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Protein

T-box transcription factor TBX5

Gene

TBX5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. RNA polymerase II regulatory region sequence-specific DNA binding Source: Ensembl
  3. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  4. sequence-specific DNA binding Source: UniProtKB
  5. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  6. 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 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 PROSITE-ProRule annotation

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 syndrome3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionDevelopmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.

See also OMIM:142900
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

BgeeiQ99593.
CleanExiHS_TBX5.
GenevestigatoriQ99593.

Organism-specific databases

HPAiHPA008786.

Interactioni

Subunit structurei

Monomer. Interacts with GATA4.2 Publications

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. 6 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 – 584Combined sources
Helixi61 – 7010Combined sources
Beta strandi73 – 753Combined sources
Beta strandi77 – 793Combined sources
Beta strandi88 – 936Combined sources
Beta strandi96 – 11722Combined sources
Beta strandi120 – 1267Combined sources
Beta strandi142 – 1443Combined sources
Helixi145 – 1506Combined sources
Beta strandi159 – 1613Combined sources
Beta strandi177 – 18711Combined sources
Beta strandi194 – 1974Combined sources
Beta strandi201 – 2044Combined sources
Helixi207 – 2093Combined sources
Beta strandi211 – 2166Combined sources
Helixi220 – 22910Combined sources
Helixi231 – 2366Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00760000118897.
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. AlignAdd to basket

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

        10         20         30         40         50
MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG
60 70 80 90 100
MEGIKVFLHE RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY
110 120 130 140 150
ILLMDIVPAD DHRYKFADNK WSVTGKAEPA MPGRLYVHPD SPATGAHWMR
160 170 180 190 200
QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ PRLHIVKADE NNGFGSKNTA
210 220 230 240 250
FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD DMELHRMSRM
260 270 280 290 300
QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP
310 320 330 340 350
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE
360 370 380 390 400
DSFYRSSYPQ QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT
410 420 430 440 450
WPSMPSYSSC TVTTVQPMDR LPYQHFSAHF TSGPLVPRLA GMANHGSPQL
460 470 480 490 500
GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG TLQPPEFLYS HGVPRTLSPH
510
QYHSVHGVGM VPEWSDNS
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. Curated

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. 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. 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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi112773. 6 interactions.
IntActiQ99593. 7 interactions.
STRINGi9606.ENSP00000309913.

Chemistry

ChEMBLiCHEMBL1687681.

PTM databases

PhosphoSiteiQ99593.

Polymorphism databases

DMDMi12644474.

Proteomic databases

PaxDbiQ99593.
PRIDEiQ99593.

Protocols and materials databases

DNASUi6910.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi6910.
GeneCardsiGC12M114791.
GeneReviewsiTBX5.
HGNCiHGNC:11604. TBX5.
HPAiHPA008786.
MIMi142900. phenotype.
601620. gene.
neXtProtiNX_Q99593.
Orphaneti392. Holt-Oram syndrome.
PharmGKBiPA36367.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG320009.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286001.
HOVERGENiHBG007310.
InParanoidiQ99593.
KOiK10179.
OMAiSKDLPCD.
OrthoDBiEOG7GN2PM.
PhylomeDBiQ99593.
TreeFamiTF106341.

Enzyme and pathway databases

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

Miscellaneous databases

EvolutionaryTraceiQ99593.
GeneWikiiTBX5_(gene).
GenomeRNAii6910.
NextBioi27023.
PROiQ99593.
SOURCEiSearch...

Gene expression databases

BgeeiQ99593.
CleanExiHS_TBX5.
GenevestigatoriQ99593.

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]
ProtoNetiSearch...

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. Cited for: INTERACTION WITH GATA4.
  10. "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.
  11. "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.
  12. 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: March 4, 2015
This is version 154 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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.