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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3778

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

Ion_trans: Ion transport protein (217 - 384)

TrkA_N

TrkA_N: TrkA-N domain (457 - 534)

BK_channel_a

BK_channel_a: Calcium-activated BK potassium channel alpha subunit (537 - 634)

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  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
KCNMA1 Q12791 Asic1 Mus musculus Q6NXK8-1 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

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
Others KCNMA1 NCBI