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Aliases for KCNMB1 Gene

Aliases for KCNMB1 Gene

  • Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 1 2 3 5
  • Potassium Large Conductance Calcium-Activated Channel, Subfamily M, Beta Member 1 2 3
  • Calcium-Activated Potassium Channel, Subfamily M Subunit Beta-1 3 4
  • Potassium Channel Subfamily M Regulatory Beta Subunit 1 2 3
  • Charybdotoxin Receptor Subunit Beta-1 3 4
  • Big Potassium Channel Beta Subunit 1 2 3
  • Maxi K Channel Subunit Beta-1 3 4
  • MaxiK Channel Beta-Subunit 1 2 3
  • BK Channel Beta Subunit 1 2 3
  • BK Channel Subunit Beta-1 3 4
  • K(VCA)Beta-1 3 4
  • Slo-Beta-1 3 4
  • BKbeta1 3 4
  • Hbeta1 3 4
  • Large Conductance Ca2+-Activated K+ Channel Beta 1 Subunit 3
  • Calcium-Activated Potassium Channel Subunit Beta-1 3
  • Calcium-Activated Potassium Channel Subunit Beta 4
  • K(VCA)Beta 3
  • Hslo-Beta 3
  • SLO-BETA 3
  • Slo-Beta 4
  • BKbeta 4

External Ids for KCNMB1 Gene

Previous GeneCards Identifiers for KCNMB1 Gene

  • GC05M170040
  • GC05M170508
  • GC05M169740
  • GC05M169786
  • GC05M169737
  • GC05M164904

Summaries for KCNMB1 Gene

Entrez Gene Summary for KCNMB1 Gene

  • 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]

GeneCards Summary for KCNMB1 Gene

KCNMB1 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 1) is a Protein Coding gene. Diseases associated with KCNMB1 include Hypertension, Diastolic. Among its related pathways are Aldosterone synthesis and secretion and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include potassium channel regulator activity and calcium-activated potassium channel activity. An important paralog of this gene is KCNMB2.

UniProtKB/Swiss-Prot for KCNMB1 Gene

  • Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate.

Tocris Summary for KCNMB1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNMB1 Gene

Additional gene information for KCNMB1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNMB1 Gene

Genomics for KCNMB1 Gene

GeneHancer (GH) Regulatory Elements for KCNMB1 Gene

Promoters and enhancers for KCNMB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J170387 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 657.3 +0.6 634 2.5 ZNF768 ZMYM3 EBF1 CTBP1 POLR2A EED IKZF2 RUNX3 SRF SMARCE1 KCNMB1 CTD-2270F17.1 KCNIP1 ENSG00000250274
GH05J170329 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.3 +55.9 55901 8.1 HDGF PKNOX1 SMAD1 ARNT YBX1 FEZF1 IRF4 E2F8 FOS MCM3 LCP2 KCNMB1 LINC01366 GABRP CTD-2270F17.1 C5orf58 KCNIP1
GH05J170291 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11 +94.5 94540 8 HDGF PKNOX1 SMAD1 RB1 STAT5A BATF RAD21 YY1 ZNF766 ZNF366 LCP2 KCNMB1 CTD-2270F17.1 C5orf58 GC05M170247
GH05J170311 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +76.2 76180 4.2 CTCF HDAC1 ATF1 PKNOX1 USF1 MAX ZMYM3 EBF1 EED NFYB ENSG00000250274 LCP2 KCNMB1 KCNIP1 CTD-2270F17.1 LINC01366
GH05J170273 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +107.7 107658 17.7 HDGF PKNOX1 IRF4 ZNF280A TCF12 ZNF207 ZNF143 ATF7 RUNX3 REST SLIT3 KCNMB1 CTD-2270F17.1 LCP2 C5orf58 GC05M170247
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNMB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNMB1 gene promoter:
  • MZF-1
  • SRF (504 AA)
  • SRF
  • AP-4
  • HSF2
  • Tal-1
  • E47
  • FOXL1
  • TBP
  • XBP-1

Genomic Locations for KCNMB1 Gene

Genomic Locations for KCNMB1 Gene
chr5:170,374,671-170,389,677
(GRCh38/hg38)
Size:
15,007 bases
Orientation:
Minus strand
chr5:169,801,675-169,816,681
(GRCh37/hg19)
Size:
15,007 bases
Orientation:
Minus strand

Genomic View for KCNMB1 Gene

Genes around KCNMB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNMB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNMB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNMB1 Gene

Proteins for KCNMB1 Gene

  • Protein details for KCNMB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16558-KCMB1_HUMAN
    Recommended name:
    Calcium-activated potassium channel subunit beta-1
    Protein Accession:
    Q16558
    Secondary Accessions:
    • O00707
    • O00708
    • P78475
    • Q53YR0
    • Q8TAX3
    • Q93005

    Protein attributes for KCNMB1 Gene

    Size:
    191 amino acids
    Molecular mass:
    21797 Da
    Quaternary structure:
    • Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB1 per KCNMA1 tetramer.

    Alternative splice isoforms for KCNMB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNMB1 Gene

Post-translational modifications for KCNMB1 Gene

Other Protein References for KCNMB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNMB1 Gene

Domains & Families for KCNMB1 Gene

Gene Families for KCNMB1 Gene

Protein Domains for KCNMB1 Gene

Suggested Antigen Peptide Sequences for KCNMB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16558

UniProtKB/Swiss-Prot:

KCMB1_HUMAN :
  • Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB1 subfamily.
Family:
  • Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB1 subfamily.
genes like me logo Genes that share domains with KCNMB1: view

Function for KCNMB1 Gene

Molecular function for KCNMB1 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate.
GENATLAS Biochemistry:
potassium non voltage gated large conductance calcium activated channel,subfamily M,Maxik,fundamental in the control of smooth muscle tone and neuronal excitability,subunit,modulatory beta member 1,expressed in smooth muscle tissues like small intestine,colon,uterus,aorta,see KCNMA1

Phenotypes From GWAS Catalog for KCNMB1 Gene

Gene Ontology (GO) - Molecular Function for KCNMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015269 calcium-activated potassium channel activity IBA --
GO:0015459 potassium channel regulator activity IBA --
genes like me logo Genes that share ontologies with KCNMB1: view
genes like me logo Genes that share phenotypes with KCNMB1: view

Animal Models for KCNMB1 Gene

MGI Knock Outs for KCNMB1:

Animal Model Products

miRNA for KCNMB1 Gene

miRTarBase miRNAs that target KCNMB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNMB1 Gene

Localization for KCNMB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNMB1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNMB1 gene
Compartment Confidence
plasma membrane 5
extracellular 3

Gene Ontology (GO) - Cellular Components for KCNMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNMB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNMB1 Gene

Pathways & Interactions for KCNMB1 Gene

genes like me logo Genes that share pathways with KCNMB1: view

Gene Ontology (GO) - Biological Process for KCNMB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005513 detection of calcium ion IBA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8799178
GO:0007268 chemical synaptic transmission TAS 8799178
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with KCNMB1: view

No data available for SIGNOR curated interactions for KCNMB1 Gene

Drugs & Compounds for KCNMB1 Gene

(11) Drugs for KCNMB1 Gene - From: DrugBank, PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Miconazole Approved, Investigational, Vet_approved Pharma Channel blocker, Antagonist, Pore Blocker, Target, inhibitor 3838
calcium Approved Nutra 0
Procaine Approved, Investigational, Vet_approved Pharma Channel blocker, Target, binder 60
Trimebutine Approved Pharma Target, inhibitor Antimuscarinic 7
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor 135

(4) Tocris Compounds for KCNMB1 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNMB1: view

Transcripts for KCNMB1 Gene

mRNA/cDNA for KCNMB1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(62) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNMB1 Gene

Potassium large conductance calcium-activated channel, subfamily M, beta member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNMB1 Gene

No ASD Table

Relevant External Links for KCNMB1 Gene

GeneLoc Exon Structure for
KCNMB1
ECgene alternative splicing isoforms for
KCNMB1

Expression for KCNMB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNMB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNMB1 Gene

This gene is overexpressed in Esophagus - Muscularis (x6.8), Esophagus - Gastroesophageal Junction (x6.6), Colon - Sigmoid (x5.8), and Artery - Tibial (x4.6).

Protein differential expression in normal tissues from HIPED for KCNMB1 Gene

This gene is overexpressed in Prostate (35.9), Uterus (12.4), Urinary Bladder (7.8), and Seminal vesicle (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNMB1 Gene



Protein tissue co-expression partners for KCNMB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNMB1 Gene:

KCNMB1

SOURCE GeneReport for Unigene cluster for KCNMB1 Gene:

Hs.484099

mRNA Expression by UniProt/SwissProt for KCNMB1 Gene:

Q16558-KCMB1_HUMAN
Tissue specificity: Abundantly expressed in smooth muscle. Low levels of expression in most other tissues. Within the brain, relatively high levels found in hippocampus and corpus callosum.

Evidence on tissue expression from TISSUES for KCNMB1 Gene

  • Muscle(4.5)
  • Nervous system(4.4)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with KCNMB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNMB1 Gene

Orthologs for KCNMB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNMB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNMB1 34 33
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KCNMB1 34 33
  • 88.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KCNMB1 34 33
  • 87.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnmb1 16 34 33
  • 84.47 (n)
rat
(Rattus norvegicus)
Mammalia Kcnmb1 33
  • 82.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNMB1 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNMB1 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNMB1 33
  • 58.99 (n)
CO6 34
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNMB1 34
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii kcnmb2 34
  • 29 (a)
ManyToMany
CR855338.1 34
  • 29 (a)
ManyToMany
Species where no ortholog for KCNMB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNMB1 Gene

ENSEMBL:
Gene Tree for KCNMB1 (if available)
TreeFam:
Gene Tree for KCNMB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNMB1: view image

Paralogs for KCNMB1 Gene

Paralogs for KCNMB1 Gene

(2) SIMAP similar genes for KCNMB1 Gene using alignment to 1 proteins:

  • KCMB1_HUMAN
genes like me logo Genes that share paralogs with KCNMB1: view

Variants for KCNMB1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KCNMB1 Gene

KCMB1_HUMAN-Q16558
Genetic variation in KCNMB1 can influence the severity of diastolic hypertension (PubMed:15057310).

Sequence variations from dbSNP and Humsavar for KCNMB1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs11739136 protective, Hypertension, diastolic, resistance to 170,383,792(-) C/T coding_sequence_variant, missense_variant
rs1000096729 -- 170,379,889(-) C/T intron_variant
rs1000279566 -- 170,385,879(-) G/A intron_variant
rs1000329384 -- 170,391,433(-) C/A upstream_transcript_variant
rs1000680260 -- 170,384,771(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNMB1 Gene

Variant ID Type Subtype PubMed ID
nsv462515 CNV loss 19166990
nsv471054 CNV loss 18288195
nsv600260 CNV loss 21841781

Variation tolerance for KCNMB1 Gene

Residual Variation Intolerance Score: 77.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.50; 82.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNMB1 Gene

Human Gene Mutation Database (HGMD)
KCNMB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNMB1

Disorders for KCNMB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNMB1 Gene - From: HGMD, OMIM, ClinVar, GTR, and GeneCards

Disorder Aliases PubMed IDs
hypertension, diastolic
  • hypertension, diastolic, resistance to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KCNMB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KCNMB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNMB1 Gene

Publications for KCNMB1 Gene

  1. Cloning, expression, and distribution of a Ca(2+)-activated K+ channel beta-subunit from human brain. (PMID: 8799178) Tseng-Crank J … Reinhart PH (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 22 58
  2. Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit. (PMID: 17496725) Gong Y … Johnson JA (Pharmacogenetics and genomics 2007) 3 22 44 58
  3. The BK channel beta1 subunit gene is associated with human baroreflex and blood pressure regulation. (PMID: 12011654) Gollasch M … Bähring S (Journal of hypertension 2002) 3 22 44 58
  4. Phenotypic alteration of a human BK (hSlo) channel by hSlobeta subunit coexpression: changes in blocker sensitivity, activation/relaxation and inactivation kinetics, and protein kinase A modulation. (PMID: 8764643) Dworetzky SI … Gribkoff VK (The Journal of neuroscience : the official journal of the Society for Neuroscience 1996) 3 4 22 58
  5. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K … Hosoya T (Nephron. Clinical practice 2010) 3 44 58

Products for KCNMB1 Gene

Sources for KCNMB1 Gene

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