KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNMB1provided by HGNC
Official Full Name: potassium calcium-activated channel subfamily M regulatory beta subunit 1provided by HGNC
Primary source: HGNC:HGNC:6285
See related: Ensembl:ENSG00000145936 MIM:603951; AllianceGenome:HGNC:6285
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hbeta1; BKbeta1; SLO-BETA; hslo-beta; K(VCA)beta; slo-beta-1; k(VCA)beta-1
Summary: MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]
Expression: Broad expression in endometrium (RPKM 43.3), prostate (RPKM 41.0) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (170374671..170389367, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (170913506..170928202, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (169801675..169816371, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

that epigenetic upregulation of KCNMB1 contributes to increased large-conductance (Big) potassium channel activity in idiopathic pulmonary fibrosis fibroblasts
Title: The Role of KCNMB1 and BK Channels in Myofibroblast Differentiation and Pulmonary Fibrosis.
Decreased protein expression and altered intrinsic properties of BKbeta1 channels mediates abnormal vasodilation in the coronary microvasculature of type 2 diabetics.
Title: Downregulation of BK channel function and protein expression in coronary arteriolar smooth muscle cells of type 2 diabetic patients.
Expression of vascular large-conductance calcium-activated potassium channel Kcnmb1 is regulated by Nrf2 signaling.
Title: Regulation of vascular large-conductance calcium-activated potassium channels by Nrf2 signalling.
These results provide further insights into the mechanism of modulation of the different N-terminal regions of the BKCa channel by beta-subunits.
Title: The unique N-terminal sequence of the BKCa channel α-subunit determines its modulation by β-subunits.
By introducing lanthanide binding tags in the extracellular region of the alpha- or beta1-subunit, we determined (i) a basic extracellular map of the BK channel, (ii) beta1-subunit-induced rearrangements of the voltage sensor in alpha-subunits, and (iii) the relative position of the beta1-subunit within the alpha/beta1-subunit complex.
Title: β1-subunit-induced structural rearrangements of the Ca2+- and voltage-activated K+ (BK) channel.
The study demonstrates that both transmembrane domains of BKbeta1 are required to provide the characteristic ion current phenotype of beta1-containing BK channels.
Title: Both transmembrane domains of BK β1 subunits are essential to confer the normal phenotype of β1-containing BK channels.
Data show that two lysine residues that are unique to the N terminus of calcium-activated potassium channel subunit beta-1 were identified to be sufficient for voltage-sensor modulation.
Title: Molecular mechanism underlying β1 regulation in voltage- and calcium-activated potassium (BK) channels.
To determine the relationship between atherosclerosis and KCNMB1, we studied some atherogenic factors affecting vascular tone. Blood of atherosclerotic patients shows increased concentration of 7-ketocholesterol, possibly a harmful lipid to blood vessels.
Title: 7-Ketocholesterol induces the reduction of KCNMB1 in atherosclerotic blood vessels.
Bisphenol A activates BK alpha via an extracellular site and that Bisphenol A-sensitivity is increased by the beta1 subunit.
Title: Bisphenol A activates BK channels through effects on α and β1 subunits.
N-terminal isoforms of the large-conductance Ca(2)-activated K channel are differentially modulated by the auxiliary beta1-subunit.
Title: N-terminal isoforms of the large-conductance Ca²⁺-activated K⁺ channel are differentially modulated by the auxiliary β1-subunit.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypertension, diastolic, resistance to MedGen: C1837739 OMIM: 608622 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79077 (e-PCR)
- UniSTS:15206

KCNMB1_3183 (e-PCR)
- UniSTS:462291

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-activated potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to bile acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in detection of calcium ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in vasodilation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: calcium-activated potassium channel subunit beta-1

Names: BK channel beta subunit 1; BK channel subunit beta-1; MaxiK channel beta-subunit 1; big potassium channel beta subunit 1; calcium-activated potassium channel, subfamily M subunit beta-1; charybdotoxin receptor subunit beta-1; large conductance Ca2+-activated K+ channel beta 1 subunit; maxi K channel subunit beta-1; potassium channel subfamily M regulatory beta subunit 1; potassium large conductance calcium-activated channel, subfamily M, beta member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.