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P57082

- TBX4_HUMAN

UniProt

P57082 - TBX4_HUMAN

Protein

T-box transcription factor TBX4

Gene

TBX4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (16 Aug 2004)
      Previous versions | rss
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    Functioni

    Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi71 – 251181T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. angiogenesis Source: Ensembl
    2. embryonic limb morphogenesis Source: Ensembl
    3. limb morphogenesis Source: UniProtKB
    4. lung development Source: Ensembl
    5. morphogenesis of an epithelium Source: Ensembl
    6. multicellular organismal development Source: UniProtKB
    7. regulation of transcription, DNA-templated Source: UniProtKB
    8. skeletal system morphogenesis Source: UniProtKB
    9. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box transcription factor TBX4
    Short name:
    T-box protein 4
    Gene namesi
    Name:TBX4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:11603. TBX4.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Small patella syndrome (SPS) [MIM:147891]: Autosomal dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti248 – 2481G → V in SPS. 1 Publication
    Corresponds to variant rs28938474 [ dbSNP | Ensembl ].
    VAR_026745
    Natural varianti531 – 5311Q → R in SPS. 1 Publication
    Corresponds to variant rs28936696 [ dbSNP | Ensembl ].
    VAR_026746

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi147891. phenotype.
    Orphaneti261279. 17q23.1q23.2 microdeletion syndrome.
    1509. Coxo-podo-patellar syndrome.
    238578. Familial clubfoot due to 17q23.1q23.2 microduplication.
    275777. Heritable pulmonary arterial hypertension.
    PharmGKBiPA36366.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 545545T-box transcription factor TBX4PRO_0000184433Add
    BLAST

    Proteomic databases

    PaxDbiP57082.
    PRIDEiP57082.

    PTM databases

    PhosphoSiteiP57082.

    Expressioni

    Gene expression databases

    ArrayExpressiP57082.
    BgeeiP57082.
    CleanExiHS_TBX4.
    GenevestigatoriP57082.

    Organism-specific databases

    HPAiCAB032413.

    Interactioni

    Protein-protein interaction databases

    BioGridi114875. 1 interaction.
    IntActiP57082. 1 interaction.
    MINTiMINT-1199737.
    STRINGi9606.ENSP00000240335.

    Structurei

    3D structure databases

    ProteinModelPortaliP57082.
    SMRiP57082. Positions 65-243.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG320009.
    HOGENOMiHOG000286001.
    HOVERGENiHBG007310.
    InParanoidiP57082.
    KOiK10178.
    OMAiPAVCERK.
    PhylomeDBiP57082.
    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: P57082-1) [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

    MLQDKGLSES EEAFRAPGPA LGEASAANAP EPALAAPGLS GAALGSPPGP    50
    GADVVAAAAA EQTIENIKVG LHEKELWKKF HEAGTEMIIT KAGRRMFPSY 100
    KVKVTGMNPK TKYILLIDIV PADDHRYKFC DNKWMVAGKA EPAMPGRLYV 150
    HPDSPATGAH WMRQLVSFQK LKLTNNHLDP FGHIILNSMH KYQPRLHIVK 200
    ADENNAFGSK NTAFCTHVFP ETSFISVTSY QNHKITQLKI ENNPFAKGFR 250
    GSDDSDLRVA RLQSKEYPVI SKSIMRQRLI SPQLSATPDV GPLLGTHQAL 300
    QHYQHENGAH SQLAEPQDLP LSTFPTQRDS SLFYHCLKRR DGTRHLDLPC 350
    KRSYLEAPSS VGEDHYFRSP PPYDQQMLSP SYCSEVTPRE ACMYSGSGPE 400
    IAGVSGVDDL PPPPLSCNMW TSVSPYTSYS VQTMETVPYQ PFPTHFTATT 450
    MMPRLPTLSA QSSQPPGNAH FSVYNQLSQS QVRERGPSAS FPRERGLPQG 500
    CERKPPSPHL NAANEFLYSQ TFSLSRESSL QYHSGMGTVE NWTDG 545
    Length:545
    Mass (Da):60,204
    Last modified:August 16, 2004 - v2
    Checksum:iB822FD05EE98C8CD
    GO
    Isoform 2 (identifier: P57082-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         340-340: R → RA

    Note: No experimental confirmation available.

    Show »
    Length:546
    Mass (Da):60,275
    Checksum:iFBBD5B47E298A2CA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61G → A.2 Publications
    Corresponds to variant rs3744448 [ dbSNP | Ensembl ].
    VAR_020251
    Natural varianti35 – 351A → V.1 Publication
    Corresponds to variant rs148424252 [ dbSNP | Ensembl ].
    VAR_026772
    Natural varianti248 – 2481G → V in SPS. 1 Publication
    Corresponds to variant rs28938474 [ dbSNP | Ensembl ].
    VAR_026745
    Natural varianti314 – 3141A → V.
    Corresponds to variant rs3744438 [ dbSNP | Ensembl ].
    VAR_021983
    Natural varianti531 – 5311Q → R in SPS. 1 Publication
    Corresponds to variant rs28936696 [ dbSNP | Ensembl ].
    VAR_026746

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei340 – 3401R → RA in isoform 2. 1 PublicationVSP_054002

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF188703 mRNA. Translation: AAF68854.1.
    AC005901 Genomic DNA. No translation available.
    BC136403 mRNA. Translation: AAI36404.1.
    BC142620 mRNA. Translation: AAI42621.1.
    BC144062 mRNA. Translation: AAI44063.1.
    CCDSiCCDS11629.1. [P57082-1]
    RefSeqiNP_060958.2. NM_018488.2. [P57082-1]
    XP_005257894.1. XM_005257837.1. [P57082-2]
    XP_005257895.1. XM_005257838.1. [P57082-2]
    UniGeneiHs.143907.

    Genome annotation databases

    EnsembliENST00000240335; ENSP00000240335; ENSG00000121075. [P57082-1]
    ENST00000393853; ENSP00000377435; ENSG00000121075. [P57082-2]
    GeneIDi9496.
    KEGGihsa:9496.
    UCSCiuc002izi.3. human. [P57082-1]

    Polymorphism databases

    DMDMi51338786.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF188703 mRNA. Translation: AAF68854.1 .
    AC005901 Genomic DNA. No translation available.
    BC136403 mRNA. Translation: AAI36404.1 .
    BC142620 mRNA. Translation: AAI42621.1 .
    BC144062 mRNA. Translation: AAI44063.1 .
    CCDSi CCDS11629.1. [P57082-1 ]
    RefSeqi NP_060958.2. NM_018488.2. [P57082-1 ]
    XP_005257894.1. XM_005257837.1. [P57082-2 ]
    XP_005257895.1. XM_005257838.1. [P57082-2 ]
    UniGenei Hs.143907.

    3D structure databases

    ProteinModelPortali P57082.
    SMRi P57082. Positions 65-243.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114875. 1 interaction.
    IntActi P57082. 1 interaction.
    MINTi MINT-1199737.
    STRINGi 9606.ENSP00000240335.

    PTM databases

    PhosphoSitei P57082.

    Polymorphism databases

    DMDMi 51338786.

    Proteomic databases

    PaxDbi P57082.
    PRIDEi P57082.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000240335 ; ENSP00000240335 ; ENSG00000121075 . [P57082-1 ]
    ENST00000393853 ; ENSP00000377435 ; ENSG00000121075 . [P57082-2 ]
    GeneIDi 9496.
    KEGGi hsa:9496.
    UCSCi uc002izi.3. human. [P57082-1 ]

    Organism-specific databases

    CTDi 9496.
    GeneCardsi GC17P059533.
    HGNCi HGNC:11603. TBX4.
    HPAi CAB032413.
    MIMi 147891. phenotype.
    601719. gene.
    neXtProti NX_P57082.
    Orphaneti 261279. 17q23.1q23.2 microdeletion syndrome.
    1509. Coxo-podo-patellar syndrome.
    238578. Familial clubfoot due to 17q23.1q23.2 microduplication.
    275777. Heritable pulmonary arterial hypertension.
    PharmGKBi PA36366.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG320009.
    HOGENOMi HOG000286001.
    HOVERGENi HBG007310.
    InParanoidi P57082.
    KOi K10178.
    OMAi PAVCERK.
    PhylomeDBi P57082.
    TreeFami TF106341.

    Miscellaneous databases

    GenomeRNAii 9496.
    NextBioi 35462245.
    PROi P57082.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P57082.
    Bgeei P57082.
    CleanExi HS_TBX4.
    Genevestigatori P57082.

    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. "Virtual cloning and physical mapping of a human T-box gene, TBX4."
      Yi C.H., Russ A., Brook J.D.
      Genomics 67:92-95(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(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] (ISOFORMS 1 AND 2), VARIANT ALA-6.
    4. Cited for: VARIANTS SPS VAL-248 AND ARG-531, VARIANTS ALA-6 AND VAL-35.

    Entry informationi

    Entry nameiTBX4_HUMAN
    AccessioniPrimary (citable) accession number: P57082
    Secondary accession number(s): A5PKU7, B2RMT1, B7ZLV3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: August 16, 2004
    Last modified: October 1, 2014
    This is version 125 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 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