Free for academic non-profit institutions. Other users need a Commercial license

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
  • SLO-BETA 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
  • 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 Response to elevated platelet cytosolic Ca2+ and Platelet homeostasis. 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

Regulatory Elements for KCNMB1 Gene

Enhancers for KCNMB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H170329 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.3 +55.9 55901 8 HDGF PKNOX1 ATF1 ARNT SIN3A YBX1 FEZF1 ETS1 ELK1 FOS LCP2 KCNMB1 LINC01366 GABRP CTD-2270F17.1 C5orf58 KCNIP1
GH05H170311 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +76.2 76181 4 HDAC1 CTCF PKNOX1 ATF1 ZMYM3 MAX EBF1 EED NFYB NFE2 LCP2 KCNMB1 KCNIP1 CTD-2270F17.1 LOC100128059 LINC01366
GH05H170300 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.7 +87.4 87389 3 CTCF ZNF175 MAX CEBPG ZNF766 ELK1 POLR2A SCRT2 ZNF584 SRF LCP2 KCNMB1 C5orf58 LOC100128059
GH05H170273 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +107.7 107659 17 HDGF PKNOX1 TCF12 ZNF143 ZNF207 ATF7 RUNX3 REST MBD2 SMARCA4 SLIT3 KCNMB1 CTD-2270F17.1 LCP2 C5orf58 GC05M170247
GH05H170387 0.9 Ensembl ENCODE 19.5 +0.6 634 2 SRF SMARCE1 ZNF687 ZMYM3 EBF1 DPF2 ZNF217 CTBP1 POLR2A IKZF1 KCNMB1 KCNIP1 LOC100128059 CTD-2270F17.1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNMB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNMB1 Gene

Chromosome:
5
Start:
170,374,671 bp from pter
End:
170,389,677 bp from pter
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

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
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.

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

CRISPR Products

miRNA for KCNMB1 Gene

miRTarBase miRNAs that target KCNMB1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KCNMB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8799178
GO:0007268 chemical synaptic transmission TAS 8799178
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 Antagonist, Pore Blocker, Target, inhibitor 3778
Procaine Approved, Investigational, Vet_approved Pharma Channel blocker, Target, binder 52
Trimebutine Approved Pharma Target, inhibitor Antimuscarinic 6
Verapamil Approved Pharma Channel blocker 130
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 71

(1) Additional Compounds for KCNMB1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNMB1 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCNMB1: view

Transcripts for KCNMB1 Gene

mRNA/cDNA for KCNMB1 Gene

Unigene Clusters for KCNMB1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KCNMB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia KCNMB1 33 34
  • 88.31 (n)
cow
(Bos Taurus)
Mammalia KCNMB1 33 34
  • 87.96 (n)
mouse
(Mus musculus)
Mammalia Kcnmb1 33 16 34
  • 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 CR855338.1 34
  • 29 (a)
ManyToMany
kcnmb2 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)

Paralogs for KCNMB1 Gene

Paralogs for KCNMB1 Gene

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

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 Sequence Context AA Info Type
rs11739136 other 170,383,792(+) CAGCT(C/T)CTCCT intron-variant, reference, missense
rs1000096729 -- 170,379,889(+) GGAGG(C/T)TGCAG intron-variant
rs1000279566 -- 170,385,879(+) CTTTC(A/G)GAGAC intron-variant
rs1000329384 -- 170,391,433(+) ACAAC(A/C)AAAAG intron-variant, upstream-variant-2KB
rs1000680260 -- 170,384,771(+) AGGGC(A/G)TGGAC 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)

Relevant External Links 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: OMIM and ClinVar

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

Relevant External Links for KCNMB1

Genetic Association Database (GAD)
KCNMB1
Human Genome Epidemiology (HuGE) Navigator
KCNMB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNMB1
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 60
  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 45 60
  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 45 60
  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 60
  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 45 60

Products for KCNMB1 Gene

Sources for KCNMB1 Gene

Content
Loading form....