KCNT1
entrez
57582
canonical
uniprot
Q5JUK3
canonical
ensembl
ENSG00000107147
resolver
ensp
ENSP00000263604
resolver
ensp
ENSP00000360822
resolver
ensp
ENSP00000486374
resolver
ensp
ENSP00000502322
resolver
enst
ENST00000263604
resolver
enst
ENST00000676421
resolver
genesymbol
KCNT1
resolver
genesymbol_syn
KIAA1422
resolver
genesymbol_syn
SLACK
resolver
genesymbol_syn
Slo2.2
resolver
hgnc
HGNC:18865
resolver
uniprot
A0A0R4J2E0
resolver
uniprot
A0A6Q8PGM3
resolver
uniprot
B3KXF7
resolver
uniprot
B7ZVY4
resolver
uniprot
B9EGP2
resolver
uniprot
G5E9V0
resolver
uniprot
Q9P2C5
resolver
uniprot_entry
A0A0R4J2E0_HUMAN
resolver
uniprot_entry
A0A6Q8PGM3_HUMAN
resolver
uniprot_entry
KCNT1_HUMAN
resolver
uniprot_sec
B3KXF7
resolver
uniprot_sec
B7ZVY4
resolver
uniprot_sec
B9EGP2
resolver
uniprot_sec
G5E9V0
resolver
uniprot_sec
Q9P2C5
resolver
activity_regulation
ACTIVITY REGULATION: Activated by high intracellular Na(+) (PubMed:37494189). In addition to activation by Na(+), is cooperatively activated by intracellular Cl(-) levels (By similarity). Inhibited by Zn(2+) (PubMed:37494189). Activated upon stimulation of G protein coupled receptors, such as CHRM1 and GRIA1 (By similarity). {ECO:0000250|UniProtKB:Q9Z258, ECO:0000269|PubMed:37494189}.
uniprot
proteins
amino_acid_sequence
MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSLDSSLSQVQVEFYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDPALGIGCWGCPKQNYSFNDSSSEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSYKGNIWEQIFRVSFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWLAKHALENMINDFHRAILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGDVTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQTEKHVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKDQDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFHVKFADHVVCEEECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGNEVYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAASDTCFYINITKEENSAFIFKQEEKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGTEHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADSSALLPCDLLSDQSEDEVTPSDDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNSYEDAKAYGFKNKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYMEGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITTELTHPSNMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLLYQSFVKDYMITITRLLLGLDTTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIGIYRTESHVFSTSESQISVNVEDCEDTREVKGPWGSRAGTGGSSQGRHTGGGDPAEHPLLRRKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSERQELSELVKNRMKHLGLPTTGYEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIRSDPLAHVASSSQSRKSSCSHKLSSCNPETRDETQL
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959]: A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. {ECO:0000269|PubMed:23086397, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:24029078, ECO:0000269|PubMed:24463883, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]: An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. {ECO:0000269|PubMed:23086396}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sodium-activated K(+) channel (PubMed:37494189). Acts as an important mediator of neuronal membrane excitability (PubMed:37494189). Contributes to the delayed outward currents (By similarity). Regulates neuronal bursting in sensory neurons (By similarity). Contributes to synaptic development and plasticity (By similarity). {ECO:0000250|UniProtKB:Q6ZPR4, ECO:0000250|UniProtKB:Q9Z258, ECO:0000269|PubMed:37494189}.
uniprot
proteins
mass_dalton
138343
uniprot
proteins
mutagenesis
MUTAGEN 315; /note="M->L: Reduced the potency of the agonist C23 by 7-8 fold."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 319; /note="A->T: Reduced the potency of the agonist C23 by 7-8 fold."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 327; /note="F->A: Reduced the potency of the agonist C23 by 28 fold."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 541; /note="E->D,N,A: Dramatically reduced the Na(+) sensitivity of KCNT1."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 758..759; /note="CC->AA: Decreased inhibition by Zn(2+)."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 769; /note="N->A: Reduced the Na(+) sensitivity of KCNT1."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 777; /note="Y->F: Reduced the Na(+) sensitivity of KCNT1."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 820; /note="D->N: Dramatically reduced the Na(+) sensitivity of KCNT1."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 865; /note="D->A: Dramatically reduced the Na(+) sensitivity of KCNT1."; /evidence="ECO:0000269|PubMed:37494189"; MUTAGEN 873..876; /note="EEDY->AAAA: Dramatically reduced the Na(+) sensitivity of KCNT1."; /evidence="ECO:0000269|PubMed:37494189
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity. {ECO:0000250|UniProtKB:Q9Z258}.
uniprot
proteins
protein_family
Calcium-activated (TC 1.A.1.3) subfamily
uniprot
proteins
protein_family
KCa4.1/KCNT1 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20512134
uniprot
proteins
pubmed
23086396
uniprot
proteins
pubmed
23086397
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
24029078
uniprot
proteins
pubmed
24463883
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
37494189
uniprot
proteins
sequence_length
1230
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9Z258}; Multi-pass membrane protein {ECO:0000269|PubMed:37494189}.
uniprot
proteins
transmembrane_region
TRANSMEM 94..126; /note="Helical; Name=Segment S1"; /evidence="ECO:0000269|PubMed:23086396, ECO:0007744|PDB:8HIR"; TRANSMEM 154..178; /note="Helical; Name=Segment S2"; /evidence="ECO:0000269|PubMed:23086396, ECO:0007744|PDB:8HIR"; TRANSMEM 193..208; /note="Helical; Name=Segment S3"; /evidence="ECO:0000269|PubMed:23086396, ECO:0007744|PDB:8HIR"; TRANSMEM 216..233; /note="Helical; Name=Segment S4"; /evidence="ECO:0000269|PubMed:23086396, ECO:0007744|PDB:8HIR"; TRANSMEM 247..274; /note="Helical; Name=Segment S5"; /evidence="ECO:0000305"; TRANSMEM 305..338; /note="Helical; Name=Segment S6"; /evidence="ECO:0000269|PubMed:23086396, ECO:0007744|PDB:8HIR
uniprot
proteins