KCNT1 (potassium sodium-activated channel subfamily T member 1)

2016-10-01  

Identity

HGNC
KCNT1
LOCATION
9q34.3
LOCUSID
57582
ALIAS
DEE14,EIEE14,ENFL5,KCa4.1,SLACK,Slo2.2,bA100C15.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57582
MIM: 608167
HGNC: 18865
Ensembl: ENSG00000107147

Variants:

dbSNP: 57582
ClinVar: 57582
TCGA: ENSG00000107147
COSMIC: KCNT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107147ENST00000263604A0A0R4J2E0
ENSG00000107147ENST00000371757Q5JUK3
ENSG00000107147ENST00000460750F8WC49
ENSG00000107147ENST00000473941C9JBV2
ENSG00000107147ENST00000486577C9J9Y7
ENSG00000107147ENST00000487664Q5JUK3
ENSG00000107147ENST00000488444Q5JUK3
ENSG00000107147ENST00000490355C9JAX7
ENSG00000107147ENST00000491806C9JYL2
ENSG00000107147ENST00000628528Q5JUK3
ENSG00000107147ENST00000630792A0A0D9SFC8
ENSG00000107147ENST00000631073A0A0D9SEY3
ENSG00000107147ENST00000631193A0A0D9SFR1
ENSG00000107147ENST00000636003A0A1B0GWC7
ENSG00000107147ENST00000637082A0A1B0GW26

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
382893382024Coupling of Slack and Na(V)1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development.0
382893382024Coupling of Slack and Na(V)1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development.0
371779762023Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.5
371779762023Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.5
345378722022The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.4
364994592022Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.2
345378722022The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.4
364994592022Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.2
336501282021Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.0
341146112021KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.24
336501282021Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.0
341146112021KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.24
308473712019Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.15
313502612019An Epilepsy-Associated KCNT1 Mutation Enhances Excitability of Human iPSC-Derived Neurons by Increasing Slack K(Na) Currents.43
315325092019KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.11

Citation

Dessen P

KCNT1 (potassium sodium-activated channel subfamily T member 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56032/kcnt1-(potassium-sodium-activated-channel-subfamily-t-member-1)