KCNMA1 Gene Summary [Human]
This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]
Details
| Type | Protein Coding |
| Official Symbol | KCNMA1 |
| Official Name | potassium calcium-activated channel subfamily M alpha 1 [Source:HGNC Symbol;Acc:HGNC:6284] |
| Ensembl ID | ENSG00000156113 |
| Bio databases IDs | |
| Aliases | potassium calcium-activated channel subfamily M alpha 1, BK channel alpha subunit, maxiK channel, big potassium channel alpha subunit |
| Synonyms | 5730414M22RIK, bA205K10.1, BK alpha, BKCA, BKCA alpha, BKCA α, BKTM, BK α, CADEDS, cbv1, hSlo, IEG16, KCa1.1, Kca channel alpha subunit, Kca channel α subunit, Kcnma, KCNMA1b, KCNMA1c, k(VCA)alpha, k(VCA)α, LIWAS, LOC142955, LOC498438, MaxiK, MAXIK CHANNEL, Maxi-K α, mSlo, mSLO1, PNKD3, potassium calcium-activated channel subfamily M alpha 1, potassium calcium-activated channel subfamily M α 1, potassium large conductance calcium-activated channel, subfamily M, alpha member 1, potassium large conductance calcium-activated channel, subfamily M, α member 1, SAC, SAKCA, SLO, SLO1, slo-alpha, slo-α |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KCNMA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- potassium channel
- voltage-gated potassium channel
- Calcium-activated BK potassium channel alpha subunit
- binding protein
- Ion transport protein
- actin binding
- calcium-activated potassium channel
- ligand-gated ion channel
- leucine zipper domain
- protein binding
- identical protein binding
- ion channel
Pathways
Biological processes and signaling networks where the KCNMA1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- COVID-19
- gait disturbance
- glioblastoma
- glioblastoma cancer
- smouldering mastocytosis
- myopia
- androgenic alopecia
- refractive error
- Liang-Wang syndrome
role in cell
- invasion by
- production in
- migration
- maturation
- differentiation
- apoptosis
- proliferation
- transmembrane potential
- activation
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- glutaminergic synapse
- Cytoplasm
- cell periphery
- apical compartment
- perinuclear region
- cellular membrane
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- sarcoplasm
- plasma membrane extracellular face
- apical membrane
- presynaptic membrane
- somatic membrane
- postsynaptic membrane
- caveolae
- perinuclear space
- neurofilaments
- neurites
- paranodes
- perikaryon
- axons
- dendrites
- axon terminals
- mossy fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNMA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transmembrane transport
- micturition
- response to osmotic stress
- vasodilation
- potassium ion transport
- cellular potassium ion homeostasis
- response to hypoxia
- regulation of membrane potential
- negative regulation of cell volume
- response to calcium ion
- positive regulation of apoptotic process
- smooth muscle contraction involved in micturition
- response to carbon monoxide
Cellular Component
Where in the cell the gene product is active
- caveola
- postsynaptic membrane
- voltage-gated potassium channel complex
- membrane
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- calcium-activated potassium channel activity
- voltage-gated potassium channel activity
- protein binding
- actin binding
- metal ion binding
- large conductance calcium-activated potassium channel activity