Version 5.4
Homo sapiens Protein: KCNT1
Summary
InnateDB Protein IDBP-92108.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNT1
Protein Name potassium channel, subfamily T, member 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000263604
InnateDB Gene IDBG-92102 (KCNT1)
Protein Structure
UniProt Annotation
Function 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). {ECO:0000250}.
Subcellular Localization Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Disease Associations Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]: A 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. {ECO:0000269PubMed:23086397}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]: An 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. {ECO:0000269PubMed:23086396}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO:0000269PubMed:10718198}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005249 voltage-gated potassium channel activity
GO:0015269 calcium-activated potassium channel activity
Biological Process
GO:0006813 potassium ion transport
GO:0071805 potassium ion transmembrane transport
Cellular Component
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR003929 Potassium channel, calcium-activated, BK, alpha subunit
IPR013099 Two pore domain potassium channel domain
PFAM PF03493
PF07885
PRINTS PR01449
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5JUK3
PhosphoSite PhosphoSite-Q5JUK3
TrEMBL
UniProt Splice Variant
Entrez Gene 57582
UniGene Hs.104950
RefSeq
HUGO HGNC:18865
OMIM 608167
CCDS
HPRD
IMGT
EMBL AB037843 AL158822 BC136618 BC171770
GenPept AAI36619 AAI71770 BAA92660 CAI39240

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca