CATSPER1 (cation channel sperm associated 1)

2016-10-01  

Identity

HGNC
LOCATION
11q13.1
LOCUSID
ALIAS
CATSPER,SPGF7
FUSION GENES

Other Information

Locus ID:

NCBI: 117144
MIM: 606389
HGNC: 17116
Ensembl: ENSG00000175294

Variants:

dbSNP: 117144
ClinVar: 117144
TCGA: ENSG00000175294
COSMIC: CATSPER1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175294ENST00000312106Q8NEC5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
ReproductionREACTOMER-HSA-1474165
FertilizationREACTOMER-HSA-1187000
Sperm Motility And TaxesREACTOMER-HSA-1300642

References

Pubmed IDYearTitleCitations
214123392011Progesterone activates the principal Ca2+ channel of human sperm.152
214123382011The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm.138
223540392012The CatSper channel: a polymodal chemosensor in human sperm.66
193448772009Human male infertility caused by mutations in the CATSPER1 channel protein.53
235301962013Disruption of the principal, progesterone-activated sperm Ca2+ channel in a CatSper2-deficient infertile patient.48
206480592010Genetic male infertility and mutation of CATSPER ion channels.41
233449592013Ca2+ signals generated by CatSper and Ca2+ stores regulate different behaviors in human sperm.33
285071192017Regulation of the sperm calcium channel CatSper by endogenous steroids and plant triterpenoids.23
264536762015Specific loss of CatSper function is sufficient to compromise fertilizing capacity of human spermatozoa.20
146881702004CatSper gene expression in postnatal development of mouse testis and in subfertile men with deficient sperm motility.19

Citation

Dessen P

CATSPER1 (cation channel sperm associated 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56291/catsper1