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UniProtKB - Q12791 (KCMA1_HUMAN)

Entry version 206 (23 Feb 2022)
Sequence version 2 (13 Apr 2004)
Previous versions | rss
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Protein

Calcium-activated potassium channel subunit alpha-1

Gene

KCNMA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Potassium channel activated by both membrane depolarization or increase in cytosolic Ca2+ that mediates export of K+ (PubMed:29330545, PubMed:31152168).

It is also activated by the concentration of cytosolic Mg2+. Its activation dampens the excitatory events that elevate the cytosolic Ca2+ concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca2+, caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX).

2 Publications

Miscellaneous

The protein was initially thought to contain two functionally distinct parts: The core channel (from the N-terminus to the S9 segment) that mediates the channel activity, and the cytoplasmic tail (from the S9 segment to the C-terminus) that mediates the calcium sensing. The situation is however more complex, since the core channel also contains binding sites for Ca2+ and Mg2+.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Ethanol and carbon monoxide-bound heme increase channel activation. Heme inhibits channel activation.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi439MagnesiumBy similarity1
Metal bindingi462MagnesiumBy similarity1
Metal bindingi464MagnesiumBy similarity1
Metal bindingi1012Calcium; via carbonyl oxygen1
Metal bindingi1015Calcium; via carbonyl oxygen1
Metal bindingi1018Calcium1
Metal bindingi1020Calcium1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandCalcium, Magnesium, Metal-binding, Potassium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q12791

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1296052, Ca2+ activated K+ channels
R-HSA-418457, cGMP effects
R-HSA-9662360, Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9667769, Acetylcholine inhibits contraction of outer hair cells

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q12791

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q12791

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.1.3.10, the voltage-gated ion channel (vic) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Calcium-activated potassium channel subunit alpha-1
Alternative name(s):
BK channel
BKCA alpha
Calcium-activated potassium channel, subfamily M subunit alpha-1
K(VCA)alpha
KCa1.1
Maxi K channel
Short name:
MaxiK
Slo-alpha
Slo1
Slowpoke homolog
Short name:
Slo homolog
Short name:
hSlo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCNMA1Imported
Synonyms:KCNMA, SLO
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6284, KCNMA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600150, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q12791

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000156113

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 86ExtracellularSequence analysisAdd BLAST86
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei87 – 107Helical; Name=Segment S0Sequence analysisAdd BLAST21
Topological domaini108 – 178CytoplasmicSequence analysisAdd BLAST71
Transmembranei179 – 199Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini200 – 214ExtracellularSequence analysisAdd BLAST15
Transmembranei215 – 235Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini236 – 239CytoplasmicSequence analysis4
Transmembranei240 – 260Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini261 – 264ExtracellularSequence analysis4
Transmembranei265 – 285Helical; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini286 – 300CytoplasmicSequence analysisAdd BLAST15
Transmembranei301 – 321Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini322 – 335ExtracellularSequence analysisAdd BLAST14
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei336 – 358Pore-forming; Name=P regionSequence analysisAdd BLAST23
Topological domaini359 – 367ExtracellularSequence analysis9
Transmembranei368 – 388Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini389 – 1236CytoplasmicSequence analysisAdd BLAST848

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023821434D → G in PNKD3; may have a synergistic effect with ethanol in the triggering of symptoms. 1 PublicationCorresponds to variant dbSNP:rs137853333EnsemblClinVar.1
Natural variantiVAR_079156884E → K in PNKD3. 1 Publication1
Natural variantiVAR_0791571053N → S in PNKD3 and EIG16; increased sensitivity to voltage-dependent activation resulting in increased channel activity; no change in calcium sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs886039469EnsemblClinVar.1
Epilepsy, idiopathic generalized 16 (EIG16)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0791571053N → S in PNKD3 and EIG16; increased sensitivity to voltage-dependent activation resulting in increased channel activity; no change in calcium sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs886039469EnsemblClinVar.1
Cerebellar atrophy, developmental delay, and seizures (CADEDS)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083555458 – 1236Missing in CADEDS. 1 PublicationAdd BLAST779
Liang-Wang syndrome (LIWAS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083554375G → R in LIWAS; loss of voltage-gated potassium channel activity. 1 PublicationCorresponds to variant dbSNP:rs1554829003EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi118C → A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-119 and A-121. 2 Publications1
Mutagenesisi119C → A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-118 and A-121. 2 Publications1
Mutagenesisi121C → A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-119 and A-121. 2 Publications1
Mutagenesisi269L → R or H: No effect in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi272R → E: Induces reduction in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi275R → N: Induces reduction in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi278R → Q: Induces reduction in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi281Q → R: No effect in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi284E → K: No effect in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi352T → S: Activated at more negative voltages. Slower rate of inactivation. Impaired inhibition by HMIMP. No effect on channel inhibition by Iberiotoxin. 1 Publication1
Mutagenesisi354 – 356GYG → AAA: Loss of function. 1 Publication3
Mutagenesisi380F → A: Loss of function. 1 Publication1
Mutagenesisi381A → S: Activated at more negative voltages. No effect on inhibition by HMIMP. 1 Publication1
Mutagenesisi384V → I: No effect on activation voltage. No effect on inhibition by HMIMP. 1 Publication1
Mutagenesisi680C → S: Loss of heme-induced channel inhibition. 1 Publication1
Mutagenesisi681H → R: Loss of heme-induced channel inhibition. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		3778

MalaCards human disease database

More...MalaCardsi		KCNMA1
MIMi609446, phenotype
617643, phenotype
618596, phenotype
618729, phenotype

Open Targets

More...OpenTargetsi		ENSG00000156113

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		79137, Generalized epilepsy-paroxysmal dyskinesia syndrome
528084, Non-specific syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA220

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q12791, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4304

Drug and drug target database

More...DrugBanki		DB00436, Bendroflumethiazide
DB00356, Chlorzoxazone
DB04209, Dequalinium
DB01119, Diazoxide
DB01159, Halothane
DB00999, Hydrochlorothiazide
DB00774, Hydroflumethiazide
DB01110, Miconazole
DB00721, Procaine
DB09089, Trimebutine

DrugCentral

More...DrugCentrali		Q12791

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		380

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KCNMA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		46396283

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000541321 – 1236Calcium-activated potassium channel subunit alpha-1Add BLAST1236

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi118S-palmitoyl cysteine2 Publications1
Lipidationi119S-palmitoyl cysteine2 Publications1
Lipidationi121S-palmitoyl cysteine2 Publications1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei763PhosphothreonineBy similarity1
Modified residuei765PhosphoserineBy similarity1
Modified residuei778PhosphoserineBy similarity1
Modified residuei782PhosphoserineBy similarity1
Modified residuei970PhosphothreonineBy similarity1
Modified residuei978PhosphoserineBy similarity1
Modified residuei982PhosphoserineBy similarity1
Modified residuei1221PhosphoserineBy similarity1
Modified residuei1224PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles, phosphorylation affects its activity.Curated
Palmitoylation by ZDHHC22 and ZDHHC23 within the intracellular linker between the S0 and S1 transmembrane domains regulates localization to the plasma membrane. Depalmitoylated by LYPLA1 and LYPLAL1, leading to retard exit from the trans-Golgi network.2 Publications

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q12791

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q12791

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q12791

PeptideAtlas

More...PeptideAtlasi		Q12791

PRoteomics IDEntifications database

More...PRIDEi		Q12791

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		30456
58926 [Q12791-1]
58927 [Q12791-2]
58928 [Q12791-3]
58929 [Q12791-4]
58930 [Q12791-5]
58931 [Q12791-6]
58932 [Q12791-7]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1058, 1 N-Linked glycan (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q12791, 1 site, 1 N-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q12791

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q12791

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q12791

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q12791

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Except in myocytes, it is almost ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000156113, Expressed in parotid gland and 226 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q12791, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q12791, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000156113, Tissue enhanced (endometrium)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer; which constitutes the calcium-activated potassium channel.

Interacts with RAB11B (By similarity).

Interacts with beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4.

Interacts with gamma subunits LRRC26, LRRC38, LRRC52 and LRRC55. Beta and gamma subunits are accessory, and modulate its activity.

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109979, 19 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q12791

Database of interacting proteins

More...DIPi		DIP-29729N

Protein interaction database and analysis system

More...IntActi		Q12791, 5 interactors

Molecular INTeraction database

More...MINTi		Q12791

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000286628

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q12791

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q12791, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11236
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q12791

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q12791

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q12791

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini415 – 558RCK N-terminalAdd BLAST144

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 61DisorderedSequence analysisAdd BLAST61
Regioni556 – 576Segment S7Add BLAST21
Regioni613 – 633Segment S8Add BLAST21
Regioni677 – 681Heme-binding motif5
Regioni757 – 787DisorderedSequence analysisAdd BLAST31
Regioni837 – 857Segment S9Add BLAST21
Regioni1032 – 1052Segment S10Add BLAST21
Regioni1186 – 1236DisorderedSequence analysisAdd BLAST51

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi352 – 355Selectivity for potassium4
Motifi1003 – 1025Calcium bowlAdd BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi21 – 61Polar residuesSequence analysisAdd BLAST41
Compositional biasi766 – 784Polar residuesSequence analysisAdd BLAST19
Compositional biasi1186 – 1217Polar residuesSequence analysisAdd BLAST32
Compositional biasi1218 – 1236Basic and acidic residuesSequence analysisAdd BLAST19

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The S0 segment is essential for the modulation by the accessory beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4.
The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor.
The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the selectivity filter of the pore. It contains the signature sequence of potassium channels that displays selectivity to potassium.
The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers into functional potassium channel. It includes binding sites for Ca2+ and Mg2+ (By similarity).By similarity
The calcium bowl constitutes one of the Ca2+ sensors and probably acts as a Ca2+-binding site. There are however other Ca2+ sensors regions required for activation of the channel.
The heme-binding motif mediates inhibition of channel activation by heme. Carbon monoxide-bound heme leads to increased channel activation.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa1.1/KCNMA1 sub-subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1420, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154935

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q12791

Identification of Orthologs from Complete Genome Data

More...OMAi		MEMYTES

Database of Orthologous Groups

More...OrthoDBi		124461at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q12791

TreeFam database of animal gene trees

More...TreeFami		TF314283

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR024939, Ca-act_K_channel_Slo-1
IPR005821, Ion_trans_dom
IPR003929, K_chnl_BK_asu
IPR036291, NAD(P)-bd_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR10027:SF28, PTHR10027:SF28, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03493, BK_channel_a, 1 hit
PF00520, Ion_trans, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51735, SSF51735, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 7 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: May be partially controlled by hormonal stress. Additional isoforms seem to exist.

This entry has 7 described isoforms and 68 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12791-1) [UniParc]FASTAAdd to basket
Also known as: SAKCA

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MANGGGGGGG SSGGGGGGGG SSLRMSSNIH ANHLSLDASS SSSSSSSSSS 
        60         70         80         90        100
SSSSSSSSSS VHEPKMDALI IPVTMEVPCD SRGQRMWWAF LASSMVTFFG 
       110        120        130        140        150
GLFIILLWRT LKYLWTVCCH CGGKTKEAQK INNGSSQADG TLKPVDEKEE 
       160        170        180        190        200
AVAAEVGWMT SVKDWAGVMI SAQTLTGRVL VVLVFALSIG ALVIYFIDSS 
       210        220        230        240        250
NPIESCQNFY KDFTLQIDMA FNVFFLLYFG LRFIAANDKL WFWLEVNSVV 
       260        270        280        290        300
DFFTVPPVFV SVYLNRSWLG LRFLRALRLI QFSEILQFLN ILKTSNSIKL 
       310        320        330        340        350
VNLLSIFIST WLTAAGFIHL VENSGDPWEN FQNNQALTYW ECVYLLMVTM 
       360        370        380        390        400
STVGYGDVYA KTTLGRLFMV FFILGGLAMF ASYVPEIIEL IGNRKKYGGS 
       410        420        430        440        450
YSAVSGRKHI VVCGHITLES VSNFLKDFLH KDRDDVNVEI VFLHNISPNL 
       460        470        480        490        500
ELEALFKRHF TQVEFYQGSV LNPHDLARVK IESADACLIL ANKYCADPDA 
       510        520        530        540        550
EDASNIMRVI SIKNYHPKIR IITQMLQYHN KAHLLNIPSW NWKEGDDAIC 
       560        570        580        590        600
LAELKLGFIA QSCLAQGLST MLANLFSMRS FIKIEEDTWQ KYYLEGVSNE 
       610        620        630        640        650
MYTEYLSSAF VGLSFPTVCE LCFVKLKLLM IAIEYKSANR ESRILINPGN 
       660        670        680        690        700
HLKIQEGTLG FFIASDAKEV KRAFFYCKAC HDDITDPKRI KKCGCKRPKM 
       710        720        730        740        750
SIYKRMRRAC CFDCGRSERD CSCMSGRVRG NVDTLERAFP LSSVSVNDCS 
       760        770        780        790        800
TSFRAFEDEQ PSTLSPKKKQ RNGGMRNSPN TSPKLMRHDP LLIPGNDQID 
       810        820        830        840        850
NMDSNVKKYD STGMFHWCAP KEIEKVILTR SEAAMTVLSG HVVVCIFGDV 
       860        870        880        890        900
SSALIGLRNL VMPLRASNFH YHELKHIVFV GSIEYLKREW ETLHNFPKVS 
       910        920        930        940        950
ILPGTPLSRA DLRAVNINLC DMCVILSANQ NNIDDTSLQD KECILASLNI 
       960        970        980        990       1000
KSMQFDDSIG VLQANSQGFT PPGMDRSSPD NSPVHGMLRQ PSITTGVNIP 
      1010       1020       1030       1040       1050
IITELVNDTN VQFLDQDDDD DPDTELYLTQ PFACGTAFAV SVLDSLMSAT 
      1060       1070       1080       1090       1100
YFNDNILTLI RTLVTGGATP ELEALIAEEN ALRGGYSTPQ TLANRDRCRV 
      1110       1120       1130       1140       1150
AQLALLDGPF ADLGDGGCYG DLFCKALKTY NMLCFGIYRL RDAHLSTPSQ 
      1160       1170       1180       1190       1200
CTKRYVITNP PYEFELVPTD LIFCLMQFDH NAGQSRASLS HSSHSSQSSS 
      1210       1220       1230 
KKSSSVHSIP STANRQNRPK SRESRDKQKY VQEERL
Length:1,236
Mass (Da):137,560
Last modified:April 13, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iDF9BFEAF374BE553
GO
Isoform 2 (identifier: Q12791-2) [UniParc]FASTAAdd to basket
Also known as: BKTM

The sequence of this isoform differs from the canonical sequence as follows:
     698-756: PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF → L
     828-828: L → LVTGWMPYLGPRVLMTCLDIGVVCMPTDIQSTSPASIKKFKE

Show »
Length:1,219
Mass (Da):135,495
Checksum:i932986BE30E0D409
GO
Isoform 3 (identifier: Q12791-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     643-643: R → RSRKR

Show »
Length:1,240
Mass (Da):138,087
Checksum:i83DA8EC8C379A3D9
GO
Isoform 4 (identifier: Q12791-4) [UniParc]FASTAAdd to basket
Also known as: hbr5

The sequence of this isoform differs from the canonical sequence as follows:
     698-756: PKMSIYKRMR...NDCSTSFRAF → LKVAARSRYSKDPFEFKKETPNSRLVTEPV

Show »
Length:1,207
Mass (Da):134,362
Checksum:i7B9C03A8BFA5055B
GO
Isoform 5 (identifier: Q12791-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     698-756: PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF → L

Show »
Length:1,178
Mass (Da):130,999
Checksum:iAD3C9634F8A21EEC
GO
Isoform 6 (identifier: Q12791-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-168: EAQKINNGSS...MTSVKDWAGV → ATHFGSPEMP...ALEVARCRRL
     169-1236: Missing.

Show »
Length:168
Mass (Da):17,191
Checksum:i101980B6E7017A03
GO
Isoform 7 (identifier: Q12791-7) [UniParc]FASTAAdd to basket
Also known as: gBK

The sequence of this isoform differs from the canonical sequence as follows:
     698-756: PKMSIYKRMR...NDCSTSFRAF → RWEEHCSLWR...PNSRLVTEPV

Show »
Length:1,239
Mass (Da):138,297
Checksum:iCE8B6449D8C7B9CC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 68 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PQK5A0A1W2PQK5_HUMAN
BK channel
KCNMA1
1,177Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PP94A0A1W2PP94_HUMAN
BK channel
KCNMA1
1,181Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPY5A0A1W2PPY5_HUMAN
BK channel
KCNMA1
1,230Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQU4A0A1W2PQU4_HUMAN
BK channel
KCNMA1
1,178Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PR56A0A1W2PR56_HUMAN
BK channel
KCNMA1
1,212Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PR62A0A1W2PR62_HUMAN
BK channel
KCNMA1
1,236Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRN5A0A1W2PRN5_HUMAN
BK channel
KCNMA1
1,239Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PSD3A0A1W2PSD3_HUMAN
BK channel
KCNMA1
1,178Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZMF5B7ZMF5_HUMAN
BK channel
KCNMA1
1,208Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D5MRH1D5MRH1_HUMAN
BK channel
KCNMA1
1,128Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA50216 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence AAB65837 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAC50353 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAK91504 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAD06365 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti25M → N in AAA50216 (PubMed:7987297).Curated1
Sequence conflicti35S → G in AAA50216 (PubMed:7987297).Curated1
Sequence conflicti38A → V in AAA85104 (PubMed:7877450).Curated1
Sequence conflicti449N → D in AAD31173 (Ref. 12) Curated1
Sequence conflicti805N → H in AAC50353 (PubMed:7993625).Curated1
Sequence conflicti1152T → A in AAD31173 (Ref. 12) Curated1
Isoform 7 (identifier: Q12791-7)
Sequence conflicti726 – 727FS → SF no nucleotide entry (PubMed:11880513).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083554375G → R in LIWAS; loss of voltage-gated potassium channel activity. 1 PublicationCorresponds to variant dbSNP:rs1554829003EnsemblClinVar.1
Natural variantiVAR_023821434D → G in PNKD3; may have a synergistic effect with ethanol in the triggering of symptoms. 1 PublicationCorresponds to variant dbSNP:rs137853333EnsemblClinVar.1
Natural variantiVAR_083555458 – 1236Missing in CADEDS. 1 PublicationAdd BLAST779
Natural variantiVAR_083204518K → N Found in a patient with epileptic encephalopathy; unknown pathological significance; no effect on voltage-dependent sensitivity. 1 PublicationCorresponds to variant dbSNP:rs201996416EnsemblClinVar.1
Natural variantiVAR_083205656E → A Found in a patient with epilepsy; unknown pathological significance; no effect on voltage-dependent sensitivity. 1 PublicationCorresponds to variant dbSNP:rs917980352Ensembl.1
Natural variantiVAR_079156884E → K in PNKD3. 1 Publication1
Natural variantiVAR_0791571053N → S in PNKD3 and EIG16; increased sensitivity to voltage-dependent activation resulting in increased channel activity; no change in calcium sensitivity. 2 PublicationsCorresponds to variant dbSNP:rs886039469EnsemblClinVar.1
Natural variantiVAR_0832061217N → S Found in patient with epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs563967757EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_009952127 – 168EAQKI…DWAGV → ATHFGSPEMPPAARSWSGSP PEAAVLRGASSLALEVARCR RL in isoform 6. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_009953169 – 1236Missing in isoform 6. 1 PublicationAdd BLAST1068
Alternative sequenceiVSP_009954643R → RSRKR in isoform 3. 1 Publication1
Alternative sequenceiVSP_009955698 – 756PKMSI…SFRAF → L in isoform 2 and isoform 5. 9 PublicationsAdd BLAST59
Alternative sequenceiVSP_009956698 – 756PKMSI…SFRAF → LKVAARSRYSKDPFEFKKET PNSRLVTEPV in isoform 4. 2 PublicationsAdd BLAST59
Alternative sequenceiVSP_009957698 – 756PKMSI…SFRAF → RWEEHCSLWRLESKGNVRRL NYCRGQQTFSVKVKVAARSR YSKDPFEFKKETPNSRLVTE PV in isoform 7. CuratedAdd BLAST59
Alternative sequenceiVSP_009958828L → LVTGWMPYLGPRVLMTCLDI GVVCMPTDIQSTSPASIKKF KE in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U13913 mRNA Translation: AAA85104.1
U23767 mRNA Translation: AAA92290.1
AC011439 Genomic DNA No translation available.
AC021032 Genomic DNA No translation available.
AL157833 Genomic DNA No translation available.
AL627447 Genomic DNA No translation available.
AL731556 Genomic DNA No translation available.
AL731560 Genomic DNA No translation available.
AC067745 Genomic DNA No translation available.
AL607069 Genomic DNA No translation available.
AL731575 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54599.1
BC062659 mRNA Translation: AAH62659.1
BC137115 mRNA Translation: AAI37116.1
BC137137 mRNA Translation: AAI37138.1
U11717 mRNA Translation: AAC50353.1 Different initiation.
AY040849 mRNA Translation: AAK91504.1 Different initiation.
AB113575 mRNA Translation: BAD06397.1
AB113382 mRNA Translation: BAD06365.1 Different initiation.
U02632 mRNA Translation: AAA50173.1
U09384 mRNA Translation: AAA50216.1 Sequence problems.
AF025999 mRNA Translation: AAB88802.1
U11058 mRNA Translation: AAB65837.1 Different initiation.
AF118141 mRNA Translation: AAD31173.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53545.1 [Q12791-2]
CCDS60569.1 [Q12791-1]
CCDS60571.1 [Q12791-6]
CCDS7352.1 [Q12791-5]

Protein sequence database of the Protein Information Resource

More...PIRi		I38596
S62904

NCBI Reference Sequences

More...RefSeqi		NP_001014797.1, NM_001014797.2
NP_001154824.1, NM_001161352.1 [Q12791-1]
NP_001154825.1, NM_001161353.1 [Q12791-2]
NP_001258447.1, NM_001271518.1
NP_001258451.1, NM_001271522.1 [Q12791-6]
NP_002238.2, NM_002247.3 [Q12791-5]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000286627; ENSP00000286627; ENSG00000156113 [Q12791-5]
ENST00000286628; ENSP00000286628; ENSG00000156113
ENST00000434208; ENSP00000402150; ENSG00000156113 [Q12791-4]
ENST00000480683; ENSP00000474686; ENSG00000156113 [Q12791-6]
ENST00000626620; ENSP00000485867; ENSG00000156113 [Q12791-2]
ENST00000638575; ENSP00000492049; ENSG00000156113 [Q12791-7]
ENST00000638759; ENSP00000492632; ENSG00000156113 [Q12791-3]
ENST00000640969; ENSP00000492200; ENSG00000156113 [Q12791-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3778

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3778

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000286628.14; ENSP00000286628.8; NM_001161352.2; NP_001154824.1

UCSC genome browser

More...UCSCi		uc001jxm.4, human [Q12791-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13913 mRNA Translation: AAA85104.1
U23767 mRNA Translation: AAA92290.1
AC011439 Genomic DNA No translation available.
AC021032 Genomic DNA No translation available.
AL157833 Genomic DNA No translation available.
AL627447 Genomic DNA No translation available.
AL731556 Genomic DNA No translation available.
AL731560 Genomic DNA No translation available.
AC067745 Genomic DNA No translation available.
AL607069 Genomic DNA No translation available.
AL731575 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54599.1
BC062659 mRNA Translation: AAH62659.1
BC137115 mRNA Translation: AAI37116.1
BC137137 mRNA Translation: AAI37138.1
U11717 mRNA Translation: AAC50353.1 Different initiation.
AY040849 mRNA Translation: AAK91504.1 Different initiation.
AB113575 mRNA Translation: BAD06397.1
AB113382 mRNA Translation: BAD06365.1 Different initiation.
U02632 mRNA Translation: AAA50173.1
U09384 mRNA Translation: AAA50216.1 Sequence problems.
AF025999 mRNA Translation: AAB88802.1
U11058 mRNA Translation: AAB65837.1 Different initiation.
AF118141 mRNA Translation: AAD31173.1
CCDSiCCDS53545.1 [Q12791-2]
CCDS60569.1 [Q12791-1]
CCDS60571.1 [Q12791-6]
CCDS7352.1 [Q12791-5]
PIRiI38596
S62904
RefSeqiNP_001014797.1, NM_001014797.2
NP_001154824.1, NM_001161352.1 [Q12791-1]
NP_001154825.1, NM_001161353.1 [Q12791-2]
NP_001258447.1, NM_001271518.1
NP_001258451.1, NM_001271522.1 [Q12791-6]
NP_002238.2, NM_002247.3 [Q12791-5]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K44NMR-A257-284[»]
3MT5X-ray3.00A406-1179[»]
3NAFX-ray3.10A395-681[»]
A782-1182[»]
6ND0electron microscopy3.50A/B/C/D292-1175[»]
6V22electron microscopy3.20A/B/C/D66-1179[»]
6V35electron microscopy3.50A/B/C/D66-1179[»]
6V38electron microscopy3.80A/B/C/D66-1179[»]
6V3Gelectron microscopy4.00A/B/C/D66-1179[»]
6V5AX-ray2.00A406-1179[»]
BMRBiQ12791
SMRiQ12791
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109979, 19 interactors
CORUMiQ12791
DIPiDIP-29729N
IntActiQ12791, 5 interactors
MINTiQ12791
STRINGi9606.ENSP00000286628

Chemistry databases

BindingDBiQ12791
ChEMBLiCHEMBL4304
DrugBankiDB00436, Bendroflumethiazide
DB00356, Chlorzoxazone
DB04209, Dequalinium
DB01119, Diazoxide
DB01159, Halothane
DB00999, Hydrochlorothiazide
DB00774, Hydroflumethiazide
DB01110, Miconazole
DB00721, Procaine
DB09089, Trimebutine
DrugCentraliQ12791
GuidetoPHARMACOLOGYi380

Protein family/group databases

TCDBi1.A.1.3.10, the voltage-gated ion channel (vic) superfamily

PTM databases

GlyConnecti1058, 1 N-Linked glycan (1 site)
GlyGeniQ12791, 1 site, 1 N-linked glycan (1 site)
iPTMnetiQ12791
MetOSiteiQ12791
PhosphoSitePlusiQ12791
SwissPalmiQ12791

Genetic variation databases

BioMutaiKCNMA1
DMDMi46396283

Proteomic databases

jPOSTiQ12791
MassIVEiQ12791
MaxQBiQ12791
PeptideAtlasiQ12791
PRIDEiQ12791
ProteomicsDBi30456
58926 [Q12791-1]
58927 [Q12791-2]
58928 [Q12791-3]
58929 [Q12791-4]
58930 [Q12791-5]
58931 [Q12791-6]
58932 [Q12791-7]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29733, 342 antibodies from 37 providers

The DNASU plasmid repository

More...DNASUi		3778

Genome annotation databases

EnsembliENST00000286627; ENSP00000286627; ENSG00000156113 [Q12791-5]
ENST00000286628; ENSP00000286628; ENSG00000156113
ENST00000434208; ENSP00000402150; ENSG00000156113 [Q12791-4]
ENST00000480683; ENSP00000474686; ENSG00000156113 [Q12791-6]
ENST00000626620; ENSP00000485867; ENSG00000156113 [Q12791-2]
ENST00000638575; ENSP00000492049; ENSG00000156113 [Q12791-7]
ENST00000638759; ENSP00000492632; ENSG00000156113 [Q12791-3]
ENST00000640969; ENSP00000492200; ENSG00000156113 [Q12791-4]
GeneIDi3778
KEGGihsa:3778
MANE-SelectiENST00000286628.14; ENSP00000286628.8; NM_001161352.2; NP_001154824.1
UCSCiuc001jxm.4, human [Q12791-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3778
DisGeNETi3778

GeneCards: human genes, protein and diseases

More...GeneCardsi		KCNMA1
HGNCiHGNC:6284, KCNMA1
HPAiENSG00000156113, Tissue enhanced (endometrium)
MalaCardsiKCNMA1
MIMi600150, gene
609446, phenotype
617643, phenotype
618596, phenotype
618729, phenotype
neXtProtiNX_Q12791
OpenTargetsiENSG00000156113
Orphaneti79137, Generalized epilepsy-paroxysmal dyskinesia syndrome
528084, Non-specific syndromic intellectual disability
PharmGKBiPA220
VEuPathDBiHostDB:ENSG00000156113

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1420, Eukaryota
GeneTreeiENSGT00940000154935
InParanoidiQ12791
OMAiMEMYTES
OrthoDBi124461at2759
PhylomeDBiQ12791
TreeFamiTF314283

Enzyme and pathway databases

PathwayCommonsiQ12791
ReactomeiR-HSA-1296052, Ca2+ activated K+ channels
R-HSA-418457, cGMP effects
R-HSA-9662360, Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9667769, Acetylcholine inhibits contraction of outer hair cells
SignaLinkiQ12791
SIGNORiQ12791

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3778, 13 hits in 1038 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		KCNMA1, human
EvolutionaryTraceiQ12791

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3778
PharosiQ12791, Tclin

Protein Ontology

More...PROi		PR:Q12791
RNActiQ12791, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000156113, Expressed in parotid gland and 226 other tissues
ExpressionAtlasiQ12791, baseline and differential
GenevisibleiQ12791, HS

Family and domain databases

InterProiView protein in InterPro
IPR024939, Ca-act_K_channel_Slo-1
IPR005821, Ion_trans_dom
IPR003929, K_chnl_BK_asu
IPR036291, NAD(P)-bd_dom_sf
PANTHERiPTHR10027:SF28, PTHR10027:SF28, 1 hit
PfamiView protein in Pfam
PF03493, BK_channel_a, 1 hit
PF00520, Ion_trans, 1 hit
SUPFAMiSSF51735, SSF51735, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKCMA1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12791
Secondary accession number(s): F8WA96
, Q12886, Q12917, Q12921, Q12960, Q13150, Q5JQ23, Q5SQR9, Q96LG8, Q9UBB0, Q9UCX0, Q9UQK6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: February 23, 2022
This is version 206 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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