KCNT1

KCNT1
Identifiers
AliasesKCNT1, EIEE14, ENFL5, KCa4.1, SLACK, bA100C15.2, Slo2.2, potassium sodium-activated channel subfamily T member 1
External IDsMGI: 1924627 HomoloGene: 11055 GeneCards: KCNT1
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q34.3Start135,702,185 bp[1]
End135,795,508 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

57582

227632

Ensembl

ENSG00000107147

ENSMUSG00000058740

UniProt

Q5JUK3

Q6ZPR4

RefSeq (mRNA)

NM_001272003
NM_020822

NM_001145403
NM_175462
NM_001302351

RefSeq (protein)

NP_001258932
NP_065873

NP_001138875
NP_001289280
NP_780671

Location (UCSC)Chr 9: 135.7 – 135.8 MbChr 2: 25.86 – 25.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Potassium channel subfamily T, member 1, also known as KCNT1 is a human gene that encodes the KCa4.1 protein. KCa4.1 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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000107147 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000058740 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: KCNT1 potassium channel, subfamily T, member 1".
  6. ↑ "OMIM: 614959". Missing or empty |url= (help)

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. 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. 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.
  • 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.
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