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KCNT1 Identifiers Aliases KCNT1 , EIEE14, ENFL5, KCa4.1, SLACK, bA100C15.2, Slo2.2, potassium sodium-activated channel subfamily T member 1, DEE14External IDs OMIM : 608167 MGI : 1924627 HomoloGene : 11055 GeneCards : KCNT1 Gene location (Human ) Chr. Chromosome 9 (human) [1] Band 9q34.3 Start 135,702,185 bp [1] End 135,795,508 bp [1]
Gene location (Mouse ) Chr. Chromosome 2 (mouse)[2] Band 2|2 A3 Start 25,863,734 bp [2] End 25,918,273 bp [2]
Gene ontology Molecular function Cellular component Biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez Ensembl UniProt RefSeq (mRNA) RefSeq (protein) Location (UCSC) Chr 9: 135.7 – 135.8 Mb Chr 2: 25.86 – 25.92 Mb PubMed search[3] [4] Wikidata
Potassium channel subfamily T, member 1 , also known as KCNT1 is a human gene that encodes the KCa 4.1 protein. KCa 4.1 is a member of the calcium-activated potassium channel protein family [5]
Associated Conditions [ ]
Mutations in the KCNT1 gene has been shown to be a cause of Early Infantile Epileptic Encephalopathy . [6]
See also [ ]
References [ ]
Further reading [ ]
Nagase T, Kikuno R, Ishikawa KI, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro" . DNA Res . 7 (1): 65–73. doi :10.1093/dnares/7.1.65 . PMID 10718198 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 . PMC 139241 . PMID 12477932 .
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 . PMID 16344560 .
Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9" . Nature . 429 (6990): 369–74. Bibcode :2004Natur.429..369H . doi :10.1038/nature02465 . PMC 2734081 . PMID 15164053 .
Wei AD, Gutman GA, Aldrich R, et al. (2005). "International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels". Pharmacol. Rev . 57 (4): 463–72. doi :10.1124/pr.57.4.9 . PMID 16382103 . S2CID 8290401 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 . PMID 14702039 .
Ligand-gated Voltage-gated
α2 δ-subunits
β-subunits
γ-subunits
Na+ : Sodium channel
Constitutively active
Epithelial sodium channel
Proton -gated
Amiloride-sensitive cation channel
Voltage-gated
Nav α
1.1
1.2
1.3
1.4
1.5
1.6
1.7
1.8
1.9
7A
Nav β
K+ : Potassium channel
Calcium-activated Inward-rectifier Tandem pore domain Voltage-gated
Miscellaneous
Cl− : Chloride channel
Calcium-activated chloride channels
Anoctamin
Bestrophin
Chloride Channel Accessory
CFTR
CLCN
CLIC
CLNS
H+ : Proton channel M+ : CNG cation channel M+ : TRP cation channel H2 O (+ solutes ): Porin Cytoplasm : Gap junction
see also disorders
Categories :
Genes on human chromosome 9 Membrane protein stubs Ion channels Hidden categories:
CS1 errors: requires URL All stub articles