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FLASH GENE

Symbol

KCNT1

contributors: npt/mct - updated : 20-01-2015

HGNC name	potassium channel, subfamily T, member 1
HGNC id	18865

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE14 epileptic encephalopathy, early infantile, 14 ENFL5 epilepsy, nocturnal frontal lobe, type 5
Location	9q34.3      Physical location : 138.594.030 - 138.684.992
Synonym name	sequence like a calcium-activated K channel
Synonym symbol(s)	KCa4.1, KIAA1422, FLJ41282, SLACK, bA100C15.2, Slo2.2

DNA

TYPE	functioning gene
STRUCTURE	90.96 kb     31 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

mode	radiation hybrid

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020822 31 - 4782 NP_065873 - 1235 - 2010 20512134 NM_001272003 31 - 4696 NP_001258932 - 1211 - 2010 20512134

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Homo sapiens Hearing/Equilibrium ear inner cochlea   highly Nervous brain       highly Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous autonomous     highly Homo sapiens Adult Nervous central     highly Homo sapiens Adult Nervous peripherous     highly Homo sapiens Adult

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Nervous neuron Homo sapiens Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain, liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two 'regulator of K(+) conductance' (RCK) domains within its C- terminus, domains likely involved in Na(+) binding and channel gating, and specific lysines that are involved in INPP5J binding
	extended cytoplasmic domain containing 913 AAs

HOMOLOGY

Homologene

FAMILY	SLO family of high-conductance potassium channels
	calcium-activated subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in calcium-activated potassium ion transport
	KCNT2, KCNT1 may contribute to the resting potentials of cells and control their basal level of excitability
	regulate the accuracy of timing of auditory neurons
	may play an important role in pathological conditions during which there is an increase in the intracellular concentrations of both acid and Na(+), such as in ischemia/hypoxia
	encodes a Na(+)-activated K(+) channel and is expressed in many different types of neurons
	regulates the rate of bursting and enhances the accuracy with which action potentials lock to incoming stimuli
	in addition to regulating ion flux, KCNT1 has a non-conducting function
	KCNT2, KCNT1 control basal excitability and are involved in cell volume regulation
	emerging role of KCNT1 channels in intellectual disability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

facilitated diffusion transport

PATHWAY

metabolism

signaling

a component

KCNT1 and KCNT2 subunits coassemble to form heteromeric channels that differ from the homomers in their unitary conductance, kinetic behavior, subcellular localization, and response to activation of protein kinase C

INTERACTION

DNA

RNA

small molecule

protein	interaction of KCNT1 channels with FMR1 serves to regulate the proposed functions of FMR1 in mRNA trafficking and translation
	INPP5J is in addition a novel regulator of the activity of KCNT1 and KCNT2 channels
	interact directly with the fragile X mental retardation protein (FMR1) and I KNa is reduced in animal models of Fragile X syndrome that lack Fmrp

cell & other

REGULATION

activated by

calcium Ca2+

Other

unlike PRKCG, phosphorylation by PRKACA does not acutely modulate the function and gating activation kinetics of KCNT1 channels

ASSOCIATED DISORDERS

corresponding disease(s)

ENFL5 , EIEE14

Susceptibility

to non-familial Brugada syndrome

Variant & Polymorphism other	de novo mutations in patients with non-familial Brugada syndrome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS