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

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

中文名称:钾钙激活通道亚家族 M alpha 1

种属: Homo sapiens

同用名: SLO; BKTM; SLO1; hSlo; IEG16; LIWAS; MaxiK; PNKD3; SAKCA; mSLO1; CADEDS; KCa1.1; SLO-ALPHA; bA205K10.1

基因 ID: 3778 | 基因类型: protein coding

关于 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.

功能概要

该基因编码钙激活 BK 通道的 α 亚基。编码的蛋白质参与多种生理过程,包括平滑肌收缩、神经递质释放和神经元兴奋性。该基因的突变与一系列神经系统疾病有关,包括阵发性非运动诱发性运动障碍 3、特发性全身性癫痫 16 和 Liang-Wang 综合征。[RefSeq 提供,2022 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin binding IDA
IDA: 通过直接分析推断
15703204 GOA
enables calcium-activated potassium channel activity IDA
IDA: 通过直接分析推断
7573516 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
20574420 GOA
enables large conductance calcium-activated potassium channel activity IDA
IDA: 通过直接分析推断
7993625 GOA
enables large conductance calcium-activated potassium channel activity IMP
IMP: 通过突变表型推断
15703204 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10692449 GOA
enables voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
7877450 GOA
enables voltage-gated potassium channel activity IMP
IMP: 通过突变表型推断
29330545 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular potassium ion homeostasis IDA
IDA: 通过直接分析推断
11245614 GOA
involved in micturition IDA
IDA: 通过直接分析推断
11641143 GOA
involved in negative regulation of cell volume IDA
IDA: 通过直接分析推断
12388065 GOA
involved in positive regulation of apoptotic process IMP
IMP: 通过突变表型推断
11245614 GOA
involved in potassium ion transport IDA
IDA: 通过直接分析推断
7573516 GOA
involved in regulation of membrane potential IDA
IDA: 通过直接分析推断
7877450 GOA
involved in response to calcium ion IDA
IDA: 通过直接分析推断
12388065 GOA
involved in response to carbon monoxide IDA
IDA: 通过直接分析推断
15528406 GOA
involved in response to carbon monoxide IMP
IMP: 通过突变表型推断
18180950 GOA
involved in response to hypoxia IDA
IDA: 通过直接分析推断
15528406 GOA
involved in response to osmotic stress IDA
IDA: 通过直接分析推断
10840032 GOA
involved in smooth muscle contraction involved in micturition IDA
IDA: 通过直接分析推断
11641143 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
10840032 GOA
located in caveola IDA
IDA: 通过直接分析推断
15703204 GOA
located in membrane IDA
IDA: 通过直接分析推断
7573516 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
7573516 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KCNMA1 蛋白结构

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)

  • 0
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  • 800
  • 1000
  • 1236 a.a.
蛋白主名 其他名称

Calcium-activated potassium channel subunit alpha-1

calcium-activated potassium channel subunit alpha-1

BK channel alpha subunit

KCNMA1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
KCNMA1 Q12791 Asic1 Mus musculus Q6NXK8-1 18287010
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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