KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)

2007-06-01  

Identity

HGNC
KCNMA1
LOCATION
10q22.3
LOCUSID
3778
ALIAS
BKTM,CADEDS,IEG16,KCa1.1,LIWAS,MaxiK,PNKD3,SAKCA,SLO,SLO-ALPHA,SLO1,bA205K10.1,hSlo,mSLO1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3778
MIM: 600150
HGNC: 6284
Ensembl: ENSG00000156113

Variants:

dbSNP: 3778
ClinVar: 3778
TCGA: ENSG00000156113
COSMIC: KCNMA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156113ENST00000286627Q12791
ENSG00000156113ENST00000286628Q12791
ENSG00000156113ENST00000354353A0A0A0MRC3
ENSG00000156113ENST00000372403H0Y379
ENSG00000156113ENST00000372408Q5SVK0
ENSG00000156113ENST00000372421H0Y382
ENSG00000156113ENST00000372437Q5SVK5
ENSG00000156113ENST00000372440A0A0A0MRR0
ENSG00000156113ENST00000372443Q5SVJ7
ENSG00000156113ENST00000404771Q5SVJ8
ENSG00000156113ENST00000404857A0A0A0MSE6
ENSG00000156113ENST00000406533J3KQ16
ENSG00000156113ENST00000434208Q12791
ENSG00000156113ENST00000450795H0Y406
ENSG00000156113ENST00000457953Q5SVJ9
ENSG00000156113ENST00000475352A0A1W2PNN6
ENSG00000156113ENST00000480683Q12791
ENSG00000156113ENST00000481070S4R453
ENSG00000156113ENST00000484343A0A1W2PRF1
ENSG00000156113ENST00000604624S4R2X4
ENSG00000156113ENST00000618048A0A087WZL8
ENSG00000156113ENST00000626620Q12791
ENSG00000156113ENST00000637862A0A1B0GWD4
ENSG00000156113ENST00000638203A0A1W2PNW6
ENSG00000156113ENST00000638223A0A1W2PR56
ENSG00000156113ENST00000638249A0A1W2PRT6
ENSG00000156113ENST00000638252A0A1W2PQJ9
ENSG00000156113ENST00000638283A0A1W2PPS2
ENSG00000156113ENST00000638306A0A1W2PNQ3
ENSG00000156113ENST00000638351A0A1W2PNY9
ENSG00000156113ENST00000638506A0A1W2PSA7
ENSG00000156113ENST00000638514A0A1W2PQ93
ENSG00000156113ENST00000638531A0A1W2PP76
ENSG00000156113ENST00000638575Q12791
ENSG00000156113ENST00000638606A0A1W2PQA0
ENSG00000156113ENST00000638751A0A1W2PRC3
ENSG00000156113ENST00000638754A0A1W2PNY8
ENSG00000156113ENST00000638759Q12791
ENSG00000156113ENST00000638848A0A1W2PRN5
ENSG00000156113ENST00000638895A0A1W2PP06
ENSG00000156113ENST00000638991A0A1W2PNH9
ENSG00000156113ENST00000639090A0A1W2PPY5
ENSG00000156113ENST00000639120A0A1W2PQR1
ENSG00000156113ENST00000639205A0A1W2PS97
ENSG00000156113ENST00000639344A0A1W2PRE5
ENSG00000156113ENST00000639370A0A1W2PP26
ENSG00000156113ENST00000639406B7ZMF5
ENSG00000156113ENST00000639483A0A1W2PQZ8
ENSG00000156113ENST00000639486A0A1W2PQK5
ENSG00000156113ENST00000639489A0A1W2PQ61
ENSG00000156113ENST00000639498A0A1W2PRX6
ENSG00000156113ENST00000639544A0A1W2PR62
ENSG00000156113ENST00000639591A0A1W2PRV4
ENSG00000156113ENST00000639601A0A1W2PSD3
ENSG00000156113ENST00000639691A0A1W2PNN5
ENSG00000156113ENST00000639716A0A1W2PNX9
ENSG00000156113ENST00000639730A0A1W2PRJ1
ENSG00000156113ENST00000639823A0A1W2PNG1
ENSG00000156113ENST00000639913A0A1W2PRG5
ENSG00000156113ENST00000639968A0A1W2PPT7
ENSG00000156113ENST00000639995A0A1W2PQ39
ENSG00000156113ENST00000640029A0A1W2PPQ3
ENSG00000156113ENST00000640093A0A1W2PQZ4
ENSG00000156113ENST00000640141A0A1W2PP94
ENSG00000156113ENST00000640182A0A1W2PRB0
ENSG00000156113ENST00000640353A0A1W2PRA7
ENSG00000156113ENST00000640386A0A1W2PP37
ENSG00000156113ENST00000640523A0A1W2PPX7
ENSG00000156113ENST00000640605A0A1W2PPZ1
ENSG00000156113ENST00000640626A0A1W2PQ53
ENSG00000156113ENST00000640632A0A1W2PS54
ENSG00000156113ENST00000640773A0A1W2PNY7
ENSG00000156113ENST00000640807D5MRH1
ENSG00000156113ENST00000640834A0A1W2PQU4
ENSG00000156113ENST00000640934A0A1W2PPH9
ENSG00000156113ENST00000640969Q12791

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Insulin secretionKEGGhsa04911
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Ca2+ activated K+ channelsREACTOMER-HSA-1296052
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Nitric oxide stimulates guanylate cyclaseREACTOMER-HSA-392154
cGMP effectsREACTOMER-HSA-418457

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
370875782023[Peripheral blood KCNMA1 methylation level is associated with the occurrence and progression of lung cancer].0
377285762023Disease-associated KCNMA1 variants decrease circadian clock robustness in channelopathy mouse models.0
379586562023Down-Regulation of CYP3A4 by the K(Ca)1.1 Inhibition Is Responsible for Overcoming Resistance to Doxorubicin in Cancer Spheroid Models.1
370875782023[Peripheral blood KCNMA1 methylation level is associated with the occurrence and progression of lung cancer].0
377285762023Disease-associated KCNMA1 variants decrease circadian clock robustness in channelopathy mouse models.0
379586562023Down-Regulation of CYP3A4 by the K(Ca)1.1 Inhibition Is Responsible for Overcoming Resistance to Doxorubicin in Cancer Spheroid Models.1
351562972022Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.4
351562972022Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.4
332482022021Dynamical diversity of mitochondrial BK channels located in different cell types.2
336607972021Upregulation of KCNMA1 facilitates the reversal effect of verapamil on the chemoresistance to cisplatin of esophageal squamous cell carcinoma cells.4
339749282021Piezo1 and BK(Ca) channels in human atrial fibroblasts: Interplay and remodelling in atrial fibrillation.15
340354232021Single channel properties of mitochondrial large conductance potassium channel formed by BK-VEDEC splice variant.13
341818032021Ca(2+) -activated K(+) channel K(Ca) 1.1 as a therapeutic target to overcome chemoresistance in three-dimensional sarcoma spheroid models.9
344450662021TRPM2 Oxidation Activates Two Distinct Potassium Channels in Melanoma Cells through Intracellular Calcium Increase.29
344994172021Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.2

Citation

Dessen P

KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/47553/favicon/img/js/lib/zoomerang.js