KCNMA1 - potassium calcium-activated channel subfamily M alpha 1 Gene

Homo sapiens

Also known as SLO; BKTM; SLO1; hSlo; IEG16; LIWAS; MaxiK; PNKD3; SAKCA; mSLO1; CADEDS; KCa1.1; SLO-ALPHA; bA205K10.1

Gene ID: 3778 | Gene type: protein coding

About KCNMA1

Cytogenetic location: 10q22.3 Genomic coordinates (GRCh38): 10:76,869,602-77,637,808 (from NCBI)

This gene has 94 transcripts (splice variants), 296 orthologues, 3 paralogues and is associated with 8 phenotypes. Broad expression in endometrium (RPKM 7.1), brain (RPKM 4.7) and 17 other tissues.

Summary

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]

KCNMA1 Products(18)

mRNA	Protein	Name
NM_001014797.3	NP_001014797.1	Calcium-activated potassium channel subunit alpha-1 isoform a
NM_001161352.2	NP_001154824.1	Calcium-activated potassium channel subunit alpha-1 isoform c
NM_001161353.2	NP_001154825.1	Calcium-activated potassium channel subunit alpha-1 isoform d
NM_001271518.2	NP_001258447.1	Calcium-activated potassium channel subunit alpha-1 isoform e
NM_001271519.2	NP_001258448.1	Calcium-activated potassium channel subunit alpha-1 isoform f
NM_001271520.2	NP_001258449.1	Calcium-activated potassium channel subunit alpha-1 isoform short1
NM_001271521.2	NP_001258450.1	Calcium-activated potassium channel subunit alpha-1 isoform short2
NM_001271522.2	NP_001258451.1	Calcium-activated potassium channel subunit alpha-1 isoform short3
NM_001322829.2	NP_001309758.1	Calcium-activated potassium channel subunit alpha-1 isoform g
NM_001322830.2	NP_001309759.1	Calcium-activated potassium channel subunit alpha-1 isoform h
NM_001322832.2	NP_001309761.1	Calcium-activated potassium channel subunit alpha-1 isoform i
NM_001322835.2	NP_001309764.1	Calcium-activated potassium channel subunit alpha-1 isoform j
NM_001322836.2	NP_001309765.1	Calcium-activated potassium channel subunit alpha-1 isoform k
NM_001322837.2	NP_001309766.1	Calcium-activated potassium channel subunit alpha-1 isoform l
NM_001322838.2	NP_001309767.1	Calcium-activated potassium channel subunit alpha-1 isoform m
NM_001322839.2	NP_001309768.1	Calcium-activated potassium channel subunit alpha-1 isoform short4
NM_001410940.1	NP_001397869.1	Calcium-activated potassium channel subunit alpha-1 isoform n
NM_002247.4	NP_002238.2	Calcium-activated potassium channel subunit alpha-1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin binding	IDA IDA: Inferred from direct assay	15703204	GOA
enables calcium-activated potassium channel activity	IDA IDA: Inferred from direct assay	7573516	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20574420	GOA
enables large conductance calcium-activated potassium channel activity	IDA IDA: Inferred from direct assay	7993625	GOA
enables large conductance calcium-activated potassium channel activity	IMP IMP: Inferred from mutant phenotype	15703204	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10692449	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	7877450	GOA
enables voltage-gated potassium channel activity	IMP IMP: Inferred from mutant phenotype	29330545	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular potassium ion homeostasis	IDA IDA: Inferred from direct assay	11245614	GOA
involved in micturition	IDA IDA: Inferred from direct assay	11641143	GOA
involved in negative regulation of cell volume	IDA IDA: Inferred from direct assay	12388065	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	11245614	GOA
involved in potassium ion transport	IDA IDA: Inferred from direct assay	7573516	GOA
involved in regulation of membrane potential	IDA IDA: Inferred from direct assay	7877450	GOA
involved in response to calcium ion	IDA IDA: Inferred from direct assay	12388065	GOA
involved in response to carbon monoxide	IDA IDA: Inferred from direct assay	15528406	GOA
involved in response to carbon monoxide	IMP IMP: Inferred from mutant phenotype	18180950	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	15528406	GOA
involved in response to osmotic stress	IDA IDA: Inferred from direct assay	10840032	GOA
involved in smooth muscle contraction involved in micturition	IDA IDA: Inferred from direct assay	11641143	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	10840032	GOA
located in caveola	IDA IDA: Inferred from direct assay	15703204	GOA
located in membrane	IDA IDA: Inferred from direct assay	7573516	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	7573516	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNMA1 Protein Structure

Ion_trans

TrkA_N

BK_channel_a

0
200
400
600
800
1000
1236 a.a.

Protein Preferred Names

Protein Names

Calcium-activated potassium channel subunit alpha-1

calcium-activated potassium channel subunit alpha-1

BK channel alpha subunit

KCNMA1 Protein-protein interaction Information

Type Cross	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	KCNMA1	Q12791	Asic1	Mus musculus	Q6NXK8-1	Anti Bait CoIP	18287010

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy

Generalized Epilepsy And Paroxysmal Dyskinesia	Gepd
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	PNKD3
Dyskinesia, Nonkinesigenic, Paroxysmal, Type 3, With/Without Generalized Epilepsy

Liang-Wang Syndrome

LIWAS

Cerebellar Atrophy, Developmental Delay, And Seizures

CADEDS

Neurodevelopmental Disorders

Epilepsy, Idiopathic Generalized 16

Epilepsy, Idiopathic Generalized, Susceptibility To, 16	EIG16
{Epilepsy, Idiopathic Generalized, Susceptibility To, 16}

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Paroxysmal Dyskinesia

Paroxysmal Choreoathetosis	Paroxysmal Dystonic Choreoathetosis
Paroxysmal Dyskinesias

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Impotence

Erectile Dysfunction	Sexual Impotence
Erectile Dysfunction Adverse Event

Functional Colonic Disease

Colonic Diseases, Functional

Necrotizing Fasciitis

Fasciitis, Necrotizing

Colonic Pseudo-Obstruction

Primary Chronic Pseudo-Obstruction Of Colon

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Hypertension, Diastolic

Hypertension, Diastolic, Resistance To

Diastolic Hypertension

Lymph Node Carcinoma

Lymph Node Cancer	Lymph Node Neoplasm
Neoplasm Of Lymph Node

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Dyskeratosis Congenita, Autosomal Dominant 1

DKCA1	Dyskeratosis Congenita, Scoggins Type
Autosomal Dominant Dyskeratosis Congenita 1	Dyskeratosis Congenita, Autosomal Dominant, Type 1
Dyskeratosis Congenita, Autosomal Dominant

Urethral Syndrome

Urethral Disease	Urethral Diseases
Urethra Disease	Abnormality Of The Urethra
Urethral Disorders

Transient Refractive Change

Narcolepsy

Paroxysmal Sleep	Gelineau Syndrome
Narcoleptic Syndrome	Narcolepsy-Cataplexy Syndrome
Cataplexy And Narcolepsy	Narcolepsy, Without Cataplexy
Gelineau'S Syndrome	Narcolepsy With Or Without Cataplexy
Narcolepsy Nos

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle	Autosomal Dominant Sleep-Related Hypermotor Epilepsy
Enfl	Benign Familial Infantile Seizures 6
Benign Familial Infantile Seizures, 6	Nocturnal Frontal Lobe Epilepsy-4
Enfl1	Epilepsy, Nocturnal Frontal Lobe, 1
Epilepsy, Nocturnal Frontal Lobe, Type 1

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures	Bfie
Benign Familial Infantile Convulsion	Bfic
Bfis	Benign Familial Infantile Convulsions
Familial Benign Neonatal Epilepsy	Watanabe-Vigevano Syndrome

Hypokalemic Periodic Paralysis, Type 1

Hypokalemic Periodic Paralysis	Hokpp
Hypopp	Westphall Disease
HOKPP1	Familial Hypokalemic Periodic Paralysis
Familial Periodic Paralysis	Westphal Disease
Hypokalemic Periodic Paralysis Type 1	Hypokalemic Familial Periodic Paralysis
Periodic Hypokalemic Paralysis	Periodic Paralysis I
Hypokpp	Primary Hypokalemic Periodic Paralysis
Periodic Paralysis Hypokalemic 1	Paralysis, Hypokalemic, Periodic
Paralysis, Hypokalemic, Periodic, Type 1

Movement Disease

Movement Disorders

Movement Disorder

Bartter Disease

Bartter Syndrome	Bartter'S Syndrome
Aldosteronism With Hyperplasia Of The Adrenal Cortex	Hypokalemic Alkalosis With Hypercalciuria
Potassium Wasting	Juxtaglomerular Hyperplasia With Secondary Aldosteronism
Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria	Salt-Losing Tubular Disorder, Henle'S Loop Type
Salt-Wasting Tubulopathy, Henle'S Loop Type	Bartters Syndrome

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect Pre-designed Sets	Purity	Rare Diseases Unkown
HY-RS07164	KCNMA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KCNMA1	VGNC	VGNC:42281
Felis catus	KCNMA1	VGNC	VGNC:67924
Bos taurus	KCNMA1	VGNC	VGNC:30479
Rattus norvegicus	KCNMA1	RGD	RGD:620715
Macaca mulatta	KCNMA1	VGNC	VGNC:73998
Mus musculus	KCNMA1	MGD	MGI:99923