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KCNT1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

KCNT1

Identifiers

Aliases

KCNT1, EIEE14, ENFL5, KCa4.1, SLACK, bA100C15.2, Slo2.2, potassium sodium-activated channel subfamily T member 1, DEE14

External IDs

OMIM:608167;MGI:1924627;HomoloGene:11055;GeneCards:KCNT1;OMA:KCNT1 - orthologs

Gene location (Human)

Chr.	Chromosome 9 (human)^[1]

Band	9q34.3	Start	135,702,185bp^[1]
Band	9q34.3	End	135,795,508bp^[1]

Gene location (Mouse)

Chr.	Chromosome 2 (mouse)^[2]

Band	2\|2 A3	Start	25,753,746bp^[2]
Band	2\|2 A3	End	25,808,285bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right hemisphere of cerebellum

right frontal lobe

Brodmann area 9

anterior cingulate cortex

gastrocnemius muscle

putamen

muscle of thigh

prefrontal cortex

caudate nucleus

spleen

Top expressed in

cerebellar cortex

superior frontal gyrus

primary visual cortex

lobe of cerebellum

cerebellar vermis

olfactory tubercle

superior colliculus

inferior colliculi

central gray substance of midbrain

lateral septal nucleus

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	voltage-gated potassium channel activity potassium channel activity calcium-activated potassium channel activity intracellular sodium activated potassium channel activity outward rectifier potassium channel activity
Cellular component	integral component of membrane voltage-gated potassium channel complex plasma membrane membrane
Biological process	potassium ion transport ion transport potassium ion transmembrane transport regulation of membrane potential
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

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 Mb

Chr 2: 25.75 – 25.81 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Potassium channel subfamily T, member 1, also known asKCNT1 orSLACK is a humangene that encodes theK_Ca4.1 protein. K_Ca4.1 is a member of thecalcium-activated potassium channel protein family^[5]

Associated Conditions

[edit]

Mutations in the KCNT1 gene has been shown to be a cause ofOhtahara syndrome and other congenitalneurodegenerative diseases.^[6]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000107147 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000058740 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Entrez Gene: KCNT1 potassium channel, subfamily T, member 1".
^"OMIM: 614959".{{cite web}}:Missing or empty|url= (help)

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.

Thismembrane protein–related article is astub. You can help Wikipedia byexpanding it.

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see alsodisorders

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KCNT1

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See also

References

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