KCNU1 (potassium calcium-activated channel subfamily U member 1)

2014-08-01  

Identity

HGNC
LOCATION
8p11.23
LOCUSID
ALIAS
KCNMC1,KCa5,KCa5.1,Kcnma3,Slo3
FUSION GENES

Other Information

Locus ID:

NCBI: 157855
MIM: 615215
HGNC: 18867
Ensembl: ENSG00000215262

Variants:

dbSNP: 157855
ClinVar: 157855
TCGA: ENSG00000215262
COSMIC: KCNU1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000215262ENST00000399881A8MYU2
ENSG00000215262ENST00000518904E5RK72
ENSG00000215262ENST00000522372E5RHP1
ENSG00000215262ENST00000522417E5RJA6
ENSG00000215262ENST00000523973E5RGP7

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Insulin secretionKEGGhsa04911
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
ReproductionREACTOMER-HSA-1474165
FertilizationREACTOMER-HSA-1187000
Sperm Motility And TaxesREACTOMER-HSA-1300642

References

Pubmed IDYearTitleCitations
349801362022Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.9
355513872022Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility.4
349801362022Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.9
355513872022Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility.4
283775042017A genetic variant of the sperm-specific SLO3 K(+) channel has altered pH and Ca(2+) sensitivities.23
283775042017A genetic variant of the sperm-specific SLO3 K(+) channel has altered pH and Ca(2+) sensitivities.23
246709552014The Ca2+-activated K+ current of human sperm is mediated by Slo3.60
246709552014The Ca2+-activated K+ current of human sperm is mediated by Slo3.60
231296432012Functional and structural analysis of the human SLO3 pH- and voltage-gated K+ channel.34
231296432012Functional and structural analysis of the human SLO3 pH- and voltage-gated K+ channel.34
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

KCNU1 (potassium calcium-activated channel subfamily U member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54399/js/lib/favicon/gene-fusions-explorer/