Gene Gene information from NCBI Gene database.
Entrez ID 57582
Gene name Potassium sodium-activated channel subfamily T member 1
Gene symbol KCNT1
Synonyms (NCBI Gene)
DEE14EIEE14ENFL5KCa4.1KNa1.1SLACKSlo2.2bA100C15.2
Chromosome 9
Chromosome location 9q34.3
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, e
SNPs SNP information provided by dbSNP.
64
SNP ID Visualize variation Clinical significance Consequence
rs139076605 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant, 5 prime UTR variant
rs140367649 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, synonymous variant
rs141281093 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs142424896 G>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs142756900 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
73
miRTarBase ID miRNA Experiments Reference
MIRT1082467 hsa-miR-1343 CLIP-seq
MIRT1082468 hsa-miR-218 CLIP-seq
MIRT1082469 hsa-miR-219-2-3p CLIP-seq
MIRT1082470 hsa-miR-2964a-3p CLIP-seq
MIRT1082471 hsa-miR-3136-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005228 Function Intracellular sodium-activated potassium channel activity IBA
GO:0005228 Function Intracellular sodium-activated potassium channel activity IDA 37494189
GO:0005228 Function Intracellular sodium-activated potassium channel activity IEA
GO:0005267 Function Potassium channel activity IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608167 18865 ENSG00000107147
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JUK3
Protein name Potassium channel subfamily T member 1 (KCa4.1) (KNa1.1) (Sodium and chloride-activated ATP-sensitive potassium channel Slo2.2)
Protein 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 s
PDB 8HIR , 8HK6 , 8HKF , 8HKK , 8HKM , 8HKQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07885 Ion_trans_2 253 335 Ion channel Family
PF03493 BK_channel_a 477 579 Calcium-activated BK potassium channel alpha subunit Family
Tissue specificity TISSUE SPECIFICITY: Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO:0000269|PubMed:10718198}.
Sequence
MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSL
DSSLSQVQVEFYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDP
ALGIGCWGCPKQNYSFNDSSSEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSY
KGNIWEQIFRVSFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWLAKHALENMINDFHRA
ILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGD
VTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWM
ERQKSGGNYSRHRAQTEKHVVLCVS
SLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKD
QDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFH
VKFADHVVCEEECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGN
EVYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGL
KREDNKSILLNPGPRHILAAS
DTCFYINITKEENSAFIFKQEEKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGT
EHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADSSALLPCDLLSDQSEDEVTPS
DDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNSYEDAKAYGFK
NKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYM
EGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITT
ELTHPSNMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLL
YQSFVKDYMITITRLLLGLDTTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIG
IYRTESHVFSTSESQISVNVEDCEDTREVKGPWGSRAGTGGSSQGRHTGGGDPAEHPLLR
RKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSERQELSELVKNRMKHLGLPTTG
YEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIRSDPLA
HVASSSQSRKSSCSHKLSSCNPETRDETQL
Sequence length 1230
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4062
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nocturnal frontal lobe epilepsy 1 Likely pathogenic; Pathogenic rs1424788778 RCV005249026
Autosomal dominant nocturnal frontal lobe epilepsy 5 Pathogenic; Likely pathogenic rs587777264, rs397515403, rs1832838063, rs1060503696, rs150395210, rs1057518066, rs797044544, rs2490945732, rs2491046518, rs1554771476, rs866242631, rs886041691, rs2491046098, rs752514808, rs1057522978
View all (19 more)
RCV000627792
RCV002036798
RCV001911757
RCV001953798
RCV001953800
RCV002022823
RCV002003533
RCV000192060
RCV002988407
RCV003032091
RCV003042862
RCV000805872
RCV002519055
RCV003781111
RCV001865289
RCV000795380
RCV001383750
RCV000460553
RCV001058624
RCV000538183
RCV000117358
RCV000791441
RCV000546032
RCV000032797
RCV000032798
RCV000032799
RCV000697406
RCV001868375
RCV000820357
RCV002281580
RCV003128256
RCV001004662
RCV001071952
RCV001058382
RCV001057936
RCV001219954
RCV001207031
RCV000650650
RCV001296041
Childhood-onset epilepsy syndrome Likely pathogenic; Pathogenic rs397515407 RCV006257258
Developmental and epileptic encephalopathy, 14 Likely pathogenic; Pathogenic rs1554774322, rs143780942, rs587777264, rs2131497737, rs397515403, rs1832838063, rs1060503696, rs150395210, rs1057518066, rs1306973135, rs2490945732, rs2491046518, rs1554771476, rs2491023589, rs866242631
View all (29 more)
RCV001775325
RCV001797003
RCV000114361
RCV003314020
RCV002036798
RCV001911757
RCV001953798
RCV001953800
RCV002022823
RCV002003533
RCV002465466
RCV002988407
RCV003032091
RCV003042862
RCV003224969
RCV000805872
RCV001253472
RCV003781111
RCV004595402
RCV001865289
RCV000795380
RCV001383750
RCV000460553
RCV001058624
RCV004023331
RCV000538183
RCV000032793
RCV000032794
RCV000032795
RCV000032796
RCV001044165
RCV000813544
RCV000553512
RCV000590903
RCV000680018
RCV000697406
RCV001868375
RCV000820357
RCV000812238
RCV001004694
RCV001004697
RCV001004691
RCV001071952
RCV001058382
RCV001057936
RCV001089750
RCV001194603
RCV001219954
RCV001207031
RCV000077799
RCV001296041
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs7024528 RCV005905403
Clear cell carcinoma of kidney Likely benign rs774520067 RCV005927019
Colorectal cancer Benign; Likely benign rs55843930 RCV005869222
Congenital anomaly of kidney and urinary tract Uncertain significance rs1831785244 RCV005626345
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 26122718
Arterial calcification of infancy Associate 31653631
Arteriovenous Fistula Associate 31532509
Atherosclerosis Associate 36457109
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Associate 24279416, 26122718, 26140313
Body Dysmorphic Disorders Associate 26993267
Brain Diseases Associate 24120652, 26140313, 29186148, 31350261
Brugada Syndrome Associate 25339316
Cardiomyopathy Dilated Associate 31532509
Congenital Abnormalities Associate 37697770