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Q16650

- TBR1_HUMAN

UniProt

Q16650 - TBR1_HUMAN

Protein

T-box brain protein 1

Gene

TBR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 Nov 1997)
      Previous versions | rss
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    Functioni

    Probable transcriptional regulator involved in developmental processes. Required for normal brain development.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi213 – 393181T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. axon guidance Source: Ensembl
    2. brain development Source: ProtInc
    3. hindbrain development Source: Ensembl
    4. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    5. regulation of neuron projection development Source: Ensembl
    6. specification of organ identity Source: Ensembl
    7. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box brain protein 1
    Short name:
    T-brain-1
    Short name:
    TBR-1
    Alternative name(s):
    TES-56
    Gene namesi
    Name:TBR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:11590. TBR1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36354.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 682682T-box brain protein 1PRO_0000184457Add
    BLAST

    Proteomic databases

    PaxDbiQ16650.
    PRIDEiQ16650.

    PTM databases

    PhosphoSiteiQ16650.

    Expressioni

    Tissue specificityi

    Brain.

    Gene expression databases

    ArrayExpressiQ16650.
    BgeeiQ16650.
    CleanExiHS_TBR1.
    GenevestigatoriQ16650.

    Organism-specific databases

    HPAiCAB012279.

    Interactioni

    Subunit structurei

    Part of a complex containing CASK, TBR1 and TSPYL2; may modulate gene expression in response to neuronal synaptic activity.By similarity

    Protein-protein interaction databases

    BioGridi115942. 3 interactions.
    IntActiQ16650. 1 interaction.
    STRINGi9606.ENSP00000374205.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16650.
    SMRiQ16650. Positions 205-392.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi569 – 5735Poly-Ala

    Sequence similaritiesi

    Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG245070.
    HOGENOMiHOG000218633.
    HOVERGENiHBG000578.
    InParanoidiQ16650.
    KOiK10174.
    OMAiMFPYPSQ.
    OrthoDBiEOG7C2R14.
    PhylomeDBiQ16650.
    TreeFamiTF106341.

    Family and domain databases

    Gene3Di2.60.40.820. 1 hit.
    InterProiIPR008967. p53-like_TF_DNA-bd.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view]
    PANTHERiPTHR11267. PTHR11267. 1 hit.
    PfamiPF00907. T-box. 1 hit.
    [Graphical view]
    PRINTSiPR00937. TBOX.
    SMARTiSM00425. TBOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF49417. SSF49417. 1 hit.
    PROSITEiPS01283. TBOX_1. 1 hit.
    PS01264. TBOX_2. 1 hit.
    PS50252. TBOX_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q16650-1) [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

    MQLEHCLSPS IMLSKKFLNV SSSYPHSGGS ELVLHDHPII STTDNLERSS    50
    PLKKITRGMT NQSDTDNFPD SKDSPGDVQR SKLSPVLDGV SELRHSFDGS 100
    AADRYLLSQS SQPQSAATAP SAMFPYPGQH GPAHPAFSIG SPSRYMAHHP 150
    VITNGAYNSL LSNSSPQGYP TAGYPYPQQY GHSYQGAPFY QFSSTQPGLV 200
    PGKAQVYLCN RPLWLKFHRH QTEMIITKQG RRMFPFLSFN ISGLDPTAHY 250
    NIFVDVILAD PNHWRFQGGK WVPCGKADTN VQGNRVYMHP DSPNTGAHWM 300
    RQEISFGKLK LTNNKGASNN NGQMVVLQSL HKYQPRLHVV EVNEDGTEDT 350
    SQPGRVQTFT FPETQFIAVT AYQNTDITQL KIDHNPFAKG FRDNYDTIYT 400
    GCDMDRLTPS PNDSPRSQIV PGARYAMAGS FLQDQFVSNY AKARFHPGAG 450
    AGPGPGTDRS VPHTNGLLSP QQAEDPGAPS PQRWFVTPAN NRLDFAASAY 500
    DTATDFAGNA ATLLSYAAAG VKALPLQAAG CTGRPLGYYA DPSGWGARSP 550
    PQYCGTKSGS VLPCWPNSAA AAARMAGANP YLGEEAEGLA AERSPLPPGA 600
    AEDAKPKDLS DSSWIETPSS IKSIDSSDSG IYEQAKRRRI SPADTPVSES 650
    SSPLKSEVLA QRDCEKNCAK DISGYYGFYS HS 682
    Length:682
    Mass (Da):74,053
    Last modified:November 1, 1997 - v1
    Checksum:iE1C8D84206EFBBB5
    GO
    Isoform 2 (identifier: Q16650-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-287: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:395
    Mass (Da):42,332
    Checksum:iD47B8C24A3CD69FA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti619 – 6191S → P in BAG35462. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti289 – 2891H → Q.
    Corresponds to variant rs12994035 [ dbSNP | Ensembl ].
    VAR_052264

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 287287Missing in isoform 2. 1 PublicationVSP_056591Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U49250 mRNA. Translation: AAA92010.1.
    AK297438 mRNA. Translation: BAH12582.1.
    AK312567 mRNA. Translation: BAG35462.1.
    AK315865 mRNA. Translation: BAF98756.1.
    AK316161 mRNA. Translation: BAH14532.1.
    AC009487 Genomic DNA. Translation: AAY15017.1.
    BC029289 mRNA. Translation: AAH29289.1.
    BC104844 mRNA. Translation: AAI04845.1.
    BC113418 mRNA. Translation: AAI13419.1.
    CCDSiCCDS33310.1.
    RefSeqiNP_006584.1. NM_006593.2.
    UniGeneiHs.210862.

    Genome annotation databases

    EnsembliENST00000389554; ENSP00000374205; ENSG00000136535.
    ENST00000410035; ENSP00000387023; ENSG00000136535.
    GeneIDi10716.
    KEGGihsa:10716.
    UCSCiuc002ubw.1. human.

    Polymorphism databases

    DMDMi2501122.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U49250 mRNA. Translation: AAA92010.1 .
    AK297438 mRNA. Translation: BAH12582.1 .
    AK312567 mRNA. Translation: BAG35462.1 .
    AK315865 mRNA. Translation: BAF98756.1 .
    AK316161 mRNA. Translation: BAH14532.1 .
    AC009487 Genomic DNA. Translation: AAY15017.1 .
    BC029289 mRNA. Translation: AAH29289.1 .
    BC104844 mRNA. Translation: AAI04845.1 .
    BC113418 mRNA. Translation: AAI13419.1 .
    CCDSi CCDS33310.1.
    RefSeqi NP_006584.1. NM_006593.2.
    UniGenei Hs.210862.

    3D structure databases

    ProteinModelPortali Q16650.
    SMRi Q16650. Positions 205-392.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115942. 3 interactions.
    IntActi Q16650. 1 interaction.
    STRINGi 9606.ENSP00000374205.

    PTM databases

    PhosphoSitei Q16650.

    Polymorphism databases

    DMDMi 2501122.

    Proteomic databases

    PaxDbi Q16650.
    PRIDEi Q16650.

    Protocols and materials databases

    DNASUi 10716.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000389554 ; ENSP00000374205 ; ENSG00000136535 .
    ENST00000410035 ; ENSP00000387023 ; ENSG00000136535 .
    GeneIDi 10716.
    KEGGi hsa:10716.
    UCSCi uc002ubw.1. human.

    Organism-specific databases

    CTDi 10716.
    GeneCardsi GC02P162272.
    HGNCi HGNC:11590. TBR1.
    HPAi CAB012279.
    MIMi 604616. gene.
    neXtProti NX_Q16650.
    PharmGKBi PA36354.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG245070.
    HOGENOMi HOG000218633.
    HOVERGENi HBG000578.
    InParanoidi Q16650.
    KOi K10174.
    OMAi MFPYPSQ.
    OrthoDBi EOG7C2R14.
    PhylomeDBi Q16650.
    TreeFami TF106341.

    Miscellaneous databases

    GeneWikii TBR1.
    GenomeRNAii 10716.
    NextBioi 35467577.
    PROi Q16650.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16650.
    Bgeei Q16650.
    CleanExi HS_TBR1.
    Genevestigatori Q16650.

    Family and domain databases

    Gene3Di 2.60.40.820. 1 hit.
    InterProi IPR008967. p53-like_TF_DNA-bd.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view ]
    PANTHERi PTHR11267. PTHR11267. 1 hit.
    Pfami PF00907. T-box. 1 hit.
    [Graphical view ]
    PRINTSi PR00937. TBOX.
    SMARTi SM00425. TBOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49417. SSF49417. 1 hit.
    PROSITEi PS01283. TBOX_1. 1 hit.
    PS01264. TBOX_2. 1 hit.
    PS50252. TBOX_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex."
      Bulfone A., Smiga S.M., Shimamura K., Peterson A., Puelles L., Rubenstein J.L.R.
      Neuron 15:63-78(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain.
    2. "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] (ISOFORMS 1 AND 2).
      Tissue: Brain.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      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 1).
      Tissue: Brain.

    Entry informationi

    Entry nameiTBR1_HUMAN
    AccessioniPrimary (citable) accession number: Q16650
    Secondary accession number(s): B0AZS4
    , B2R6G5, Q14DC5, Q53TH0, Q56A81
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 118 of the entry and version 1 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 2
      Human chromosome 2: 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