KCNT1 - potassium sodium-activated channel subfamily T member 1 Gene

Also Known as DEE14; ENFL5; SLACK; EIEE14; KCa4.1; Slo2.2; bA100C15.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57582

About KCNT1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:135,702,185-135,795,502 (from NCBI)

This gene has 32 transcripts (splice variants), 259 orthologues, 3 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 4.3), spleen (RPKM 2.1) and 2 other tissues.

Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated Potassium Channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

KCNT1 Products (2)

mRNA	Protein	Name
NM_001272003.2	NP_001258932.1	potassium channel subfamily T member 1 isoform 2
NM_020822.3	NP_065873.2	potassium channel subfamily T member 1 isoform 1

KCNT1 Protein Structure

Ion_trans_2

BK_channel_a

0
200
400
600
800
1000
1235 a.a.

Protein Preferred Names	Protein Names
potassium channel subfamily T member 1	Sequence like a calcium-activated K+ channel

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 14	Malignant Migrating Partial Seizures Of Infancy Eiee14 Epilepsy Of Infancy With Migrating Focal Seizures Mmpsi DEE14 Epileptic Encephalopathy, Early Infantile, 14 Early Infantile Epileptic Encephalopathy 14 Malignant Migrating Partial Epilepsy Of Infancy Migrating Partial Epilepsy Of Infancy Migrating Partial Seizures Of Infancy Mmpei Mpei Mpsi Malignant Migrating Focal Seizures Of Infancy Migrating Partial Seizures In Infancy Developmental And Epileptic Encephalopathy, 14 Encephalopathy, Epileptic, Early Infantile, Type 14
Epilepsy, Nocturnal Frontal Lobe, 5	ENFL5 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 5 Epilepsy Nocturnal Frontal Lobe, 5 Nocturnal Frontal Lobe Epilepsy 5 Epilepsy, Frontal Lobe, Nocturnal, Type 5
Ciliary Dyskinesia, Primary, 28	Primary Ciliary Dyskinesia 28 CILD28 Primary Ciliary Dyskinesia 28 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 28, With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 28, Without Situs Inversus Dyskinesia, Ciliary, Primary, 28
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Partial Motor Epilepsy	Epilepsy, Partial, Motor Epilepsy, Focal Motor Focal Motor Seizure
Developmental And Epileptic Encephalopathy 7	Epileptic Encephalopathy, Early Infantile, 7 DEE7 Eiee7 Kcnq2-Related Epileptic Encephalopathy Kcnq2-Related Neonatal Epileptic Encephalopathy Developmental And Epileptic Encephalopathy, 7 Early Infantile Epileptic Encephalopathy 7 Kcnq2-Nee Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile, Type 7 Early Infantile Epileptic Encephalopathy With Suppression Bursts
Developmental And Epileptic Encephalopathy 21	DEE21 Epileptic Encephalopathy, Early Infantile, 21 Eiee21 Developmental And Epileptic Encephalopathy, 21 Early Infantile Epileptic Encephalopathy 21 Encephalopathy, Epileptic, Early Infantile, Type 21
Infancy Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 8	DEE8 Epileptic Encephalopathy, Early Infantile, 8 Eiee8 Hyperekplexia And Epilepsy Developmental And Epileptic Encephalopathy, 8 Early Infantile Epileptic Encephalopathy 8 Hyperekplexia-Epilepsy Syndrome Hyperekplexia With Epilepsy Startle Disease With Epilepsy Encephalopathy, Epileptic, Early Infantile, Type 8
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Neonatal Period Electroclinical Syndrome
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Febrile Seizures, Familial, 3b GEFSP7 GEFS+7 Generalized Epilepsy With Febrile Seizures Plus 7 Gefs+, Type 7 Generalised Epilepsy With Febrile Seizures Plus 7 Generalised Epilepsy With Febrile Seizures Plus Type 7 Generalized Epilepsy With Febrile Seizures Plus Type 7 FEB3B Familial Febrile Convulsions 3 Gefs+ Type 7 Epilepsy, Generalized, With Febrile Seizures Plus, Type 7 Generalized Epilepsy With Febrile Seizures Plus, 7
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Immunodeficiency 34	Atypical Mycobacteriosis, Familial, X-Linked 2 X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To Cybb Deficiency IMD34 Amcbx2 Immunodeficiency 34, Mycobacteriosis, X-Linked X-Linked Msmd Due To Cybb Deficiency Familial Atypical Mycobacteriosis X-Linked 2 Familial, X-Linked, Atypical Mycobacteriosis 2 Familial Disseminated Atypical Mycobacterial Infection X-Linked 2 Mendelian Susceptibility To Mycobacterial Disease X-Linked 2 X-Linked Immunodeficiency 34, Mycobacteriosis Immunodeficiency, Type 34, Mycobacteriosis, X-Linked
Developmental And Epileptic Encephalopathy 2	Epileptic Encephalopathy, Early Infantile, 2 DEE2 Eiee2 Issx2 Developmental And Epileptic Encephalopathy, 2 Infantile Spasm Syndrome, X-Linked 2 Early Infantile Epileptic Encephalopathy 2 X-Linked Infantile Spasm Syndrome 2 Atypical Rett Syndrome Cdkl5-Related Atypical Rett Syndrome Hanefeld Variant Infantile Spasm Syndrome X-Linked 2 Rett Syndrome Early-Onset Seizure Variant Rett Syndrome Variant With Infantile Spasms Encephalopathy, Epileptic, Early Infantile, Type 2
Childhood Electroclinical Syndrome
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Benign Neonatal Seizures	Benign Neonatal Epilepsy Benign Familial Neonatal Seizures Benign Neonatal Convulsions Benign Familial Neonatal Convulsions Benign Familial Neonatal Epilepsy Bfne Bfns Seizures, Benign Neonatal Neonatal Convulsions Benign Epilepsy, Benign Neonatal Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion Familial Benign Neonatal Epilepsy
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Dystonia 25	DYT25 Dystonia-25 Dystonia, Type 25
Torsion Dystonia 2	Dystonia 2, Torsion, Autosomal Recessive
Fructose-1,6-Bisphosphatase Deficiency	Fructose-1,6-Diphosphatase Deficiency Baker-Winegrad Disease FBP1D Fbpase Deficiency Fructose 1,6 Diphosphatase Deficiency Fructose 1 Phosphate Aldolase Deficiency Fbp1 Deficiency Hereditary Fructose Intolerance Syndrome
Molybdenum Cofactor Deficiency, Complementation Group A	MOCODA Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A Molybdenum Cofactor Deficiency A Molybdenum Cofactor Deficiency Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A Mocod Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of Molybdenum Cofactor Deficiency Complementation Group A Molybdenum Cofactor Deficiency, Type A Deficiency, Molybdenum Cofactor, Complementation Group A
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-162549	CPK20	Inhibitor	99.67%	Unkown
HY-159958	KNa1.1-IN-2	Antagonist	/	Unkown
HY-175335	KCNT1-IN-1	Inhibitor	99.18%	Unkown
HY-179093	KCNT1-IN-3	Inhibitor	/	Unkown
HY-RS07181	KCNT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-175336	KCNT1-IN-2	Inhibitor	/	Unkown
HY-P0058S	Pramlintide-(Ala-13C3,15N)		/	Unkown
HY-RS22590	Kcnt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCNT1	RGD	RGD:621106
Mus musculus	KCNT1	MGD	MGI:1924627
Macaca mulatta	KCNT1	VGNC	VGNC:73856
Canis familiaris	KCNT1	VGNC	VGNC:42295
Bos taurus	KCNT1	VGNC	VGNC:30494
Felis catus	KCNT1	VGNC	VGNC:63047
Others	KCNT1	NCBI