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Q86WV8

- Q86WV8_HUMAN

UniProt

Q86WV8 - Q86WV8_HUMAN

Protein
Submitted name:

Hamartin

Gene

TSC1

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 1 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 76 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Submitted name:
    HamartinImported
    Submitted name:
    Tuberous sclerosis 1Imported
    Gene namesi
    Name:TSC1Imported
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:12362. TSC1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37034.

    Structurei

    3D structure databases

    SMRiQ86WV8. Positions 85-263.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    HOVERGENiHBG054903.
    KOiK07206.

    Family and domain databases

    InterProiIPR016024. ARM-type_fold.
    IPR007483. Hamartin.
    [Graphical view]
    PANTHERiPTHR15154. PTHR15154. 1 hit.
    PfamiPF04388. Hamartin. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q86WV8-1 [UniParc]FASTAAdd to Basket

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    MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL    50
    ETSSQPALHI LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ 100
    PSWKHKLSQA PLLPSLLKCL KMDTDVVVLT TGVLVLITML PMIPQSGKQH 150
    LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL HASVYALFHR LYGMYPCNFV 200
    SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH ELDPRRWKRL 250
    ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT 300
    QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQVWCQLVC 350
    LLSPLLSGEA DPLGQI 366
    Length:366
    Mass (Da):41,155
    Last modified:June 1, 2003 - v1
    Checksum:i9DBE1D9A25B83618
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL445645 Genomic DNA. No translation available.
    BC047772 mRNA. Translation: AAH47772.1.
    BC070032 mRNA. Translation: AAH70032.1.
    RefSeqiNP_000359.1. NM_000368.4.
    UniGeneiHs.370854.

    Genome annotation databases

    EnsembliENST00000403810; ENSP00000386093; ENSG00000165699.
    GeneIDi7248.
    KEGGihsa:7248.
    UCSCiuc004cce.1. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL445645 Genomic DNA. No translation available.
    BC047772 mRNA. Translation: AAH47772.1 .
    BC070032 mRNA. Translation: AAH70032.1 .
    RefSeqi NP_000359.1. NM_000368.4.
    UniGenei Hs.370854.

    3D structure databases

    SMRi Q86WV8. Positions 85-263.
    ModBasei Search...
    MobiDBi Search...

    Protocols and materials databases

    DNASUi 7248.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000403810 ; ENSP00000386093 ; ENSG00000165699 .
    GeneIDi 7248.
    KEGGi hsa:7248.
    UCSCi uc004cce.1. human.

    Organism-specific databases

    CTDi 7248.
    HGNCi HGNC:12362. TSC1.
    PharmGKBi PA37034.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG054903.
    KOi K07206.

    Miscellaneous databases

    ChiTaRSi TSC1. human.
    GenomeRNAii 7248.
    NextBioi 28341.

    Family and domain databases

    InterProi IPR016024. ARM-type_fold.
    IPR007483. Hamartin.
    [Graphical view ]
    PANTHERi PTHR15154. PTHR15154. 1 hit.
    Pfami PF04388. Hamartin. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Gerhard D.S., Wagner L., Feingold E.A., Shenmen C.M., Grouse L.H., Schuler G., Klein S.L., Old S., Rasooly R., Good P., Guyer M., Peck A.M., Derge J.G., Lipman D., Collins F.S., Jang W., Sherry S., Feolo M.
      , Misquitta L., Lee E., Rotmistrovsky K., Greenhut S.F., Schaefer C.F., Buetow K., Bonner T.I., Haussler D., Kent J., Kiekhaus M., Furey T., Brent M., Prange C., Schreiber K., Shapiro N., Bhat N.K., Hopkins R.F., Hsie F., Driscoll T., Soares M.B., Casavant T.L., Scheetz T.E., Brown-stein M.J., Usdin T.B., Toshiyuki S., Carninci P., Piao Y., Dudekula D.B., Ko M.S., Kawakami K., Suzuki Y., Sugano S., Gruber C.E., Smith M.R., Simmons B., Moore T., Waterman R., Johnson S.L., Ruan Y., Wei C.L., Mathavan S., Gunaratne P.H., Wu J., Garcia A.M., Hulyk S.W., Fuh E., Yuan Y., Sneed A., Kowis C., Hodgson A., Muzny D.M., McPherson J., Gibbs R.A., Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., Whiting M., Madari A., Young A.C., Wetherby K.D., Granite S.J., Kwong P.N., Brinkley C.P., Pearson R.L., Bouffard G.G., Blakesly R.W., Green E.D., Dickson M.C., Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., Butterfield Y.S., Griffith M., Griffith O.L., Krzywinski M.I., Liao N., Morin R., Morrin R., Palmquist D., Petrescu A.S., Skalska U., Smailus D.E., Stott J.M., Schnerch A., Schein J.E., Jones S.J., Holt R.A., Baross A., Marra M.A., Clifton S., Makowski K.A., Bosak S., Malek J.
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: TestisImported and UterusImported.
    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., 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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    4. Ensembl
      Submitted (FEB-2012) to UniProtKB
      Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiQ86WV8_HUMAN
    AccessioniPrimary (citable) accession number: Q86WV8
    Entry historyi
    Integrated into UniProtKB/TrEMBL: June 1, 2003
    Last sequence update: June 1, 2003
    Last modified: October 1, 2014
    This is version 76 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiUnreviewed (UniProtKB/TrEMBL)
    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 proteomeImported

    External Data

    Dasty 3