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Q5JUK3

- KCNT1_HUMAN

UniProt

Q5JUK3 - KCNT1_HUMAN

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Protein

Potassium channel subfamily T member 1

Gene
KCNT1, KIAA1422
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.

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 9797Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei98 – 11821Helical; Name=Segment S1; Reviewed predictionAdd
BLAST
Topological domaini119 – 15537Extracellular Reviewed predictionAdd
BLAST
Transmembranei156 – 17621Helical; Name=Segment S2; Reviewed predictionAdd
BLAST
Topological domaini177 – 18711Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei188 – 20821Helical; Name=Segment S3; Reviewed predictionAdd
BLAST
Topological domaini209 – 2135Extracellular Reviewed prediction
Transmembranei214 – 22613Helical; Name=Segment S4; Reviewed predictionAdd
BLAST
Topological domaini227 – 25125Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei252 – 27221Helical; Name=Segment S5; Reviewed predictionAdd
BLAST
Topological domaini273 – 2819Extracellular Reviewed prediction
Intramembranei282 – 30221Pore-forming; Reviewed predictionAdd
BLAST
Topological domaini303 – 3042Extracellular Reviewed prediction
Transmembranei305 – 32521Helical; Name=Segment S6; Reviewed predictionAdd
BLAST
Topological domaini326 – 1230905Cytoplasmic Reviewed predictionAdd
BLAST

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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...) Reviewed prediction
Glycosylationi137 – 1371N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

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

ArrayExpressiQ5JUK3.
BgeeiQ5JUK3.
CleanExiHS_KCNT1.
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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
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

MARAKLPRSP SEGKAGPGGA PAGAAAPEEP HGLSPLLPAR GGGSVGSDVG     50
QRLPVEDFSL DSSLSQVQVE FYVNENTFKE RLKLFFIKNQ RSSLRIRLFN 100
FSLKLLTCLL YIVRVLLDDP ALGIGCWGCP KQNYSFNDSS SEINWAPILW 150
VERKMTLWAI QVIVAIISFL ETMLLIYLSY KGNIWEQIFR VSFVLEMINT 200
LPFIITIFWP PLRNLFIPVF LNCWLAKHAL ENMINDFHRA ILRTQSAMFN 250
QVLILFCTLL CLVFTGTCGI QHLERAGENL SLLTSFYFCI VTFSTVGYGD 300
VTPKIWPSQL LVVIMICVAL VVLPLQFEEL VYLWMERQKS GGNYSRHRAQ 350
TEKHVVLCVS SLKIDLLMDF LNEFYAHPRL QDYYVVILCP TEMDVQVRRV 400
LQIPLWSQRV IYLQGSALKD QDLMRAKMDN GEACFILSSR NEVDRTAADH 450
QTILRAWAVK DFAPNCPLYV QILKPENKFH VKFADHVVCE EECKYAMLAL 500
NCICPATSTL ITLLVHTSRG QEGQESPEQW QRMYGRCSGN EVYHIRMGDS 550
KFFREYEGKS FTYAAFHAHK KYGVCLIGLK REDNKSILLN PGPRHILAAS 600
DTCFYINITK EENSAFIFKQ EEKRKKRAFS GQGLHEGPAR LPVHSIIASM 650
GTVAMDLQGT EHRPTQSGGG GGGSKLALPT ENGSGSRRPS IAPVLELADS 700
SALLPCDLLS DQSEDEVTPS DDEGLSVVEY VKGYPPNSPY IGSSPTLCHL 750
LPVKAPFCCL RLDKGCKHNS YEDAKAYGFK NKLIIVSAET AGNGLYNFIV 800
PLRAYYRSRK ELNPIVLLLD NKPDHHFLEA ICCFPMVYYM EGSVDNLDSL 850
LQCGIIYADN LVVVDKESTM SAEEDYMADA KTIVNVQTMF RLFPSLSITT 900
ELTHPSNMRF MQFRAKDSYS LALSKLEKRE RENGSNLAFM FRLPFAAGRV 950
FSISMLDTLL YQSFVKDYMI TITRLLLGLD TTPGSGYLCA MKITEGDLWI 1000
RTYGRLFQKL CSSSAEIPIG IYRTESHVFS TSESQISVNV EDCEDTREVK 1050
GPWGSRAGTG GSSQGRHTGG GDPAEHPLLR RKSLQWARRL SRKAPKQAGR 1100
AAAAEWISQQ RLSLYRRSER QELSELVKNR MKHLGLPTTG YEDVANLTAS 1150
DVMNRVNLGY LQDEMNDHQN TLSYVLINPP PDTRLEPSDI VYLIRSDPLA 1200
HVASSSQSRK SSCSHKLSSC NPETRDETQL 1230

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.

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. VSP_015470Add
BLAST
Alternative sequencei1 – 6666MARAK…SSLSQ → MPLPDGARTPGGVCREARGG GYTNRTFEFDDGQCAPR in isoform 4. VSP_055700Add
BLAST
Alternative sequencei266 – 2661G → GGCR in isoform 4. VSP_055701
Alternative sequencei1033 – 10331E → EPHDLRAQ in isoform 2, isoform 3 and isoform 4. VSP_015471
Alternative sequencei1142 – 116221Missing in isoform 3. VSP_044476Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti107 – 1071T → I in BAG54469. 1 Publication
Sequence conflicti498 – 4981L → P in BAG54469. 1 Publication
Sequence conflicti615 – 6151A → V in AAI71770. 1 Publication
Sequence conflicti822 – 8221K → E in BAG54469. 1 Publication
Sequence conflicti969 – 9691M → K in BAG54469. 1 Publication

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]
RefSeqiNP_065873.2. NM_020822.2. [Q5JUK3-3]
UniGeneiHs.104950.

Genome annotation databases

EnsembliENST00000263604; ENSP00000263604; ENSG00000107147. [Q5JUK3-1]
ENST00000298480; ENSP00000298480; ENSG00000107147. [Q5JUK3-2]
ENST00000371757; ENSP00000360822; ENSG00000107147. [Q5JUK3-3]
ENST00000487664; ENSP00000417851; ENSG00000107147.
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 ]
RefSeqi 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 ]
ENST00000298480 ; ENSP00000298480 ; ENSG00000107147 . [Q5JUK3-2 ]
ENST00000371757 ; ENSP00000360822 ; ENSG00000107147 . [Q5JUK3-3 ]
ENST00000487664 ; ENSP00000417851 ; ENSG00000107147 .
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.
HOGENOMi HOG000231460.
HOVERGENi HBG055190.
InParanoidi Q5JUK3.
KOi K04946.
OMAi LANNCLC.
PhylomeDBi Q5JUK3.
TreeFami TF314283.

Miscellaneous databases

GeneWikii KCNT1.
GenomeRNAii 57582.
NextBioi 64138.
PROi Q5JUK3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q5JUK3.
Bgeei Q5JUK3.
CleanExi HS_KCNT1.
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: September 3, 2014
This is version 101 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

Dasty 3

Similar proteinsi