Human Gene KCNMB1 (ENST00000274629.9_7) from GENCODE V47lift37
  Description: potassium calcium-activated channel subfamily M regulatory beta subunit 1 (from RefSeq NM_004137.4)
Gencode Transcript: ENST00000274629.9_7
Gencode Gene: ENSG00000145936.9_9
Transcript (Including UTRs)
   Position: hg19 chr5:169,801,675-169,816,371 Size: 14,697 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr5:169,805,708-169,812,451 Size: 6,744 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:169,801,675-169,816,371)mRNA (may differ from genome)Protein (191 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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Human Cortex Gene ExpressionMalacardsMGIOMIMPubMedReactome
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-  Comments and Description Text from UniProtKB
  ID: KCMB1_HUMAN
DESCRIPTION: RecName: Full=Calcium-activated potassium channel subunit beta-1; AltName: Full=BK channel subunit beta-1; Short=BKbeta; Short=BKbeta1; Short=Hbeta1; AltName: Full=Calcium-activated potassium channel, subfamily M subunit beta-1; Short=Calcium-activated potassium channel subunit beta; AltName: Full=Charybdotoxin receptor subunit beta-1; AltName: Full=K(VCA)beta-1; AltName: Full=Maxi K channel subunit beta-1; AltName: Full=Slo-beta-1; Short=Slo-beta;
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.
SUBUNIT: Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB1 per KCNMA1 tetramer.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
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.
PTM: N-glycosylated.
POLYMORPHISM: Genetic variation in KCNMB1 can influence the severity of diastolic hypertension.
SIMILARITY: Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB1 subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KCNMB1
Diseases sorted by gene-association score: hypertension, diastolic* (575)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 55.77 RPKM in Esophagus - Muscularis
Total median expression: 397.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.30133-0.363 Picture PostScript Text
3' UTR -1266.904033-0.314 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003930 - K_chnl_Ca-activ_BK_bsu

Pfam Domains:
PF03185 - Calcium-activated potassium channel, beta subunit

ModBase Predicted Comparative 3D Structure on Q16558
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015269 calcium-activated potassium channel activity
GO:0015459 potassium channel regulator activity

Biological Process:
GO:0005513 detection of calcium ion
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007268 chemical synaptic transmission
GO:0007568 aging
GO:0051592 response to calcium ion
GO:0071361 cellular response to ethanol
GO:0071456 cellular response to hypoxia
GO:0071805 potassium ion transmembrane transport
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:1903413 cellular response to bile acid

Cellular Component:
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  JD332292 - Sequence 313316 from Patent EP1572962.
JD175872 - Sequence 156896 from Patent EP1572962.
JD138277 - Sequence 119301 from Patent EP1572962.
JD445266 - Sequence 426290 from Patent EP1572962.
JD293997 - Sequence 275021 from Patent EP1572962.
JD481437 - Sequence 462461 from Patent EP1572962.
U25138 - Human MaxiK potassium channel beta subunit mRNA, complete cds.
U42600 - Human calcium-activated potassium channel beta subunit mRNA, complete cds.
U61536 - Human potassium channel beta subunit mRNA, complete cds.
JD230648 - Sequence 211672 from Patent EP1572962.
JD449233 - Sequence 430257 from Patent EP1572962.
JD308522 - Sequence 289546 from Patent EP1572962.
JD265218 - Sequence 246242 from Patent EP1572962.
JD179582 - Sequence 160606 from Patent EP1572962.
JD187873 - Sequence 168897 from Patent EP1572962.
AY515264 - Homo sapiens large conductance Ca2+-activated K+ channel beta 1 subunit (KCNMB1) mRNA, complete cds.
JD537606 - Sequence 518630 from Patent EP1572962.
JD322609 - Sequence 303633 from Patent EP1572962.
JD292683 - Sequence 273707 from Patent EP1572962.
AY044441 - Homo sapiens potassium large conductance calcium-activated channel (KCNMB1) mRNA, complete cds.
JD378056 - Sequence 359080 from Patent EP1572962.
JD101680 - Sequence 82704 from Patent EP1572962.
JD385905 - Sequence 366929 from Patent EP1572962.
JD385904 - Sequence 366928 from Patent EP1572962.
JD462487 - Sequence 443511 from Patent EP1572962.
AF026002 - Homo sapiens calcium-activated potassium channel beta subunit mRNA, complete cds.
U38907 - Human beta-subunit of BK channels mRNA, complete cds.
AK313979 - Homo sapiens cDNA, FLJ94629, Homo sapiens potassium large conductance calcium-activated channel,subfamily M, beta member 1 (KCNMB1), mRNA.
AB528668 - Synthetic construct DNA, clone: pF1KB6840, Homo sapiens KCNMB1 gene for potassium large conductance calcium-activated channel, subfamily M, beta member 1, without stop codon, in Flexi system.
BC025707 - Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1, mRNA (cDNA clone MGC:34483 IMAGE:5224514), complete cds.
KJ904492 - Synthetic construct Homo sapiens clone ccsbBroadEn_13886 KCNMB1 gene, encodes complete protein.
JD328355 - Sequence 309379 from Patent EP1572962.
JD544363 - Sequence 525387 from Patent EP1572962.
JD338376 - Sequence 319400 from Patent EP1572962.
JD408759 - Sequence 389783 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q16558 (Reactome details) participates in the following event(s):

R-HSA-418549 PKG1 phosphorylates BK channels
R-HSA-1296037 Activation of Ca2+ activated Potassium channels with large conductance
R-HSA-418457 cGMP effects
R-HSA-392154 Nitric oxide stimulates guanylate cyclase
R-HSA-1296052 Ca2+ activated K+ channels
R-HSA-418346 Platelet homeostasis
R-HSA-1296071 Potassium Channels
R-HSA-109582 Hemostasis
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000274629.1, ENST00000274629.2, ENST00000274629.3, ENST00000274629.4, ENST00000274629.5, ENST00000274629.6, ENST00000274629.7, ENST00000274629.8, KCMB1_HUMAN, NM_004137, O00707, O00708, P78475, Q16558, Q53YR0, Q8TAX3, Q93005, uc317jfx.1, uc317jfx.2
UCSC ID: ENST00000274629.9_7
RefSeq Accession: NM_004137.4
Protein: Q16558 (aka KCMB1_HUMAN or CKB1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.