KCNMB1 (potassium calcium-activated channel subfamily M regulatory beta subunit 1)

2003-08-01 Affiliation

Identity

HGNC

KCNMB1

LOCATION

5q35.1

LOCUSID

3779

ALIAS

BKbeta1,K(VCA)beta,SLO-BETA,hbeta1,hslo-beta,k(VCA)beta-1,slo-beta-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3779
MIM: 603951
HGNC: 6285
Ensembl: ENSG00000145936

Variants:

dbSNP: 3779
ClinVar: 3779
TCGA: ENSG00000145936
COSMIC: KCNMB1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000145936	ENST00000274629	Q16558
ENSG00000145936	ENST00000521859	Q16558

Expression (GTEx)

100

150

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

Pathway	Source	External ID
Vascular smooth muscle contraction	KEGG	hsa04270
Vascular smooth muscle contraction	KEGG	ko04270
Insulin secretion	KEGG	hsa04911
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
Neuronal System	REACTOME	R-HSA-112316
Potassium Channels	REACTOME	R-HSA-1296071
Ca2+ activated K+ channels	REACTOME	R-HSA-1296052
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Nitric oxide stimulates guanylate cyclase	REACTOME	R-HSA-392154
cGMP effects	REACTOME	R-HSA-418457

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA443796	Coronary Artery Disease	Disease	ClinicalAnnotation	associated	PD	17700361
PA444552	Hypertension	Disease	ClinicalAnnotation	associated	PD	17700361, 18496125, 18854753
PA451868	verapamil	Chemical	ClinicalAnnotation	associated	PD	17700361, 18496125, 18854753

References

Pubmed ID	Year	Title	Citations
31486669	2020	The Role of KCNMB1 and BK Channels in Myofibroblast Differentiation and Pulmonary Fibrosis.	18
31486669	2020	The Role of KCNMB1 and BK Channels in Myofibroblast Differentiation and Pulmonary Fibrosis.	18
29850792	2019	Downregulation of BK channel function and protein expression in coronary arteriolar smooth muscle cells of type 2 diabetic patients.	10
29850792	2019	Downregulation of BK channel function and protein expression in coronary arteriolar smooth muscle cells of type 2 diabetic patients.	10
28429615	2017	Regulation of vascular large-conductance calcium-activated potassium channels by Nrf2 signalling.	13
28750098	2017	The unique N-terminal sequence of the BKCa channel α-subunit determines its modulation by β-subunits.	2
28429615	2017	Regulation of vascular large-conductance calcium-activated potassium channels by Nrf2 signalling.	13
28750098	2017	The unique N-terminal sequence of the BKCa channel α-subunit determines its modulation by β-subunits.	2
27217576	2016	β1-subunit-induced structural rearrangements of the Ca2+- and voltage-activated K+ (BK) channel.	9
27217576	2016	β1-subunit-induced structural rearrangements of the Ca2+- and voltage-activated K+ (BK) channel.	9
25576871	2015	7-Ketocholesterol induces the reduction of KCNMB1 in atherosclerotic blood vessels.	1
25825713	2015	Molecular mechanism underlying β1 regulation in voltage- and calcium-activated potassium (BK) channels.	15
25576871	2015	7-Ketocholesterol induces the reduction of KCNMB1 in atherosclerotic blood vessels.	1
25825713	2015	Molecular mechanism underlying β1 regulation in voltage- and calcium-activated potassium (BK) channels.	15
24476761	2014	Bisphenol A activates BK channels through effects on α and β1 subunits.	5

Citation

Dessen P

KCNMB1 (potassium calcium-activated channel subfamily M regulatory beta subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/41050/case-report-explorer/meetings/