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O60806

- TBX19_HUMAN

UniProt

O60806 - TBX19_HUMAN

Protein

T-box transcription factor TBX19

Gene

TBX19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 3 (01 Aug 1999)
      Previous versions | rss
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    Functioni

    Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi45 – 218174T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. enhancer sequence-specific DNA binding Source: Ensembl
    2. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. cell fate commitment Source: Ensembl
    3. pituitary gland development Source: Ensembl
    4. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    5. regulation of cell differentiation Source: Ensembl
    6. regulation of cell proliferation Source: Ensembl
    7. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    8. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box transcription factor TBX19
    Short name:
    T-box protein 19
    Alternative name(s):
    T-box factor, pituitary
    Gene namesi
    Name:TBX19
    Synonyms:TPIT
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:11596. TBX19.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    ACTH deficiency, isolated (IAD) [MIM:201400]: A disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti128 – 1281S → F in IAD. 1 Publication
    VAR_018387

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi201400. phenotype.
    Orphaneti199296. Congenital isolated ACTH deficiency.
    PharmGKBiPA36359.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 448448T-box transcription factor TBX19PRO_0000184449Add
    BLAST

    Proteomic databases

    PaxDbiO60806.
    PRIDEiO60806.

    PTM databases

    PhosphoSiteiO60806.

    Expressioni

    Gene expression databases

    ArrayExpressiO60806.
    BgeeiO60806.
    CleanExiHS_TBX19.
    GenevestigatoriO60806.

    Organism-specific databases

    HPAiHPA005800.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000356795.

    Structurei

    3D structure databases

    ProteinModelPortaliO60806.
    SMRiO60806. Positions 40-223.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG257463.
    HOGENOMiHOG000063663.
    HOVERGENiHBG004599.
    InParanoidiO60806.
    KOiK10184.
    OMAiQHVAYSH.
    OrthoDBiEOG7GN2PM.
    PhylomeDBiO60806.
    TreeFamiTF106341.

    Family and domain databases

    Gene3Di2.60.40.820. 1 hit.
    InterProiIPR008967. p53-like_TF_DNA-bd.
    IPR002070. TF_Brachyury.
    IPR001699. TF_T-box.
    IPR018186. TF_T-box_CS.
    [Graphical view]
    PANTHERiPTHR11267. PTHR11267. 1 hit.
    PfamiPF00907. T-box. 1 hit.
    [Graphical view]
    PRINTSiPR00938. BRACHYURY.
    PR00937. 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]

    Sequencei

    Sequence statusi: Complete.

    O60806-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAMSELGTRK PSDGTVSHLL NVVESELQAG REKGDPTEKQ LQIILEDAPL    50
    WQRFKEVTNE MIVTKNGRRM FPVLKISVTG LDPNAMYSLL LDFVPTDSHR 100
    WKYVNGEWVP AGKPEVSSHS CVYIHPDSPN FGAHWMKAPI SFSKVKLTNK 150
    LNGGGQIMLN SLHKYEPQVH IVRVGSAHRM VTNCSFPETQ FIAVTAYQNE 200
    EITALKIKYN PFAKAFLDAK ERNHLRDVPE AISESQHVTY SHLGGWIFSN 250
    PDGVCTAGNS NYQYAAPLPL PAPHTHHGCE HYSGLRGHRQ APYPSAYMHR 300
    NHSPSVNLIE SSSNNLQVFS GPDSWTSLSS TPHASILSVP HTNGPINPGP 350
    SPYPCLWTIS NGAGGPSGPG PEVHASTPGA FLLGNPAVTS PPSVLSTQAP 400
    TSAGVEVLGE PSLTSIAVST WTAVASHPFA GWGGPGAGGH HSPSSLDG 448
    Length:448
    Mass (Da):48,238
    Last modified:August 1, 1999 - v3
    Checksum:iB7B1DFF14B8B53C5
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti128 – 1281S → F in IAD. 1 Publication
    VAR_018387

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ010277 mRNA. Translation: CAB37936.1.
    AL009051 Genomic DNA. Translation: CAI22640.1.
    BC093664 mRNA. Translation: AAH93664.1.
    BC093666 mRNA. Translation: AAH93666.1.
    CCDSiCCDS1272.1.
    RefSeqiNP_005140.1. NM_005149.2.
    UniGeneiHs.716656.

    Genome annotation databases

    EnsembliENST00000367821; ENSP00000356795; ENSG00000143178.
    GeneIDi9095.
    KEGGihsa:9095.
    UCSCiuc001gfl.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ010277 mRNA. Translation: CAB37936.1 .
    AL009051 Genomic DNA. Translation: CAI22640.1 .
    BC093664 mRNA. Translation: AAH93664.1 .
    BC093666 mRNA. Translation: AAH93666.1 .
    CCDSi CCDS1272.1.
    RefSeqi NP_005140.1. NM_005149.2.
    UniGenei Hs.716656.

    3D structure databases

    ProteinModelPortali O60806.
    SMRi O60806. Positions 40-223.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000356795.

    PTM databases

    PhosphoSitei O60806.

    Proteomic databases

    PaxDbi O60806.
    PRIDEi O60806.

    Protocols and materials databases

    DNASUi 9095.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367821 ; ENSP00000356795 ; ENSG00000143178 .
    GeneIDi 9095.
    KEGGi hsa:9095.
    UCSCi uc001gfl.3. human.

    Organism-specific databases

    CTDi 9095.
    GeneCardsi GC01P168250.
    H-InvDB HIX0001308.
    HGNCi HGNC:11596. TBX19.
    HPAi HPA005800.
    MIMi 201400. phenotype.
    604614. gene.
    neXtProti NX_O60806.
    Orphaneti 199296. Congenital isolated ACTH deficiency.
    PharmGKBi PA36359.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG257463.
    HOGENOMi HOG000063663.
    HOVERGENi HBG004599.
    InParanoidi O60806.
    KOi K10184.
    OMAi QHVAYSH.
    OrthoDBi EOG7GN2PM.
    PhylomeDBi O60806.
    TreeFami TF106341.

    Miscellaneous databases

    ChiTaRSi TBX19. human.
    GeneWikii TBX19.
    GenomeRNAii 9095.
    NextBioi 34081.
    PROi O60806.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60806.
    Bgeei O60806.
    CleanExi HS_TBX19.
    Genevestigatori O60806.

    Family and domain databases

    Gene3Di 2.60.40.820. 1 hit.
    InterProi IPR008967. p53-like_TF_DNA-bd.
    IPR002070. TF_Brachyury.
    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 PR00938. BRACHYURY.
    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. "Identification, mapping and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19."
      Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A., Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.
      Genomics 55:10-20(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
    4. "A pituitary cell-restricted T-box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins."
      Lamolet B., Pulichino A.-M., Lamonerie T., Gauthier Y., Brue T., Enjalbert A., Drouin J.
      Cell 104:849-859(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, VARIANT IAD PHE-128.

    Entry informationi

    Entry nameiTBX19_HUMAN
    AccessioniPrimary (citable) accession number: O60806
    Secondary accession number(s): Q52M53
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: August 1, 1999
    Last modified: October 1, 2014
    This is version 127 of the entry and version 3 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 1
      Human chromosome 1: 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