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Q9UL17

- TBX21_HUMAN

UniProt

Q9UL17 - TBX21_HUMAN

Protein

T-box transcription factor TBX21

Gene

TBX21

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Transcription factor that controls the expression of the TH1 cytokine, interferon-gamma. Initiates TH1 lineage development from naive TH precursor cells both by activating TH1 genetic programs and by repressing the opposing TH2 programs.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi141 – 326186T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    2. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. lymphocyte migration Source: UniProtKB
    2. multicellular organismal development Source: UniProtKB
    3. positive regulation of isotype switching to IgG isotypes Source: Ensembl
    4. positive regulation of transcription, DNA-templated Source: UniProtKB
    5. regulation of transcription, DNA-templated Source: UniProtKB
    6. response to virus Source: UniProtKB
    7. T cell differentiation Source: Ensembl
    8. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box transcription factor TBX21
    Short name:
    T-box protein 21
    Alternative name(s):
    T-cell-specific T-box transcription factor T-bet
    Transcription factor TBLYM
    Gene namesi
    Name:TBX21
    Synonyms:TBET, TBLYM
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:11599. TBX21.

    Subcellular locationi

    GO - Cellular componenti

    1. neuronal cell body Source: Ensembl
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Asthma, with nasal polyps and aspirin intolerance (ANPAI) [MIM:208550]: A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Keywords - Diseasei

    Asthma

    Organism-specific databases

    MIMi208550. phenotype.
    PharmGKBiPA36362.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 535535T-box transcription factor TBX21PRO_0000184453Add
    BLAST

    Proteomic databases

    MaxQBiQ9UL17.
    PaxDbiQ9UL17.
    PRIDEiQ9UL17.

    PTM databases

    PhosphoSiteiQ9UL17.

    Expressioni

    Tissue specificityi

    T-cell specific.

    Gene expression databases

    BgeeiQ9UL17.
    CleanExiHS_TBX21.
    GenevestigatoriQ9UL17.

    Organism-specific databases

    HPAiCAB009524.
    CAB030043.

    Interactioni

    Protein-protein interaction databases

    BioGridi119027. 9 interactions.
    IntActiQ9UL17. 1 interaction.
    STRINGi9606.ENSP00000177694.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UL17.
    SMRiQ9UL17. Positions 137-325.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG254024.
    HOGENOMiHOG000218633.
    HOVERGENiHBG000578.
    InParanoidiQ9UL17.
    KOiK10166.
    OMAiAPPGRFL.
    OrthoDBiEOG7C2R14.
    PhylomeDBiQ9UL17.
    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]

    Sequencei

    Sequence statusi: Complete.

    Q9UL17-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGIVEPGCGD MLTGTEPMPG SDEGRAPGAD PQHRYFYPEP GAQDADERRG    50
    GGSLGSPYPG GALVPAPPSR FLGAYAYPPR PQAAGFPGAG ESFPPPADAE 100
    GYQPGEGYAA PDPRAGLYPG PREDYALPAG LEVSGKLRVA LNNHLLWSKF 150
    NQHQTEMIIT KQGRRMFPFL SFTVAGLEPT SHYRMFVDVV LVDQHHWRYQ 200
    SGKWVQCGKA EGSMPGNRLY VHPDSPNTGA HWMRQEVSFG KLKLTNNKGA 250
    SNNVTQMIVL QSLHKYQPRL HIVEVNDGEP EAACNASNTH IFTFQETQFI 300
    AVTAYQNAEI TQLKIDNNPF AKGFRENFES MYTSVDTSIP SPPGPNCQFL 350
    GGDHYSPLLP NQYPVPSRFY PDLPGQAKDV VPQAYWLGAP RDHSYEAEFR 400
    AVSMKPAFLP SAPGPTMSYY RGQEVLAPGA GWPVAPQYPP KMGPASWFRP 450
    MRTLPMEPGP GGSEGRGPED QGPPLVWTEI APIRPESSDS GLGEGDSKRR 500
    RVSPYPSSGD SSSPAGAPSP FDKEAEGQFY NYFPN 535
    Length:535
    Mass (Da):58,328
    Last modified:May 1, 2000 - v1
    Checksum:i51F351335598CEF2
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331H → Q.1 Publication
    Corresponds to variant rs2240017 [ dbSNP | Ensembl ].
    VAR_020252
    Natural varianti339 – 3391I → V.
    Corresponds to variant rs12721471 [ dbSNP | Ensembl ].
    VAR_029275

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF093098 mRNA. Translation: AAF00055.1.
    AF241243 mRNA. Translation: AAF61243.1.
    BC039739 mRNA. Translation: AAH39739.1.
    CCDSiCCDS11514.1.
    RefSeqiNP_037483.1. NM_013351.1.
    UniGeneiHs.272409.

    Genome annotation databases

    EnsembliENST00000177694; ENSP00000177694; ENSG00000073861.
    GeneIDi30009.
    KEGGihsa:30009.
    UCSCiuc002ilv.1. human.

    Polymorphism databases

    DMDMi12230772.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF093098 mRNA. Translation: AAF00055.1 .
    AF241243 mRNA. Translation: AAF61243.1 .
    BC039739 mRNA. Translation: AAH39739.1 .
    CCDSi CCDS11514.1.
    RefSeqi NP_037483.1. NM_013351.1.
    UniGenei Hs.272409.

    3D structure databases

    ProteinModelPortali Q9UL17.
    SMRi Q9UL17. Positions 137-325.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119027. 9 interactions.
    IntActi Q9UL17. 1 interaction.
    STRINGi 9606.ENSP00000177694.

    PTM databases

    PhosphoSitei Q9UL17.

    Polymorphism databases

    DMDMi 12230772.

    Proteomic databases

    MaxQBi Q9UL17.
    PaxDbi Q9UL17.
    PRIDEi Q9UL17.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000177694 ; ENSP00000177694 ; ENSG00000073861 .
    GeneIDi 30009.
    KEGGi hsa:30009.
    UCSCi uc002ilv.1. human.

    Organism-specific databases

    CTDi 30009.
    GeneCardsi GC17P045810.
    HGNCi HGNC:11599. TBX21.
    HPAi CAB009524.
    CAB030043.
    MIMi 208550. phenotype.
    604895. gene.
    neXtProti NX_Q9UL17.
    PharmGKBi PA36362.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG254024.
    HOGENOMi HOG000218633.
    HOVERGENi HBG000578.
    InParanoidi Q9UL17.
    KOi K10166.
    OMAi APPGRFL.
    OrthoDBi EOG7C2R14.
    PhylomeDBi Q9UL17.
    TreeFami TF106341.

    Miscellaneous databases

    GeneWikii TBX21.
    GenomeRNAii 30009.
    NextBioi 52824.
    PROi Q9UL17.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9UL17.
    CleanExi HS_TBX21.
    Genevestigatori Q9UL17.

    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. "Cloning and characterization of a new member of T-box gene family."
      Yang S.
      Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "A novel transcription factor, T-bet, directs Th1 lineage commitment."
      Szabo S.J., Kim S.T., Costa G.L., Zhang X., Fathman C.G., Glimcher L.H.
      Cell 100:655-669(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    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].
      Tissue: Testis.
    4. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ASPIRIN-INDUCED ASTHMA, INVOLVEMENT IN SUSCEPTIBILITY TO ASTHMA AND NASAL POLYPS, VARIANT GLN-33.

    Entry informationi

    Entry nameiTBX21_HUMAN
    AccessioniPrimary (citable) accession number: Q9UL17
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 124 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 17
      Human chromosome 17: 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