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Q5JUK3

- KCNT1_HUMAN

UniProt

Q5JUK3 - KCNT1_HUMAN

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
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (30 Aug 2005)
      Previous versions | rss
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    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: InterPro
    2. voltage-gated potassium channel activity Source: RefGenome

    GO - Biological processi

    1. potassium ion transmembrane transport Source: RefGenome

    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. membrane Source: InterPro
    2. voltage-gated potassium channel complex Source: RefGenome

    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

    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.
    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.
    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.

    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]
    RefSeqiNP_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 ]
    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 ]
    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.
    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

    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 1, 2014
    This is version 102 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