Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q99593

- TBX5_HUMAN

UniProt

Q99593 - TBX5_HUMAN

Protein

T-box transcription factor TBX5

Gene

TBX5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 149 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 bindingi58 – 238181T-boxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein binding Source: IntAct
    3. RNA polymerase II regulatory region sequence-specific DNA binding Source: Ensembl
    4. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    5. sequence-specific DNA binding Source: UniProtKB
    6. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    7. transcription factor binding Source: BHF-UCL

    GO - Biological processi

    1. apoptotic nuclear changes Source: UniProtKB
    2. atrial septum morphogenesis Source: Ensembl
    3. atrioventricular valve morphogenesis Source: Ensembl
    4. bundle of His development Source: Ensembl
    5. cardiac left ventricle formation Source: BHF-UCL
    6. cardiac muscle cell differentiation Source: Ensembl
    7. cell-cell signaling Source: UniProtKB
    8. cell migration involved in coronary vasculogenesis Source: DFLAT
    9. embryonic forelimb morphogenesis Source: UniProtKB
    10. embryonic limb morphogenesis Source: UniProtKB
    11. endocardial cushion development Source: Ensembl
    12. forelimb morphogenesis Source: MGI
    13. gene expression Source: Reactome
    14. heart development Source: UniProtKB
    15. lung development Source: Ensembl
    16. morphogenesis of an epithelium Source: Ensembl
    17. negative regulation of cardiac muscle cell proliferation Source: UniProtKB
    18. negative regulation of cell migration Source: UniProtKB
    19. negative regulation of cell proliferation Source: UniProtKB
    20. negative regulation of epithelial to mesenchymal transition Source: DFLAT
    21. pattern specification process Source: Ensembl
    22. pericardium development Source: UniProtKB
    23. positive regulation of cardiac muscle cell proliferation Source: Ensembl
    24. positive regulation of cardioblast differentiation Source: UniProtKB
    25. positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
    26. positive regulation of transcription, DNA-templated Source: UniProtKB
    27. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    28. regulation of execution phase of apoptosis Source: UniProtKB
    29. transcription initiation from RNA polymerase II promoter Source: Reactome
    30. ventricular cardiac muscle tissue development Source: Ensembl
    31. ventricular septum development Source: BHF-UCL

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_118713. YAP1- and WWTR1 (TAZ)-stimulated gene expression.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-box transcription factor TBX5
    Short name:
    T-box protein 5
    Gene namesi
    Name:TBX5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:11604. TBX5.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleoplasm Source: Reactome
    3. nucleus Source: UniProtKB
    4. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Holt-Oram syndrome (HOS) [MIM:142900]: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491Q → K in HOS. 1 Publication
    VAR_015381
    Natural varianti54 – 541I → T in HOS. 1 Publication
    VAR_015382
    Natural varianti80 – 801G → R in HOS; significant cardiac malformations but only minor skeletal abnormalities; reduced protein stability and strongly reduced affinity for DNA. 1 Publication
    VAR_009701
    Natural varianti237 – 2371R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 2 Publications
    VAR_007456
    Natural varianti237 – 2371R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. 1 Publication
    VAR_009702

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi142900. phenotype.
    Orphaneti392. Holt-Oram syndrome.
    PharmGKBiPA36367.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 518518T-box transcription factor TBX5PRO_0000184435Add
    BLAST

    Proteomic databases

    PaxDbiQ99593.
    PRIDEiQ99593.

    PTM databases

    PhosphoSiteiQ99593.

    Expressioni

    Gene expression databases

    ArrayExpressiQ99593.
    BgeeiQ99593.
    CleanExiHS_TBX5.
    GenevestigatoriQ99593.

    Organism-specific databases

    HPAiHPA008786.

    Interactioni

    Subunit structurei

    Monomer.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Gata4Q083692EBI-297043,EBI-297008From a different organism.
    NKX2-5P529526EBI-304423,EBI-936601
    YAP1P469374EBI-297043,EBI-1044059

    Protein-protein interaction databases

    BioGridi112773. 5 interactions.
    IntActiQ99593. 7 interactions.
    STRINGi9606.ENSP00000309913.

    Structurei

    Secondary structure

    1
    518
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi55 – 584
    Helixi61 – 7010
    Beta strandi73 – 753
    Beta strandi77 – 793
    Beta strandi88 – 936
    Beta strandi96 – 11722
    Beta strandi120 – 1267
    Beta strandi142 – 1443
    Helixi145 – 1506
    Beta strandi159 – 1613
    Beta strandi177 – 18711
    Beta strandi194 – 1974
    Beta strandi201 – 2044
    Helixi207 – 2093
    Beta strandi211 – 2166
    Helixi220 – 22910
    Helixi231 – 2366

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2X6UX-ray1.90A51-251[»]
    2X6VX-ray2.20A/B51-251[»]
    ProteinModelPortaliQ99593.
    SMRiQ99593. Positions 52-230.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ99593.

    Family & Domainsi

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG320009.
    HOGENOMiHOG000286001.
    HOVERGENiHBG007310.
    InParanoidiQ99593.
    KOiK10179.
    OMAiSKDLPCD.
    OrthoDBiEOG7GN2PM.
    PhylomeDBiQ99593.
    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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99593-1) [UniParc]FASTAAdd to Basket

    Also known as: Long

    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

    MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG    50
    MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY 100
    ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR 150
    QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA 200
    FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM 250
    QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP 300
    SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE 350
    DSFYRSSYPQ QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT 400
    WPSMPSYSSC TVTTVQPMDR LPYQHFSAHF TSGPLVPRLA GMANHGSPQL 450
    GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG TLQPPEFLYS HGVPRTLSPH 500
    QYHSVHGVGM VPEWSDNS 518
    Length:518
    Mass (Da):57,711
    Last modified:December 1, 2000 - v2
    Checksum:i70118AD84FF5C00F
    GO
    Isoform 2 (identifier: Q99593-2) [UniParc]FASTAAdd to Basket

    Also known as: Short

    The sequence of this isoform differs from the canonical sequence as follows:
         328-349: EEECSTTDHPYKKPYMETSPSE → GECDHPWSICFLSYLFLSLGWG
         350-518: Missing.

    Show »
    Length:349
    Mass (Da):39,196
    Checksum:i50CE556CD97ACD76
    GO
    Isoform 3 (identifier: Q99593-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: Missing.

    Show »
    Length:468
    Mass (Da):52,659
    Checksum:iF0434B124BB31A5A
    GO

    Sequence cautioni

    The sequence BAB55448.1 differs from that shown. Reason: Frameshift at position 360.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti7 – 4943GFGLA…AFTQQ → ALAGAHLWSLTQKTCLRFEP RARSGPPASPPGRPRSRLHP A in CAA70592. (PubMed:8988164)CuratedAdd
    BLAST
    Sequence conflicti71 – 711Missing in CAA70592. (PubMed:8988164)Curated
    Sequence conflicti94 – 941L → I in CAA70592. (PubMed:8988164)Curated
    Sequence conflicti122 – 1221S → C in CAA70592. (PubMed:8988164)Curated
    Sequence conflicti132 – 1321P → A in CAA70592. (PubMed:8988164)Curated
    Sequence conflicti418 – 46043MDRLP…QHQTS → WTGYPTSTSPLTSPRGPWSL GWLAWQPWLPTAGRGNVPST RPP in CAA70592. (PubMed:8988164)CuratedAdd
    BLAST
    Sequence conflicti468 – 4703RQC → SSV in CAA70592. (PubMed:8988164)Curated
    Sequence conflicti494 – 51825PRTLS…WSDNS → QGLYPLISTTLCTELAWCRV ERQ in CAA70592. (PubMed:8988164)CuratedAdd
    BLAST

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491Q → K in HOS. 1 Publication
    VAR_015381
    Natural varianti54 – 541I → T in HOS. 1 Publication
    VAR_015382
    Natural varianti80 – 801G → R in HOS; significant cardiac malformations but only minor skeletal abnormalities; reduced protein stability and strongly reduced affinity for DNA. 1 Publication
    VAR_009701
    Natural varianti237 – 2371R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 2 Publications
    VAR_007456
    Natural varianti237 – 2371R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. 1 Publication
    VAR_009702

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5050Missing in isoform 3. 1 PublicationVSP_046845Add
    BLAST
    Alternative sequencei328 – 34922EEECS…TSPSE → GECDHPWSICFLSYLFLSLG WG in isoform 2. 1 PublicationVSP_006387Add
    BLAST
    Alternative sequencei350 – 518169Missing in isoform 2. 1 PublicationVSP_006388Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y09445 mRNA. Translation: CAA70592.1.
    U80987 mRNA. Translation: AAC51644.1.
    U89353 mRNA. Translation: AAC04619.1.
    AF221714 mRNA. Translation: AAF34659.1.
    AB051068 mRNA. Translation: BAB55448.1. Frameshift.
    AC009260 Genomic DNA. No translation available.
    AC069240 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW98066.1.
    BC027942 mRNA. Translation: AAH27942.1.
    CCDSiCCDS9173.1. [Q99593-1]
    CCDS9174.1. [Q99593-3]
    RefSeqiNP_000183.2. NM_000192.3. [Q99593-1]
    NP_542448.1. NM_080717.2. [Q99593-3]
    NP_852259.1. NM_181486.2. [Q99593-1]
    XP_006719645.1. XM_006719582.1. [Q99593-2]
    UniGeneiHs.381715.

    Genome annotation databases

    EnsembliENST00000310346; ENSP00000309913; ENSG00000089225. [Q99593-1]
    ENST00000349716; ENSP00000337723; ENSG00000089225. [Q99593-3]
    ENST00000405440; ENSP00000384152; ENSG00000089225. [Q99593-1]
    ENST00000526441; ENSP00000433292; ENSG00000089225. [Q99593-2]
    GeneIDi6910.
    KEGGihsa:6910.
    UCSCiuc001tvo.4. human. [Q99593-1]
    uc010syv.2. human. [Q99593-2]

    Polymorphism databases

    DMDMi12644474.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y09445 mRNA. Translation: CAA70592.1 .
    U80987 mRNA. Translation: AAC51644.1 .
    U89353 mRNA. Translation: AAC04619.1 .
    AF221714 mRNA. Translation: AAF34659.1 .
    AB051068 mRNA. Translation: BAB55448.1 . Frameshift.
    AC009260 Genomic DNA. No translation available.
    AC069240 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW98066.1 .
    BC027942 mRNA. Translation: AAH27942.1 .
    CCDSi CCDS9173.1. [Q99593-1 ]
    CCDS9174.1. [Q99593-3 ]
    RefSeqi NP_000183.2. NM_000192.3. [Q99593-1 ]
    NP_542448.1. NM_080717.2. [Q99593-3 ]
    NP_852259.1. NM_181486.2. [Q99593-1 ]
    XP_006719645.1. XM_006719582.1. [Q99593-2 ]
    UniGenei Hs.381715.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2X6U X-ray 1.90 A 51-251 [» ]
    2X6V X-ray 2.20 A/B 51-251 [» ]
    ProteinModelPortali Q99593.
    SMRi Q99593. Positions 52-230.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112773. 5 interactions.
    IntActi Q99593. 7 interactions.
    STRINGi 9606.ENSP00000309913.

    Chemistry

    ChEMBLi CHEMBL1687681.

    PTM databases

    PhosphoSitei Q99593.

    Polymorphism databases

    DMDMi 12644474.

    Proteomic databases

    PaxDbi Q99593.
    PRIDEi Q99593.

    Protocols and materials databases

    DNASUi 6910.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310346 ; ENSP00000309913 ; ENSG00000089225 . [Q99593-1 ]
    ENST00000349716 ; ENSP00000337723 ; ENSG00000089225 . [Q99593-3 ]
    ENST00000405440 ; ENSP00000384152 ; ENSG00000089225 . [Q99593-1 ]
    ENST00000526441 ; ENSP00000433292 ; ENSG00000089225 . [Q99593-2 ]
    GeneIDi 6910.
    KEGGi hsa:6910.
    UCSCi uc001tvo.4. human. [Q99593-1 ]
    uc010syv.2. human. [Q99593-2 ]

    Organism-specific databases

    CTDi 6910.
    GeneCardsi GC12M114791.
    GeneReviewsi TBX5.
    HGNCi HGNC:11604. TBX5.
    HPAi HPA008786.
    MIMi 142900. phenotype.
    601620. gene.
    neXtProti NX_Q99593.
    Orphaneti 392. Holt-Oram syndrome.
    PharmGKBi PA36367.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG320009.
    HOGENOMi HOG000286001.
    HOVERGENi HBG007310.
    InParanoidi Q99593.
    KOi K10179.
    OMAi SKDLPCD.
    OrthoDBi EOG7GN2PM.
    PhylomeDBi Q99593.
    TreeFami TF106341.

    Enzyme and pathway databases

    Reactomei REACT_118713. YAP1- and WWTR1 (TAZ)-stimulated gene expression.

    Miscellaneous databases

    EvolutionaryTracei Q99593.
    GeneWikii TBX5_(gene).
    GenomeRNAii 6910.
    NextBioi 27023.
    PROi Q99593.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99593.
    Bgeei Q99593.
    CleanExi HS_TBX5.
    Genevestigatori Q99593.

    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING, VARIANT HOS GLN-237.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS HOS ARG-80; GLN-237 AND TRP-237.
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    5. "Human transcription factor TBX5mRNA, alternatively spliced."
      Demura M., Yoneda T., Takeda Y., Furukawa K., Mabuti H.
      Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    6. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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: Lung and Spleen.
    9. "Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form."
      Stirnimann C.U., Ptchelkine D., Grimm C., Muller C.W.
      J. Mol. Biol. 400:71-81(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 51-251 IN COMPLEX WITH DNA, CHARACTERIZATION OF VARIANTS HOS ARG-80 AND TRP-237, SUBUNIT.
    10. "Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome."
      Yang J., Hu D., Xia J., Yang Y., Ying B., Hu J., Zhou X.
      Am. J. Med. Genet. 92:237-240(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HOS LYS-49 AND THR-54.
    11. Cited for: CHARACTERIZATION OF VARIANT HOS GLN-237.

    Entry informationi

    Entry nameiTBX5_HUMAN
    AccessioniPrimary (citable) accession number: Q99593
    Secondary accession number(s): A6ND77
    , O15301, Q96TB0, Q9Y4I2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 149 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3