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
About KCNMA1
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 | Verweise | 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 |
| Cellular Component GO Annotation | Evidence | Verweise | 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 |
KCNMA1 Protein Structure
Ion_trans: Ion transport protein (217 - 384)
TrkA_N: TrkA-N domain (457 - 534)
BK_channel_a: Calcium-activated BK potassium channel alpha subunit (537 - 634)
- 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 |
|
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
|
| Liang-Wang Syndrome |
|
|
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
|
| Epilepsy, Idiopathic Generalized 16 |
|
|
| Non-Specific Syndromic Intellectual Disability |
|
|
| Paroxysmal Dyskinesia |
|
|
| Epilepsy |
|
|
| Impotence |
|
|
| Functional Colonic Disease |
|
|
| Necrotizing Fasciitis |
|
|
| Colonic Pseudo-Obstruction |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Hypertension, Diastolic |
|
|
| Lymph Node Carcinoma |
|
|
| Smith-Lemli-Opitz Syndrome |
|
|
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
|
| Urethral Syndrome |
|
|
| Transient Refractive Change |
|
|
| Narcolepsy |
|
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
|
| Benign Familial Infantile Epilepsy |
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
|
| Movement Disease |
|
|
| Bartter Disease |
|
|
| Alternating Hemiplegia Of Childhood |
|
|
| Episodic Ataxia |
|
|
| Hypertension, Essential |
|
|
| Childhood Absence Epilepsy |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
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 |