KCNT1
Potassium channel subfamily T member 1
Also known as: KCa4.1, KCNT1_HUMAN, KIAA1422, SLACK, Slo2.2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5JUK3
- Gene
- KCNT1
- Ensembl
- ENSG00000107147
- Chromosome
- 9
- Canonical length
- 1230 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Subcellular location
- Nucleoplasm,Plasma membrane
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Canonical amino-acid sequenceUniProt
1230 residues, UniProt reviewed canonical sequence.
>Q5JUK3|KCNT1
1 MARAKLPRSP SEGKAGPGGA PAGAAAPEEP HGLSPLLPAR GGGSVGSDVG QRLPVEDFSL
61 DSSLSQVQVE FYVNENTFKE RLKLFFIKNQ RSSLRIRLFN FSLKLLTCLL YIVRVLLDDP
121 ALGIGCWGCP KQNYSFNDSS SEINWAPILW VERKMTLWAI QVIVAIISFL ETMLLIYLSY
181 KGNIWEQIFR VSFVLEMINT LPFIITIFWP PLRNLFIPVF LNCWLAKHAL ENMINDFHRA
241 ILRTQSAMFN QVLILFCTLL CLVFTGTCGI QHLERAGENL SLLTSFYFCI VTFSTVGYGD
301 VTPKIWPSQL LVVIMICVAL VVLPLQFEEL VYLWMERQKS GGNYSRHRAQ TEKHVVLCVS
361 SLKIDLLMDF LNEFYAHPRL QDYYVVILCP TEMDVQVRRV LQIPLWSQRV IYLQGSALKD
421 QDLMRAKMDN GEACFILSSR NEVDRTAADH QTILRAWAVK DFAPNCPLYV QILKPENKFH
481 VKFADHVVCE EECKYAMLAL NCICPATSTL ITLLVHTSRG QEGQESPEQW QRMYGRCSGN
541 EVYHIRMGDS KFFREYEGKS FTYAAFHAHK KYGVCLIGLK REDNKSILLN PGPRHILAAS
601 DTCFYINITK EENSAFIFKQ EEKRKKRAFS GQGLHEGPAR LPVHSIIASM GTVAMDLQGT
661 EHRPTQSGGG GGGSKLALPT ENGSGSRRPS IAPVLELADS SALLPCDLLS DQSEDEVTPS
721 DDEGLSVVEY VKGYPPNSPY IGSSPTLCHL LPVKAPFCCL RLDKGCKHNS YEDAKAYGFK
781 NKLIIVSAET AGNGLYNFIV PLRAYYRSRK ELNPIVLLLD NKPDHHFLEA ICCFPMVYYM
841 EGSVDNLDSL LQCGIIYADN LVVVDKESTM SAEEDYMADA KTIVNVQTMF RLFPSLSITT
901 ELTHPSNMRF MQFRAKDSYS LALSKLEKRE RENGSNLAFM FRLPFAAGRV FSISMLDTLL
961 YQSFVKDYMI TITRLLLGLD TTPGSGYLCA MKITEGDLWI RTYGRLFQKL CSSSAEIPIG
1021 IYRTESHVFS TSESQISVNV EDCEDTREVK GPWGSRAGTG GSSQGRHTGG GDPAEHPLLR
1081 RKSLQWARRL SRKAPKQAGR AAAAEWISQQ RLSLYRRSER QELSELVKNR MKHLGLPTTG
1141 YEDVANLTAS DVMNRVNLGY LQDEMNDHQN TLSYVLINPP PDTRLEPSDI VYLIRSDPLA
1201 HVASSSQSRK SSCSHKLSSC NPETRDETQLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 53 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 53 nTPM
- cerebral cortex: 35 nTPM
- basal ganglia: 16 nTPM
- spleen: 15 nTPM
- skeletal muscle: 13 nTPM
- pituitary gland: 8.3 nTPM
Single-cell type
- brain inhibitory neurons: 67 nCPM
- brain excitatory neurons: 49 nCPM
- gonadotrophs: 26 nCPM
- other brain neurons: 24 nCPM
- myonuclei: 23 nCPM
- oocytes: 18 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 106 nTPM
- white matter: 59 nTPM
- pons: 39 nTPM
- basal ganglia: 37 nTPM
- cerebellum: 30 nTPM
- hippocampal formation: 27 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNT1.
Disease | AllUniProt
Conditions KCNT1 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 14 (DEE14) MIM:614959
- Epilepsy, nocturnal frontal lobe, 5 (ENFL5) MIM:615005
Disease | GeneticClinVar
79 pathogenic / likely-pathogenic of 2,582 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy, 14
- Autosomal dominant nocturnal frontal lobe epilepsy 5
- Inborn genetic diseases
- Seizure
- KCNT1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.47
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.86
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- intracellular sodium-activated potassium channel activity
- metal ion binding
- outward rectifier potassium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KCNT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KCNT1 as an antibody target. Whether an autoantibody or antibody against KCNT1 could matter depends on whether native KCNT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNT1 is annotated at the cell surface, where native KCNT1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KCNT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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