
- appendix: 0.2 nTPM
Single-cell type
- mast cells: 47 nCPM
- early spermatids: 43 nCPM
- late primary spermatocytes: 37 nCPM
- platelets: 37 nCPM
- monocytes: 18 nCPM
- megakaryocytes: 12 nCPM
Immune cell
- basophil: 17 nTPM
- classical monocyte: 5.8 nTPM
- NK-cell: 3.7 nTPM
- myeloid DC: 2.4 nTPM
- total PBMC: 2.3 nTPM
- intermediate monocyte: 0.8 nTPM
Brain region
- cerebellum: 0.6 nTPM
- cerebral cortex: 0.4 nTPM
- choroid plexus: 0.3 nTPM
- basal ganglia: 0.2 nTPM
- hippocampal formation: 0.2 nTPM
- thalamus: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CATSPER1.
Disease | AllUniProt
Conditions CATSPER1 is implicated in, by any mechanism.
- Spermatogenic failure 7 (SPGF7) MIM:612997
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 222 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.99
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.65
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- calcium ion transport
- cell differentiation
- flagellated sperm motility
- regulation of cilium beat frequency involved in ciliary motility
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ion transport domain
- Voltage-dependent channel domain superfamily
- Ion transport protein
- Cation channel sperm-associated protein 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CATSPER1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CATSPER1 as an antibody target. Whether an autoantibody or antibody against CATSPER1 could matter depends on whether native CATSPER1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CATSPER1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CATSPER1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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