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Q99593

- TBX5_HUMAN

UniProt

Q99593 - TBX5_HUMAN

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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

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-boxAdd
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
Complete GO annotation...

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 Reviewed prediction

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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. 2 Publications
VAR_009701
Natural varianti237 – 2371R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 3 Publications
VAR_007456
Natural varianti237 – 2371R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. 2 Publications
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.

Miscellaneous databases

EvolutionaryTraceiQ99593.

Family & Domainsi

Sequence similaritiesi

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.

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. 2 Publications
VAR_009701
Natural varianti237 – 2371R → Q in HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. 3 Publications
VAR_007456
Natural varianti237 – 2371R → W in HOS; extensive upper limb malformations; strongly reduced affinity for DNA. 2 Publications
VAR_009702

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5050Missing in isoform 3. VSP_046845Add
BLAST
Alternative sequencei328 – 34922EEECS…TSPSE → GECDHPWSICFLSYLFLSLG WG in isoform 2. VSP_006387Add
BLAST
Alternative sequencei350 – 518169Missing in isoform 2. VSP_006388Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti7 – 4943GFGLA…AFTQQ → ALAGAHLWSLTQKTCLRFEP RARSGPPASPPGRPRSRLHP A in CAA70592. 1 PublicationAdd
BLAST
Sequence conflicti71 – 711Missing in CAA70592. 1 Publication
Sequence conflicti94 – 941L → I in CAA70592. 1 Publication
Sequence conflicti122 – 1221S → C in CAA70592. 1 Publication
Sequence conflicti132 – 1321P → A in CAA70592. 1 Publication
Sequence conflicti418 – 46043MDRLP…QHQTS → WTGYPTSTSPLTSPRGPWSL GWLAWQPWLPTAGRGNVPST RPP in CAA70592. 1 PublicationAdd
BLAST
Sequence conflicti468 – 4703RQC → SSV in CAA70592. 1 Publication
Sequence conflicti494 – 51825PRTLS…WSDNS → QGLYPLISTTLCTELAWCRV ERQ in CAA70592. 1 PublicationAdd
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 148 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

Similar proteinsi