ENSG00000175294


Homo sapiens

Features
Gene ID: ENSG00000175294
  
Biological name :CATSPER1
  
Synonyms : cation channel sperm associated 1 / CATSPER1 / Q8NEC5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q13.1
Gene start: 66016752
Gene end: 66026517
  
Corresponding Affymetrix probe sets: 1552335_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000309052
NCBI entrez gene - 117144     See in Manteia.
OMIM - 606389
RefSeq - NM_053054
RefSeq Peptide - NP_444282
swissprot - Q8NEC5
Ensembl - ENSG00000175294
  
Related genetic diseases (OMIM): 612997 - Spermatogenic failure 7, 612997
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q91ZR5ENSMUSG00000038498Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O00555 / CACNA1A / calcium voltage-gated channel subunit alpha1 AENSG0000014183723
Q15878 / CACNA1E / calcium voltage-gated channel subunit alpha1 EENSG0000019821622
Q00975 / CACNA1B / calcium voltage-gated channel subunit alpha1 BENSG0000014840821
Q13936 / CACNA1C / calcium voltage-gated channel subunit alpha1 CENSG0000015106720
Q13698 / CACNA1S / calcium voltage-gated channel subunit alpha1 SENSG0000008124819
O60840 / CACNA1F / calcium voltage-gated channel subunit alpha1 FENSG0000010200119
Q01668 / CACNA1D / calcium voltage-gated channel subunit alpha1 DENSG0000015738819
NALCN / Q8IZF0 / sodium leak channel, non-selectiveENSG0000010245213


Protein motifs (from Interpro)
Interpro ID Name
 IPR005821  Ion transport domain
 IPR028746  Cation channel sperm-associated protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030317 flagellated sperm motility IEA
 biological_processGO:0032570 response to progesterone TAS
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035036 sperm-egg recognition TAS
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086010 membrane depolarization during action potential IBA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031514 motile cilium IEA
 cellular_componentGO:0036128 CatSper complex ISS
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005227 calcium activated cation channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008331 high voltage-gated calcium channel activity IBA


Pathways (from Reactome)
Pathway description
Sperm Motility And Taxes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000798 Oligospermia 
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 HP:0003251 Male infertility 
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 HP:0012207 Reduced sperm motility "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson]
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 HP:0012208 Nonmotile sperm "A lack of mobility of ejaculated sperm." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000133962 Q9H7T0 / CATSPERB / cation channel sperm associated auxiliary subunit beta  / complex
 ENSG00000152705 Q86XQ3 / CATSPER3 / cation channel sperm associated 3  / complex
 ENSG00000174898 Q86XM0 / CATSPERD / cation channel sperm associated auxiliary subunit delta  / complex
 ENSG00000099338 Q6ZRH7 / CATSPERG / cation channel sperm associated auxiliary subunit gamma  / complex
 ENSG00000175294 Q8NEC5 / CATSPER1 / cation channel sperm associated 1  / complex
 ENSG00000166762 Q96P56 / CATSPER2 / cation channel sperm associated 2  / complex
 ENSG00000188782 Q7RTX7 / CATSPER4 / cation channel sperm associated 4  / complex






 

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