Entity Details

Primary name KCMA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ12791
EntryNameKCMA1_HUMAN
FullNameCalcium-activated potassium channel subunit alpha-1
TaxID9606
Evidenceevidence at protein level
Length1236
SequenceStatuscomplete
DateCreated2004-04-13
DateModified2021-06-02

Ontological Relatives

GenesKCNMA1

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0003779 actin binding
GO:0005249 voltage-gated potassium channel activity
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0006813 potassium ion transport
GO:0006970 response to osmotic stress
GO:0008076 voltage-gated potassium channel complex
GO:0015269 calcium-activated potassium channel activity
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0030007 cellular potassium ion homeostasis
GO:0034465 response to carbon monoxide
GO:0042391 regulation of membrane potential
GO:0042802 identical protein binding
GO:0043065 positive regulation of apoptotic process
GO:0045211 postsynaptic membrane
GO:0045794 negative regulation of cell volume
GO:0046872 metal ion binding
GO:0051592 response to calcium ion
GO:0060072 large conductance calcium-activated potassium channel activity
GO:0060073 micturition
GO:0060083 smooth muscle contraction involved in micturition
GO:0060087 relaxation of vascular associated smooth muscle
GO:1901381 positive regulation of potassium ion transmembrane transport

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR003929 Calcium-activated potassium channel BK, alpha subunitDomainDomain
IPR005821 Ion transport domainDomainDomain
IPR024939 Calcium-activated potassium channel Slo-1FamilyFamily
IPR027359 Voltage-dependent channel domain superfamilyFamilyHomologous superfamily
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617643 OMIMCerebellar atrophy, developmental delay, and seizures (CADEDS)An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy. The disease is caused by variants affecting the gene represented in this entry.
609446 OMIMParoxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3)An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both. The disease is caused by variants affecting the gene represented in this entry.
618729 OMIMLiang-Wang syndrome (LIWAS)An autosomal dominant syndrome characterized by a highly variable phenotype and severity. The broad spectrum of clinical features includes developmental delay, intellectual disability, ataxia, axial hypotonia, and poor or absent speech, visceral and cardiac malformations, connective tissue presentations with arterial involvement, bone dysplasia and characteristic craniofacial dysmorphism. About half of patients have cerebral and cerebellar atrophy, and thin corpus callosum. The disease is caused by variants affecting the gene represented in this entry.
618596 OMIMEpilepsy, idiopathic generalized 16 (EIG16)An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG16 is characterized by onset of seizures soon after birth or in the first years of life. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00356 ChlorzoxazoneDrugbanksmall molecule
DB00436 BendroflumethiazideDrugbanksmall molecule
DB00721 ProcaineDrugbanksmall molecule
DB00774 HydroflumethiazideDrugbanksmall molecule
DB00999 HydrochlorothiazideDrugbanksmall molecule
DB01110 MiconazoleDrugbanksmall molecule
DB01119 DiazoxideDrugbanksmall molecule
DB01159 HalothaneDrugbanksmall molecule
DB04209 DequaliniumDrugbanksmall molecule
DB09089 TrimebutineDrugbanksmall molecule