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Entry version 145 (16 Oct 2019)
Sequence version 2 (30 Aug 2005)
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Protein

Potassium channel subfamily T member 1

Gene

KCNT1

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

Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity).By similarity

<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

<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
Biological processIon transport, Potassium transport, Transport
LigandCalcium, Potassium

<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_and_taxonomy_section">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:
Potassium channel subfamily T member 1
Alternative name(s):
KCa4.1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:KCNT1
Synonyms:KIAA1422
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18865 KCNT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608167 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5JUK3

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 97CytoplasmicSequence analysisAdd BLAST97
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei98 – 118Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini119 – 155ExtracellularSequence analysisAdd BLAST37
Transmembranei156 – 176Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini177 – 187CytoplasmicSequence analysisAdd BLAST11
Transmembranei188 – 208Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini209 – 213ExtracellularSequence analysis5
Transmembranei214 – 226Helical; Name=Segment S4Sequence analysisAdd BLAST13
Topological domaini227 – 251CytoplasmicSequence analysisAdd BLAST25
Transmembranei252 – 272Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini273 – 281ExtracellularSequence analysis9
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Intramembranei282 – 302Pore-formingSequence analysisAdd BLAST21
Topological domaini303 – 304ExtracellularSequence analysis2
Transmembranei305 – 325Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini326 – 1230CytoplasmicSequence analysisAdd BLAST905

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

Epileptic encephalopathy, early infantile, 14 (EIEE14)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another.
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_078683269G → S in EIEE14. 2 PublicationsCorresponds to variant dbSNP:rs587777264Ensembl.1
Natural variantiVAR_069312409R → Q in EIEE14; gain-of-function mutation. 1 PublicationCorresponds to variant dbSNP:rs397515402Ensembl.1
Natural variantiVAR_069313455R → H in EIEE14. 1 PublicationCorresponds to variant dbSNP:rs397515404Ensembl.1
Natural variantiVAR_078214497M → V in EIEE14. 1 PublicationCorresponds to variant dbSNP:rs886041691Ensembl.1
Natural variantiVAR_078641562T → I in EIEE14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1185192267Ensembl.1
Natural variantiVAR_069314741I → M in EIEE14. 1 PublicationCorresponds to variant dbSNP:rs370521183Ensembl.1
Natural variantiVAR_078684877M → K in EIEE14; unknown pathological significance. 1 Publication1
Natural variantiVAR_069318915A → T in EIEE14; gain-of-function mutation. 2 PublicationsCorresponds to variant dbSNP:rs397515403Ensembl.1
Natural variantiVAR_078215928K → E in EIEE14. 1 PublicationCorresponds to variant dbSNP:rs1057519544Ensembl.1
Natural variantiVAR_078685947A → T in EIEE14; variant homologue in rat has increased channel activity upon positive potentials. 1 PublicationCorresponds to variant dbSNP:rs1424788778Ensembl.1
Natural variantiVAR_0786421088R → Q in EIEE14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758311066Ensembl.1
Epilepsy, nocturnal frontal lobe, 5 (ENFL5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069311379R → Q in ENFL5. 1 PublicationCorresponds to variant dbSNP:rs397515407Ensembl.1
Natural variantiVAR_069315777Y → H in ENFL5. 1 PublicationCorresponds to variant dbSNP:rs397515406Ensembl.1
Natural variantiVAR_069316877M → I in ENFL5. 1 PublicationCorresponds to variant dbSNP:rs797044544Ensembl.1
Natural variantiVAR_069317909R → C in ENFL5. 1 PublicationCorresponds to variant dbSNP:rs397515405Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
57582

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
KCNT1

MalaCards human disease database

More...
MalaCardsi
KCNT1
MIMi614959 phenotype
615005 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000107147

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

More...
Orphaneti
98784 Autosomal dominant nocturnal frontal lobe epilepsy
293181 Malignant migrating focal seizures of infancy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38725

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5JUK3

Chemistry databases

DrugCentral

More...
DrugCentrali
Q5JUK3

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
385

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KCNT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
73920089

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000540901 – 1230Potassium channel subfamily T member 1Add BLAST1230

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi133N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi137N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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 by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity (By similarity).By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5JUK3

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q5JUK3

PeptideAtlas

More...
PeptideAtlasi
Q5JUK3

PRoteomics IDEntifications database

More...
PRIDEi
Q5JUK3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
34049
63278 [Q5JUK3-1]
63279 [Q5JUK3-2]
7527

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5JUK3

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

More...
PhosphoSitePlusi
Q5JUK3

<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

Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000107147 Expressed in 100 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5JUK3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5JUK3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA059880

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via C-terminus) with FMR1; this interaction alters gating properties of KCNT1 (PubMed:20512134).

Interacts with CRBN via its cytoplasmic C-terminus (By similarity).

By similarity1 Publication

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000360822

<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

3D structure databases

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

More...
SMRi
Q5JUK3

Database of comparative protein structure models

More...
ModBasei
Search...

<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_and_domains_section">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>Domaini475 – 596RCK N-terminalAdd BLAST122

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3193 Eukaryota
ENOG410XSMA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156880

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231460

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5JUK3

KEGG Orthology (KO)

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KOi
K04946

Identification of Orthologs from Complete Genome Data

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OMAi
CKHNSFE

Database of Orthologous Groups

More...
OrthoDBi
858812at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5JUK3

TreeFam database of animal gene trees

More...
TreeFami
TF314283

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003929 K_chnl_BK_asu
IPR013099 K_chnl_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03493 BK_channel_a, 1 hit
PF07885 Ion_trans_2, 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_length">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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

This entry has 4 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5JUK3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MARAKLPRSP SEGKAGPGGA PAGAAAPEEP HGLSPLLPAR GGGSVGSDVG
60 70 80 90 100
QRLPVEDFSL DSSLSQVQVE FYVNENTFKE RLKLFFIKNQ RSSLRIRLFN
110 120 130 140 150
FSLKLLTCLL YIVRVLLDDP ALGIGCWGCP KQNYSFNDSS SEINWAPILW
160 170 180 190 200
VERKMTLWAI QVIVAIISFL ETMLLIYLSY KGNIWEQIFR VSFVLEMINT
210 220 230 240 250
LPFIITIFWP PLRNLFIPVF LNCWLAKHAL ENMINDFHRA ILRTQSAMFN
260 270 280 290 300
QVLILFCTLL CLVFTGTCGI QHLERAGENL SLLTSFYFCI VTFSTVGYGD
310 320 330 340 350
VTPKIWPSQL LVVIMICVAL VVLPLQFEEL VYLWMERQKS GGNYSRHRAQ
360 370 380 390 400
TEKHVVLCVS SLKIDLLMDF LNEFYAHPRL QDYYVVILCP TEMDVQVRRV
410 420 430 440 450
LQIPLWSQRV IYLQGSALKD QDLMRAKMDN GEACFILSSR NEVDRTAADH
460 470 480 490 500
QTILRAWAVK DFAPNCPLYV QILKPENKFH VKFADHVVCE EECKYAMLAL
510 520 530 540 550
NCICPATSTL ITLLVHTSRG QEGQESPEQW QRMYGRCSGN EVYHIRMGDS
560 570 580 590 600
KFFREYEGKS FTYAAFHAHK KYGVCLIGLK REDNKSILLN PGPRHILAAS
610 620 630 640 650
DTCFYINITK EENSAFIFKQ EEKRKKRAFS GQGLHEGPAR LPVHSIIASM
660 670 680 690 700
GTVAMDLQGT EHRPTQSGGG GGGSKLALPT ENGSGSRRPS IAPVLELADS
710 720 730 740 750
SALLPCDLLS DQSEDEVTPS DDEGLSVVEY VKGYPPNSPY IGSSPTLCHL
760 770 780 790 800
LPVKAPFCCL RLDKGCKHNS YEDAKAYGFK NKLIIVSAET AGNGLYNFIV
810 820 830 840 850
PLRAYYRSRK ELNPIVLLLD NKPDHHFLEA ICCFPMVYYM EGSVDNLDSL
860 870 880 890 900
LQCGIIYADN LVVVDKESTM SAEEDYMADA KTIVNVQTMF RLFPSLSITT
910 920 930 940 950
ELTHPSNMRF MQFRAKDSYS LALSKLEKRE RENGSNLAFM FRLPFAAGRV
960 970 980 990 1000
FSISMLDTLL YQSFVKDYMI TITRLLLGLD TTPGSGYLCA MKITEGDLWI
1010 1020 1030 1040 1050
RTYGRLFQKL CSSSAEIPIG IYRTESHVFS TSESQISVNV EDCEDTREVK
1060 1070 1080 1090 1100
GPWGSRAGTG GSSQGRHTGG GDPAEHPLLR RKSLQWARRL SRKAPKQAGR
1110 1120 1130 1140 1150
AAAAEWISQQ RLSLYRRSER QELSELVKNR MKHLGLPTTG YEDVANLTAS
1160 1170 1180 1190 1200
DVMNRVNLGY LQDEMNDHQN TLSYVLINPP PDTRLEPSDI VYLIRSDPLA
1210 1220 1230
HVASSSQSRK SSCSHKLSSC NPETRDETQL
Note: No experimental confirmation available.
Length:1,230
Mass (Da):138,343
Last modified:August 30, 2005 - 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:i482D70015434493E
GO
Isoform 2 (identifier: Q5JUK3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MARAKLPRSP...DFSLDSSLSQ → MPLPDGARTP...GDPSFQNDDR
     1033-1033: E → EPHDLRAQ

Note: No experimental confirmation available.
Show »
Length:1,256
Mass (Da):142,004
Checksum:iD6F9FCC8D1383EE6
GO
Isoform 3 (identifier: Q5JUK3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MARAKLPRSP...DFSLDSSLSQ → MPLPDGARTP...GDPSFQNDDR
     1033-1033: E → EPHDLRAQ
     1142-1162: Missing.

Note: No experimental confirmation available.
Show »
Length:1,235
Mass (Da):139,700
Checksum:iAACACE2A0A39A693
GO
Isoform 4 (identifier: Q5JUK3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MARAKLPRSP...DFSLDSSLSQ → MPLPDGARTP...EFDDGQCAPR
     266-266: G → GGCR
     1033-1033: E → EPHDLRAQ

Note: No experimental confirmation available.
Show »
Length:1,211
Mass (Da):136,987
Checksum:i781214BF3727177C
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J9Y7C9J9Y7_HUMAN
Potassium channel subfamily T membe...
KCNT1
1,217Annotation score:

Annotation score:1 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>
C9JAX7C9JAX7_HUMAN
Potassium channel subfamily T membe...
KCNT1
1,235Annotation score:

Annotation score:1 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>
A0A0R4J2E0A0A0R4J2E0_HUMAN
Potassium channel subfamily T membe...
KCNT1
1,223Annotation score:

Annotation score:1 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>
C9JYL2C9JYL2_HUMAN
Potassium channel subfamily T membe...
KCNT1
1,216Annotation score:

Annotation score:1 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>
A0A0D9SEY3A0A0D9SEY3_HUMAN
Potassium channel subfamily T membe...
KCNT1
1,237Annotation score:

Annotation score:1 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>
A0A0D9SFC8A0A0D9SFC8_HUMAN
Potassium channel subfamily T membe...
KCNT1
1,201Annotation score:

Annotation score:1 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>
C9JBV2C9JBV2_HUMAN
Potassium channel subfamily T membe...
KCNT1
285Annotation score:

Annotation score:1 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>
A0A1B0GW26A0A1B0GW26_HUMAN
Potassium channel subfamily T membe...
KCNT1
33Annotation score:

Annotation score:1 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>
A0A1B0GWC7A0A1B0GWC7_HUMAN
Potassium channel subfamily T membe...
KCNT1
53Annotation score:

Annotation score:1 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>
F8WC49F8WC49_HUMAN
Potassium channel subfamily T membe...
KCNT1
122Annotation score:

Annotation score:1 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 is more potential isoformShow 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 BAA92660 differs from that shown. Reason: Erroneous initiation. Extended 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 conflicti107T → I in BAG54469 (PubMed:14702039).Curated1
Sequence conflicti498L → P in BAG54469 (PubMed:14702039).Curated1
Sequence conflicti615A → V in AAI71770 (PubMed:15489334).Curated1
Sequence conflicti822K → E in BAG54469 (PubMed:14702039).Curated1
Sequence conflicti969M → K in BAG54469 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078683269G → S in EIEE14. 2 PublicationsCorresponds to variant dbSNP:rs587777264Ensembl.1
Natural variantiVAR_069311379R → Q in ENFL5. 1 PublicationCorresponds to variant dbSNP:rs397515407Ensembl.1
Natural variantiVAR_069312409R → Q in EIEE14; gain-of-function mutation. 1 PublicationCorresponds to variant dbSNP:rs397515402Ensembl.1
Natural variantiVAR_069313455R → H in EIEE14. 1 PublicationCorresponds to variant dbSNP:rs397515404Ensembl.1
Natural variantiVAR_078214497M → V in EIEE14. 1 PublicationCorresponds to variant dbSNP:rs886041691Ensembl.1
Natural variantiVAR_078641562T → I in EIEE14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1185192267Ensembl.1
Natural variantiVAR_069314741I → M in EIEE14. 1 PublicationCorresponds to variant dbSNP:rs370521183Ensembl.1
Natural variantiVAR_069315777Y → H in ENFL5. 1 PublicationCorresponds to variant dbSNP:rs397515406Ensembl.1
Natural variantiVAR_069316877M → I in ENFL5. 1 PublicationCorresponds to variant dbSNP:rs797044544Ensembl.1
Natural variantiVAR_078684877M → K in EIEE14; unknown pathological significance. 1 Publication1
Natural variantiVAR_069317909R → C in ENFL5. 1 PublicationCorresponds to variant dbSNP:rs397515405Ensembl.1
Natural variantiVAR_069318915A → T in EIEE14; gain-of-function mutation. 2 PublicationsCorresponds to variant dbSNP:rs397515403Ensembl.1
Natural variantiVAR_078215928K → E in EIEE14. 1 PublicationCorresponds to variant dbSNP:rs1057519544Ensembl.1
Natural variantiVAR_078685947A → T in EIEE14; variant homologue in rat has increased channel activity upon positive potentials. 1 PublicationCorresponds to variant dbSNP:rs1424788778Ensembl.1
Natural variantiVAR_0786421088R → Q in EIEE14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs758311066Ensembl.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_0154701 – 66MARAK…SSLSQ → MPLPDGARTPGGVCREARGG GYTNRTFEFDDGQCAPRRPC AGDGALLDTAGFKMSDLDSE VLPLPPRYRFRDLLLGDPSF QNDDR in isoform 2 and isoform 3. 2 PublicationsAdd BLAST66
Alternative sequenceiVSP_0557001 – 66MARAK…SSLSQ → MPLPDGARTPGGVCREARGG GYTNRTFEFDDGQCAPR in isoform 4. 1 PublicationAdd BLAST66
Alternative sequenceiVSP_055701266G → GGCR in isoform 4. 1 Publication1
Alternative sequenceiVSP_0154711033E → EPHDLRAQ in isoform 2, isoform 3 and isoform 4. 3 Publications1
Alternative sequenceiVSP_0444761142 – 1162Missing in isoform 3. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK127272 mRNA Translation: BAG54469.1
AL158822 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88180.1
BC136618 mRNA Translation: AAI36619.1
BC171770 mRNA Translation: AAI71770.1
AB037843 mRNA Translation: BAA92660.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS35175.2 [Q5JUK3-3]
CCDS65188.1 [Q5JUK3-4]

NCBI Reference Sequences

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RefSeqi
NP_001258932.1, NM_001272003.1 [Q5JUK3-4]
NP_065873.2, NM_020822.2 [Q5JUK3-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371757; ENSP00000360822; ENSG00000107147 [Q5JUK3-3]
ENST00000487664; ENSP00000417851; ENSG00000107147 [Q5JUK3-2]
ENST00000488444; ENSP00000419007; ENSG00000107147 [Q5JUK3-1]
ENST00000628528; ENSP00000486374; ENSG00000107147 [Q5JUK3-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57582

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57582

UCSC genome browser

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UCSCi
uc011mdq.3 human [Q5JUK3-1]

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
AK127272 mRNA Translation: BAG54469.1
AL158822 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88180.1
BC136618 mRNA Translation: AAI36619.1
BC171770 mRNA Translation: AAI71770.1
AB037843 mRNA Translation: BAA92660.1 Different initiation.
CCDSiCCDS35175.2 [Q5JUK3-3]
CCDS65188.1 [Q5JUK3-4]
RefSeqiNP_001258932.1, NM_001272003.1 [Q5JUK3-4]
NP_065873.2, NM_020822.2 [Q5JUK3-3]

3D structure databases

SMRiQ5JUK3
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000360822

Chemistry databases

DrugCentraliQ5JUK3
GuidetoPHARMACOLOGYi385

PTM databases

iPTMnetiQ5JUK3
PhosphoSitePlusiQ5JUK3

Polymorphism and mutation databases

BioMutaiKCNT1
DMDMi73920089

Proteomic databases

MassIVEiQ5JUK3
PaxDbiQ5JUK3
PeptideAtlasiQ5JUK3
PRIDEiQ5JUK3
ProteomicsDBi34049
63278 [Q5JUK3-1]
63279 [Q5JUK3-2]
7527

Genome annotation databases

EnsembliENST00000371757; ENSP00000360822; ENSG00000107147 [Q5JUK3-3]
ENST00000487664; ENSP00000417851; ENSG00000107147 [Q5JUK3-2]
ENST00000488444; ENSP00000419007; ENSG00000107147 [Q5JUK3-1]
ENST00000628528; ENSP00000486374; ENSG00000107147 [Q5JUK3-4]
GeneIDi57582
KEGGihsa:57582
UCSCiuc011mdq.3 human [Q5JUK3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57582
DisGeNETi57582

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KCNT1
GeneReviewsiKCNT1
HGNCiHGNC:18865 KCNT1
HPAiHPA059880
MalaCardsiKCNT1
MIMi608167 gene
614959 phenotype
615005 phenotype
neXtProtiNX_Q5JUK3
OpenTargetsiENSG00000107147
Orphaneti98784 Autosomal dominant nocturnal frontal lobe epilepsy
293181 Malignant migrating focal seizures of infancy
PharmGKBiPA38725

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3193 Eukaryota
ENOG410XSMA LUCA
GeneTreeiENSGT00940000156880
HOGENOMiHOG000231460
InParanoidiQ5JUK3
KOiK04946
OMAiCKHNSFE
OrthoDBi858812at2759
PhylomeDBiQ5JUK3
TreeFamiTF314283

Miscellaneous databases

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

More...
ChiTaRSi
KCNT1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KCNT1

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

More...
GenomeRNAii
57582
PharosiQ5JUK3

Protein Ontology

More...
PROi
PR:Q5JUK3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000107147 Expressed in 100 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ5JUK3 baseline and differential
GenevisibleiQ5JUK3 HS

Family and domain databases

InterProiView protein in InterPro
IPR003929 K_chnl_BK_asu
IPR013099 K_chnl_dom
PfamiView protein in Pfam
PF03493 BK_channel_a, 1 hit
PF07885 Ion_trans_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiKCNT1_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: Q5JUK3
Secondary accession number(s): B3KXF7
, B7ZVY4, B9EGP2, G5E9V0, Q9P2C5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: October 16, 2019
This is version 145 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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