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

2014-08-01  

Identity

HGNC
KCNU1
LOCATION
8p11.23
LOCUSID
157855
ALIAS
KCNMC1,KCa5,KCa5.1,Kcnma3,Slo3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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/kcnu1-(potassium-calcium-activated-channel-subfamily-u-member-1)