• Gene id: 3779

Gene Summary

• Gene Symbol: KCNMB1   Gene   UCSC   Ensembl
• Aliases: BKbeta1, K(VCA)beta, SLO-BETA, hbeta1, hslo-beta, k(VCA)beta-1, slo-beta-1
• Gene name: potassium calcium-activated channel subfamily M regulatory beta subunit 1
• Alternate names: calcium-activated potassium channel subunit beta-1, 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,
• Gene location: 5q35.1 (170389366: 170374670)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 603951

Protein Summary

• Protein general information: Q16558  
  • Name: Calcium activated potassium channel subunit beta 1 (BK channel subunit beta 1) (BKbeta) (BKbeta1) (Hbeta1) (Calcium activated potassium channel, subfamily M subunit beta 1) (Calcium activated potassium channel subunit beta) (Charybdotoxin receptor subunit
  • Length: 191  
  • Mass: 21797
  • 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.
• Sequence:

  MVKKLVMAQKRGETRALCLGVTMVVCAVITYYILVTTVLPLYQKSVWTQESKCHLIETNIRDQEELKGKKVPQYP
  CLWVNVSAAGRWAVLYHTEDTRDQNQQCSYIPGSVDNYQTARADVEKVRAKFQEQQVFYCFSAPRGNETSVLFQR
  LYGPQALLFSLFWPTFLLTGGLLIIAMVKSNQYLSILAAQK

• Structural information:
  • Interpro: IPR003930  
  • STRING: ENSP00000274629
• Other Databases: GeneCards:  KCNMB1  Malacards:  KCNMB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005513	detection of calcium ion	IBA	biological process
GO:0015459	potassium channel regulator activity	IBA	molecular function
GO:0015269	calcium-activated potassium channel activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0015269	calcium-activated potassium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015269	calcium-activated potassium channel activity	TAS	molecular function
GO:0015459	potassium channel regulator activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0097755	positive regulation of blood vessel diameter	IEA	biological process
GO:1901381	positive regulation of potassium ion transmembrane transport	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0071361	cellular response to ethanol	IEA	biological process
GO:1903413	cellular response to bile acid	IEA	biological process
GO:0015459	potassium channel regulator activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04911	Insulin secretion

Diseases

Associated diseases	References
Hypertension	PMID:16293791
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R