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Q5JUK3 (KCNT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium channel subfamily T member 1
Alternative name(s):
KCa4.1
Gene names
Name:KCNT1
Synonyms:KIAA1422
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1230 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) By similarity.

Subunit structure

Interacts with CRBN via its cytoplasmic C-terminus By similarity.

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity.

Tissue specificity

Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. Ref.3

Post-translational modification

Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity By similarity.

Involvement in disease

Epileptic encephalopathy, early infantile, 14 (EIEE14) [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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily. [View classification]

Contains 1 RCK N-terminal domain.

Sequence caution

The sequence BAA92660.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAI39240.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5JUK3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q5JUK3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MARAKLPRSP...DFSLDSSLSQ → MPLPDGARTP...GDPSFQNDDR
     1033-1033: E → EPHDLRAQ
Note: No experimental confirmation available.
Isoform 3 (identifier: Q5JUK3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MARAKLPRSP...DFSLDSSLSQ → MPLPDGARTP...GDPSFQNDDR
     1033-1033: E → EPHDLRAQ
     1142-1162: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12301230Potassium channel subfamily T member 1
PRO_0000054090

Regions

Topological domain1 – 9797Cytoplasmic Potential
Transmembrane98 – 11821Helical; Name=Segment S1; Potential
Topological domain119 – 15537Extracellular Potential
Transmembrane156 – 17621Helical; Name=Segment S2; Potential
Topological domain177 – 18711Cytoplasmic Potential
Transmembrane188 – 20821Helical; Name=Segment S3; Potential
Topological domain209 – 2135Extracellular Potential
Transmembrane214 – 22613Helical; Name=Segment S4; Potential
Topological domain227 – 25125Cytoplasmic Potential
Transmembrane252 – 27221Helical; Name=Segment S5; Potential
Topological domain273 – 2819Extracellular Potential
Intramembrane282 – 30221Pore-forming; Potential
Topological domain303 – 3042Extracellular Potential
Transmembrane305 – 32521Helical; Name=Segment S6; Potential
Topological domain326 – 1230905Cytoplasmic Potential
Domain475 – 596122RCK N-terminal

Amino acid modifications

Glycosylation1331N-linked (GlcNAc...) Potential
Glycosylation1371N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 6666MARAK…SSLSQ → MPLPDGARTPGGVCREARGG GYTNRTFEFDDGQCAPRRPC AGDGALLDTAGFKMSDLDSE VLPLPPRYRFRDLLLGDPSF QNDDR in isoform 2 and isoform 3.
VSP_015470
Alternative sequence10331E → EPHDLRAQ in isoform 2 and isoform 3.
VSP_015471
Alternative sequence1142 – 116221Missing in isoform 3.
VSP_044476
Natural variant3791R → Q in ENFL5. Ref.4
VAR_069311
Natural variant4091R → Q in EIEE14; gain-of-function mutation. Ref.5
VAR_069312
Natural variant4551R → H in EIEE14. Ref.5
VAR_069313
Natural variant7411I → M in EIEE14. Ref.5
VAR_069314
Natural variant7771Y → H in ENFL5. Ref.4
VAR_069315
Natural variant8771M → I in ENFL5. Ref.4
VAR_069316
Natural variant9091R → C in ENFL5. Ref.4
VAR_069317
Natural variant9151A → T in EIEE14; gain-of-function mutation. Ref.5
VAR_069318

Experimental info

Sequence conflict6151A → V in AAI71770. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 30, 2005. Version 2.
Checksum: 482D70015434493E

FASTA1,230138,343
        10         20         30         40         50         60 
MARAKLPRSP SEGKAGPGGA PAGAAAPEEP HGLSPLLPAR GGGSVGSDVG QRLPVEDFSL 

        70         80         90        100        110        120 
DSSLSQVQVE FYVNENTFKE RLKLFFIKNQ RSSLRIRLFN FSLKLLTCLL YIVRVLLDDP 

       130        140        150        160        170        180 
ALGIGCWGCP KQNYSFNDSS SEINWAPILW VERKMTLWAI QVIVAIISFL ETMLLIYLSY 

       190        200        210        220        230        240 
KGNIWEQIFR VSFVLEMINT LPFIITIFWP PLRNLFIPVF LNCWLAKHAL ENMINDFHRA 

       250        260        270        280        290        300 
ILRTQSAMFN QVLILFCTLL CLVFTGTCGI QHLERAGENL SLLTSFYFCI VTFSTVGYGD 

       310        320        330        340        350        360 
VTPKIWPSQL LVVIMICVAL VVLPLQFEEL VYLWMERQKS GGNYSRHRAQ TEKHVVLCVS 

       370        380        390        400        410        420 
SLKIDLLMDF LNEFYAHPRL QDYYVVILCP TEMDVQVRRV LQIPLWSQRV IYLQGSALKD 

       430        440        450        460        470        480 
QDLMRAKMDN GEACFILSSR NEVDRTAADH QTILRAWAVK DFAPNCPLYV QILKPENKFH 

       490        500        510        520        530        540 
VKFADHVVCE EECKYAMLAL NCICPATSTL ITLLVHTSRG QEGQESPEQW QRMYGRCSGN 

       550        560        570        580        590        600 
EVYHIRMGDS KFFREYEGKS FTYAAFHAHK KYGVCLIGLK REDNKSILLN PGPRHILAAS 

       610        620        630        640        650        660 
DTCFYINITK EENSAFIFKQ EEKRKKRAFS GQGLHEGPAR LPVHSIIASM GTVAMDLQGT 

       670        680        690        700        710        720 
EHRPTQSGGG GGGSKLALPT ENGSGSRRPS IAPVLELADS SALLPCDLLS DQSEDEVTPS 

       730        740        750        760        770        780 
DDEGLSVVEY VKGYPPNSPY IGSSPTLCHL LPVKAPFCCL RLDKGCKHNS YEDAKAYGFK 

       790        800        810        820        830        840 
NKLIIVSAET AGNGLYNFIV PLRAYYRSRK ELNPIVLLLD NKPDHHFLEA ICCFPMVYYM 

       850        860        870        880        890        900 
EGSVDNLDSL LQCGIIYADN LVVVDKESTM SAEEDYMADA KTIVNVQTMF RLFPSLSITT 

       910        920        930        940        950        960 
ELTHPSNMRF MQFRAKDSYS LALSKLEKRE RENGSNLAFM FRLPFAAGRV FSISMLDTLL 

       970        980        990       1000       1010       1020 
YQSFVKDYMI TITRLLLGLD TTPGSGYLCA MKITEGDLWI RTYGRLFQKL CSSSAEIPIG 

      1030       1040       1050       1060       1070       1080 
IYRTESHVFS TSESQISVNV EDCEDTREVK GPWGSRAGTG GSSQGRHTGG GDPAEHPLLR 

      1090       1100       1110       1120       1130       1140 
RKSLQWARRL SRKAPKQAGR AAAAEWISQQ RLSLYRRSER QELSELVKNR MKHLGLPTTG 

      1150       1160       1170       1180       1190       1200 
YEDVANLTAS DVMNRVNLGY LQDEMNDHQN TLSYVLINPP PDTRLEPSDI VYLIRSDPLA 

      1210       1220       1230 
HVASSSQSRK SSCSHKLSSC NPETRDETQL 

« Hide

Isoform 2 [UniParc].

Checksum: D6F9FCC8D1383EE6
Show »

FASTA1,256142,004
Isoform 3 [UniParc].

Checksum: AACACE2A0A39A693
Show »

FASTA1,235139,700

References

« Hide 'large scale' references
[1]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 1).
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Testis.
[3]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1103 (ISOFORM 2), TISSUE SPECIFICITY.
Tissue: Brain.
[4]"Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy."
Heron S.E., Smith K.R., Bahlo M., Nobili L., Kahana E., Licchetta L., Oliver K.L., Mazarib A., Afawi Z., Korczyn A., Plazzi G., Petrou S., Berkovic S.F., Scheffer I.E., Dibbens L.M.
Nat. Genet. 44:1188-1190(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ENFL5 GLN-379; HIS-777; ILE-877 AND CYS-909.
[5]"De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy."
Barcia G., Fleming M.R., Deligniere A., Gazula V.R., Brown M.R., Langouet M., Chen H., Kronengold J., Abhyankar A., Cilio R., Nitschke P., Kaminska A., Boddaert N., Casanova J.L., Desguerre I., Munnich A., Dulac O., Kaczmarek L.K., Colleaux L., Nabbout R.
Nat. Genet. 44:1255-1259(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE14 GLN-409; HIS-455; MET-741 AND THR-915, CHARACTERIZATION OF VARIANTS EIEE14 GLN-409 AND THR-915.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL158822 Genomic DNA. Translation: CAI39240.1. Different initiation.
BC136618 mRNA. Translation: AAI36619.1.
BC171770 mRNA. Translation: AAI71770.1.
AB037843 mRNA. Translation: BAA92660.1. Different initiation.
RefSeqNP_065873.2. NM_020822.2.
UniGeneHs.104950.

3D structure databases

ProteinModelPortalQ5JUK3.
SMRQ5JUK3. Positions 254-332, 339-655, 776-1023.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000298480.

Chemistry

GuidetoPHARMACOLOGY385.

PTM databases

PhosphoSiteQ5JUK3.

Polymorphism databases

DMDM73920089.

Proteomic databases

PaxDbQ5JUK3.
PRIDEQ5JUK3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263604; ENSP00000263604; ENSG00000107147. [Q5JUK3-1]
ENST00000298480; ENSP00000298480; ENSG00000107147. [Q5JUK3-2]
ENST00000371757; ENSP00000360822; ENSG00000107147. [Q5JUK3-3]
GeneID57582.
KEGGhsa:57582.
UCSCuc011mdq.2. human. [Q5JUK3-3]

Organism-specific databases

CTD57582.
GeneCardsGC09P138594.
HGNCHGNC:18865. KCNT1.
HPAHPA059880.
MIM608167. gene.
614959. phenotype.
615005. phenotype.
neXtProtNX_Q5JUK3.
Orphanet98784. Autosomal dominant nocturnal frontal lobe epilepsy.
293181. Malignant migrating partial seizures of infancy.
PharmGKBPA38725.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1226.
HOGENOMHOG000231460.
HOVERGENHBG055190.
InParanoidQ5JUK3.
KOK04946.
OMALANNCLC.
PhylomeDBQ5JUK3.
TreeFamTF314283.

Gene expression databases

ArrayExpressQ5JUK3.
BgeeQ5JUK3.
CleanExHS_KCNT1.
GenevestigatorQ5JUK3.

Family and domain databases

Gene3D3.40.50.720. 1 hit.
InterProIPR013099. 2pore_dom_K_chnl_dom.
IPR003929. K_chnl_Ca-activ_BK_asu.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamPF03493. BK_channel_a. 1 hit.
PF07885. Ion_trans_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKCNT1.
GenomeRNAi57582.
NextBio64138.
PROQ5JUK3.
SOURCESearch...

Entry information

Entry nameKCNT1_HUMAN
AccessionPrimary (citable) accession number: Q5JUK3
Secondary accession number(s): B7ZVY4, B9EGP2, Q9P2C5
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: April 16, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM