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Q5JUK3

- KCNT1_HUMAN

UniProt

Q5JUK3 - KCNT1_HUMAN

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Protein

Potassium channel subfamily T member 1

Gene

KCNT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.By similarity

GO - Molecular functioni

  1. calcium-activated potassium channel activity Source: RefGenome
  2. voltage-gated potassium channel activity Source: RefGenome

GO - Biological processi

  1. potassium ion transmembrane transport Source: RefGenome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Calcium, Potassium

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium channel subfamily T member 1
Alternative name(s):
KCa4.1
Gene namesi
Name:KCNT1
Synonyms:KIAA1422
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:18865. KCNT1.

Subcellular locationi

Cell membrane By similarity; Multi-pass membrane protein By similarity

GO - Cellular componenti

  1. voltage-gated potassium channel complex Source: RefGenome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti409 – 4091R → Q in EIEE14; gain-of-function mutation. 1 Publication
VAR_069312
Natural varianti455 – 4551R → H in EIEE14. 1 Publication
VAR_069313
Natural varianti741 – 7411I → M in EIEE14. 1 Publication
VAR_069314
Natural varianti915 – 9151A → T in EIEE14; gain-of-function mutation. 1 Publication
VAR_069318
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti379 – 3791R → Q in ENFL5. 1 Publication
VAR_069311
Natural varianti777 – 7771Y → H in ENFL5. 1 Publication
VAR_069315
Natural varianti877 – 8771M → I in ENFL5. 1 Publication
VAR_069316
Natural varianti909 – 9091R → C in ENFL5. 1 Publication
VAR_069317

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi614959. phenotype.
615005. phenotype.
Orphaneti98784. Autosomal dominant nocturnal frontal lobe epilepsy.
293181. Malignant migrating partial seizures of infancy.
PharmGKBiPA38725.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12301230Potassium channel subfamily T member 1PRO_0000054090Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi133 – 1331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi137 – 1371N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

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

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ5JUK3.
PRIDEiQ5JUK3.

PTM databases

PhosphoSiteiQ5JUK3.

Expressioni

Tissue specificityi

Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle.1 Publication

Gene expression databases

BgeeiQ5JUK3.
CleanExiHS_KCNT1.
ExpressionAtlasiQ5JUK3. baseline.
GenevestigatoriQ5JUK3.

Organism-specific databases

HPAiHPA059880.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000298480.

Structurei

3D structure databases

ProteinModelPortaliQ5JUK3.
SMRiQ5JUK3. Positions 246-655, 776-1023.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 9797CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini119 – 15537ExtracellularSequence AnalysisAdd
BLAST
Topological domaini177 – 18711CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini209 – 2135ExtracellularSequence Analysis
Topological domaini227 – 25125CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini273 – 2819ExtracellularSequence Analysis
Topological domaini303 – 3042ExtracellularSequence Analysis
Topological domaini326 – 1230905CytoplasmicSequence AnalysisAdd
BLAST

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei282 – 30221Pore-formingSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei98 – 11821Helical; Name=Segment S1Sequence AnalysisAdd
BLAST
Transmembranei156 – 17621Helical; Name=Segment S2Sequence AnalysisAdd
BLAST
Transmembranei188 – 20821Helical; Name=Segment S3Sequence AnalysisAdd
BLAST
Transmembranei214 – 22613Helical; Name=Segment S4Sequence AnalysisAdd
BLAST
Transmembranei252 – 27221Helical; Name=Segment S5Sequence AnalysisAdd
BLAST
Transmembranei305 – 32521Helical; Name=Segment S6Sequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini475 – 596122RCK N-terminalAdd
BLAST

Sequence similaritiesi

Contains 1 RCK N-terminal domain.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
GeneTreeiENSGT00530000063026.
HOGENOMiHOG000231460.
HOVERGENiHBG055190.
InParanoidiQ5JUK3.
KOiK04946.
OMAiLANNCLC.
PhylomeDBiQ5JUK3.
TreeFamiTF314283.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR013099. 2pore_dom_K_chnl_dom.
IPR003929. K_chnl_Ca-activ_BK_asu.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF03493. BK_channel_a. 1 hit.
PF07885. Ion_trans_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q5JUK3-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MARAKLPRSP SEGKAGPGGA PAGAAAPEEP HGLSPLLPAR GGGSVGSDVG
60 70 80 90 100
QRLPVEDFSL DSSLSQVQVE FYVNENTFKE RLKLFFIKNQ RSSLRIRLFN
110 120 130 140 150
FSLKLLTCLL YIVRVLLDDP ALGIGCWGCP KQNYSFNDSS SEINWAPILW
160 170 180 190 200
VERKMTLWAI QVIVAIISFL ETMLLIYLSY KGNIWEQIFR VSFVLEMINT
210 220 230 240 250
LPFIITIFWP PLRNLFIPVF LNCWLAKHAL ENMINDFHRA ILRTQSAMFN
260 270 280 290 300
QVLILFCTLL CLVFTGTCGI QHLERAGENL SLLTSFYFCI VTFSTVGYGD
310 320 330 340 350
VTPKIWPSQL LVVIMICVAL VVLPLQFEEL VYLWMERQKS GGNYSRHRAQ
360 370 380 390 400
TEKHVVLCVS SLKIDLLMDF LNEFYAHPRL QDYYVVILCP TEMDVQVRRV
410 420 430 440 450
LQIPLWSQRV IYLQGSALKD QDLMRAKMDN GEACFILSSR NEVDRTAADH
460 470 480 490 500
QTILRAWAVK DFAPNCPLYV QILKPENKFH VKFADHVVCE EECKYAMLAL
510 520 530 540 550
NCICPATSTL ITLLVHTSRG QEGQESPEQW QRMYGRCSGN EVYHIRMGDS
560 570 580 590 600
KFFREYEGKS FTYAAFHAHK KYGVCLIGLK REDNKSILLN PGPRHILAAS
610 620 630 640 650
DTCFYINITK EENSAFIFKQ EEKRKKRAFS GQGLHEGPAR LPVHSIIASM
660 670 680 690 700
GTVAMDLQGT EHRPTQSGGG GGGSKLALPT ENGSGSRRPS IAPVLELADS
710 720 730 740 750
SALLPCDLLS DQSEDEVTPS DDEGLSVVEY VKGYPPNSPY IGSSPTLCHL
760 770 780 790 800
LPVKAPFCCL RLDKGCKHNS YEDAKAYGFK NKLIIVSAET AGNGLYNFIV
810 820 830 840 850
PLRAYYRSRK ELNPIVLLLD NKPDHHFLEA ICCFPMVYYM EGSVDNLDSL
860 870 880 890 900
LQCGIIYADN LVVVDKESTM SAEEDYMADA KTIVNVQTMF RLFPSLSITT
910 920 930 940 950
ELTHPSNMRF MQFRAKDSYS LALSKLEKRE RENGSNLAFM FRLPFAAGRV
960 970 980 990 1000
FSISMLDTLL YQSFVKDYMI TITRLLLGLD TTPGSGYLCA MKITEGDLWI
1010 1020 1030 1040 1050
RTYGRLFQKL CSSSAEIPIG IYRTESHVFS TSESQISVNV EDCEDTREVK
1060 1070 1080 1090 1100
GPWGSRAGTG GSSQGRHTGG GDPAEHPLLR RKSLQWARRL SRKAPKQAGR
1110 1120 1130 1140 1150
AAAAEWISQQ RLSLYRRSER QELSELVKNR MKHLGLPTTG YEDVANLTAS
1160 1170 1180 1190 1200
DVMNRVNLGY LQDEMNDHQN TLSYVLINPP PDTRLEPSDI VYLIRSDPLA
1210 1220 1230
HVASSSQSRK SSCSHKLSSC NPETRDETQL

Note: No experimental confirmation available.

Length:1,230
Mass (Da):138,343
Last modified:August 30, 2005 - v2
Checksum:i482D70015434493E
GO
Isoform 2 (identifier: Q5JUK3-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:1,256
Mass (Da):142,004
Checksum:iD6F9FCC8D1383EE6
GO
Isoform 3 (identifier: Q5JUK3-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:1,235
Mass (Da):139,700
Checksum:iAACACE2A0A39A693
GO
Isoform 4 (identifier: Q5JUK3-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MARAKLPRSP...DFSLDSSLSQ → MPLPDGARTP...EFDDGQCAPR
     266-266: G → GGCR
     1033-1033: E → EPHDLRAQ

Note: No experimental confirmation available.

Show »
Length:1,211
Mass (Da):136,987
Checksum:i781214BF3727177C
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti107 – 1071T → I in BAG54469. (PubMed:14702039)Curated
Sequence conflicti498 – 4981L → P in BAG54469. (PubMed:14702039)Curated
Sequence conflicti615 – 6151A → V in AAI71770. (PubMed:15489334)Curated
Sequence conflicti822 – 8221K → E in BAG54469. (PubMed:14702039)Curated
Sequence conflicti969 – 9691M → K in BAG54469. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti379 – 3791R → Q in ENFL5. 1 Publication
VAR_069311
Natural varianti409 – 4091R → Q in EIEE14; gain-of-function mutation. 1 Publication
VAR_069312
Natural varianti455 – 4551R → H in EIEE14. 1 Publication
VAR_069313
Natural varianti741 – 7411I → M in EIEE14. 1 Publication
VAR_069314
Natural varianti777 – 7771Y → H in ENFL5. 1 Publication
VAR_069315
Natural varianti877 – 8771M → I in ENFL5. 1 Publication
VAR_069316
Natural varianti909 – 9091R → C in ENFL5. 1 Publication
VAR_069317
Natural varianti915 – 9151A → T in EIEE14; gain-of-function mutation. 1 Publication
VAR_069318

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6666MARAK…SSLSQ → MPLPDGARTPGGVCREARGG GYTNRTFEFDDGQCAPRRPC AGDGALLDTAGFKMSDLDSE VLPLPPRYRFRDLLLGDPSF QNDDR in isoform 2 and isoform 3. 2 PublicationsVSP_015470Add
BLAST
Alternative sequencei1 – 6666MARAK…SSLSQ → MPLPDGARTPGGVCREARGG GYTNRTFEFDDGQCAPR in isoform 4. 1 PublicationVSP_055700Add
BLAST
Alternative sequencei266 – 2661G → GGCR in isoform 4. 1 PublicationVSP_055701
Alternative sequencei1033 – 10331E → EPHDLRAQ in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_015471
Alternative sequencei1142 – 116221Missing in isoform 3. 1 PublicationVSP_044476Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK127272 mRNA. Translation: BAG54469.1.
AL158822 Genomic DNA. No translation available.
CH471090 Genomic DNA. Translation: EAW88180.1.
BC136618 mRNA. Translation: AAI36619.1.
BC171770 mRNA. Translation: AAI71770.1.
AB037843 mRNA. Translation: BAA92660.1. Different initiation.
CCDSiCCDS35175.2. [Q5JUK3-3]
CCDS65188.1. [Q5JUK3-4]
RefSeqiNP_001258932.1. NM_001272003.1. [Q5JUK3-4]
NP_065873.2. NM_020822.2. [Q5JUK3-3]
UniGeneiHs.104950.

Genome annotation databases

EnsembliENST00000263604; ENSP00000263604; ENSG00000107147. [Q5JUK3-1]
ENST00000371757; ENSP00000360822; ENSG00000107147. [Q5JUK3-3]
ENST00000487664; ENSP00000417851; ENSG00000107147. [Q5JUK3-4]
GeneIDi57582.
KEGGihsa:57582.
UCSCiuc011mdq.2. human. [Q5JUK3-3]

Polymorphism databases

DMDMi73920089.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK127272 mRNA. Translation: BAG54469.1 .
AL158822 Genomic DNA. No translation available.
CH471090 Genomic DNA. Translation: EAW88180.1 .
BC136618 mRNA. Translation: AAI36619.1 .
BC171770 mRNA. Translation: AAI71770.1 .
AB037843 mRNA. Translation: BAA92660.1 . Different initiation.
CCDSi CCDS35175.2. [Q5JUK3-3 ]
CCDS65188.1. [Q5JUK3-4 ]
RefSeqi NP_001258932.1. NM_001272003.1. [Q5JUK3-4 ]
NP_065873.2. NM_020822.2. [Q5JUK3-3 ]
UniGenei Hs.104950.

3D structure databases

ProteinModelPortali Q5JUK3.
SMRi Q5JUK3. Positions 246-655, 776-1023.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000298480.

Chemistry

GuidetoPHARMACOLOGYi 385.

PTM databases

PhosphoSitei Q5JUK3.

Polymorphism databases

DMDMi 73920089.

Proteomic databases

PaxDbi Q5JUK3.
PRIDEi Q5JUK3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263604 ; ENSP00000263604 ; ENSG00000107147 . [Q5JUK3-1 ]
ENST00000371757 ; ENSP00000360822 ; ENSG00000107147 . [Q5JUK3-3 ]
ENST00000487664 ; ENSP00000417851 ; ENSG00000107147 . [Q5JUK3-4 ]
GeneIDi 57582.
KEGGi hsa:57582.
UCSCi uc011mdq.2. human. [Q5JUK3-3 ]

Organism-specific databases

CTDi 57582.
GeneCardsi GC09P138594.
HGNCi HGNC:18865. KCNT1.
HPAi HPA059880.
MIMi 608167. gene.
614959. phenotype.
615005. phenotype.
neXtProti NX_Q5JUK3.
Orphaneti 98784. Autosomal dominant nocturnal frontal lobe epilepsy.
293181. Malignant migrating partial seizures of infancy.
PharmGKBi PA38725.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1226.
GeneTreei ENSGT00530000063026.
HOGENOMi HOG000231460.
HOVERGENi HBG055190.
InParanoidi Q5JUK3.
KOi K04946.
OMAi LANNCLC.
PhylomeDBi Q5JUK3.
TreeFami TF314283.

Miscellaneous databases

GeneWikii KCNT1.
GenomeRNAii 57582.
NextBioi 35518241.
PROi Q5JUK3.
SOURCEi Search...

Gene expression databases

Bgeei Q5JUK3.
CleanExi HS_KCNT1.
ExpressionAtlasi Q5JUK3. baseline.
Genevestigatori Q5JUK3.

Family and domain databases

Gene3Di 3.40.50.720. 1 hit.
InterProi IPR013099. 2pore_dom_K_chnl_dom.
IPR003929. K_chnl_Ca-activ_BK_asu.
IPR016040. NAD(P)-bd_dom.
[Graphical view ]
Pfami PF03493. BK_channel_a. 1 hit.
PF07885. Ion_trans_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Hippocampus.
  2. "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.
    , 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].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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.
  5. "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.
  6. "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.
  7. Cited for: VARIANTS EIEE14 GLN-409; HIS-455; MET-741 AND THR-915, CHARACTERIZATION OF VARIANTS EIEE14 GLN-409 AND THR-915.

Entry informationi

Entry nameiKCNT1_HUMAN
AccessioniPrimary (citable) accession number: Q5JUK3
Secondary accession number(s): B3KXF7
, B7ZVY4, B9EGP2, G5E9V0, Q9P2C5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: October 29, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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