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T-box transcription factor TBX5 (T-box protein 5)

 TBX5_HUMAN              Reviewed;         518 AA.
Q99593; A6ND77; O15301; Q96TB0; Q9Y4I2;
01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
01-DEC-2000, sequence version 2.
25-OCT-2017, entry version 176.
RecName: Full=T-box transcription factor TBX5;
Short=T-box protein 5;
Name=TBX5;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND INVOLVEMENT IN
HOS.
PubMed=8988164; DOI=10.1038/ng0197-21;
Li Q.Y., Newbury-Ecob R., Terrett J.A., Wilson D.I., Curtis A.,
Yi C.H., Bullen P.J., Strachan T., Robson S., Bonnet D., Young I.E.,
Raeburn J.A., Buckler A.J., Gebuhr T., Law D.J., Brook J.D.;
"Holt-Oram syndrome is caused by mutations in TBX5, a member of the
Brachyury (T) gene family.";
Nat. Genet. 15:21-29(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING, AND
VARIANT HOS GLN-237.
PubMed=8988165; DOI=10.1038/ng0197-30;
Basson C.T., Bachinsky D.R., Lin R.C., Levi T., Elkins J.A.,
Soults J., Grayzel D., Kroumpouzou E., Traill T.A.,
Leblanc-Straceski J., Renault B., Kucherlapati R., Seidman J.G.,
Seidman C.E.;
"Mutations in human TBX5 cause limb and cardiac malformation in Holt-
Oram syndrome.";
Nat. Genet. 15:30-35(1997).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS HOS ARG-80;
GLN-237 AND TRP-237.
PubMed=10077612; DOI=10.1073/pnas.96.6.2919;
Basson C.T., Huang T., Lin R.C., Bachinksy D.R., Weremowicz S.,
Vaglio A., Bruzzone R., Quadrelli R., Lerone M., Romeo G., Silengo M.,
Pereira A., Krieger J., Mesquita S.F., Kamisago M., Morton C.C.,
Pierpont M.E.M., Muller C.W., Seidman J.G., Seidman C.E.;
"Different TBX5 interactions in heart and limb defined by Holt-Oram
syndrome mutations.";
Proc. Natl. Acad. Sci. U.S.A. 96:2919-2924(1999).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=11183182; DOI=10.1136/jmg.37.10.785;
Cross S.J., Ching Y.-H., Li Q.Y., Armstrong-Buisseret L., Spranger S.,
Lyonnet S., Bonnet D., Penttinen M., Jonveaux P., Leheup B.,
Mortier G., Van Ravenswaaij C., Gardiner C.A.;
"The mutation spectrum in Holt-Oram syndrome.";
J. Med. Genet. 37:785-787(2000).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Demura M., Yoneda T., Takeda Y., Furukawa K., Mabuti H.;
"Human transcription factor TBX5mRNA, alternatively spliced.";
Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16541075; DOI=10.1038/nature04569;
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.;
"The finished DNA sequence of human chromosome 12.";
Nature 440:346-351(2006).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lung, and Spleen;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[9]
INVOLVEMENT IN HOS.
PubMed=12818525; DOI=10.1016/S0003-3995(03)00006-6;
Gruenauer-Kloevekorn C., Froster U.G.;
"Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated
families.";
Ann. Genet. 46:19-23(2003).
[10]
INTERACTION WITH GATA4.
PubMed=24000169; DOI=10.1002/humu.22434;
Yang Y.Q., Gharibeh L., Li R.G., Xin Y.F., Wang J., Liu Z.M.,
Qiu X.B., Xu Y.J., Xu L., Qu X.K., Liu X., Fang W.Y., Huang R.T.,
Xue S., Nemer G.;
"GATA4 loss-of-function mutations underlie familial tetralogy of
fallot.";
Hum. Mutat. 34:1662-1671(2013).
[11]
FUNCTION, INVOLVEMENT IN DCM, VARIANT ALA-154, AND CHARACTERIZATION OF
VARIANT ALA-154.
PubMed=25725155; DOI=10.1016/j.bbrc.2015.02.094;
Zhang X.L., Qiu X.B., Yuan F., Wang J., Zhao C.M., Li R.G., Xu L.,
Xu Y.J., Shi H.Y., Hou X.M., Qu X.K., Xu Y.W., Yang Y.Q.;
"TBX5 loss-of-function mutation contributes to familial dilated
cardiomyopathy.";
Biochem. Biophys. Res. Commun. 459:166-171(2015).
[12]
FUNCTION, INVOLVEMENT IN DCM, VARIANT THR-143, AND CHARACTERIZATION OF
VARIANT THR-143.
PubMed=25963046; DOI=10.3892/ijmm.2015.2206;
Zhou W., Zhao L., Jiang J.Q., Jiang W.F., Yang Y.Q., Qiu X.B.;
"A novel TBX5 loss-of-function mutation associated with sporadic
dilated cardiomyopathy.";
Int. J. Mol. Med. 36:282-288(2015).
[13]
X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 51-251 IN COMPLEX WITH DNA,
CHARACTERIZATION OF VARIANTS HOS ARG-80 AND TRP-237, AND SUBUNIT.
PubMed=20450920; DOI=10.1016/j.jmb.2010.04.052;
Stirnimann C.U., Ptchelkine D., Grimm C., Muller C.W.;
"Structural basis of TBX5-DNA recognition: the T-box domain in its
DNA-bound and -unbound form.";
J. Mol. Biol. 400:71-81(2010).
[14]
X-RAY CRYSTALLOGRAPHY (2.58 ANGSTROMS) OF 1-239 OF HOMODIMER AND DNA,
X-RAY CRYSTALLOGRAPHY (2.82 ANGSTROMS) OF 53-238 IN COMPLEX WITH
NKX2-5 AND DNA, INTERACTION WITH NKX2-5, AND DNA-BINDING.
PubMed=26926761; DOI=10.1021/acs.biochem.6b00171;
Pradhan L., Gopal S., Li S., Ashur S., Suryanarayanan S., Kasahara H.,
Nam H.J.;
"Intermolecular interactions of cardiac transcription factors NKX2.5
and TBX5.";
Biochemistry 55:1702-1710(2016).
[15]
VARIANTS HOS LYS-49 AND THR-54.
PubMed=10842287;
DOI=10.1002/(SICI)1096-8628(20000605)92:4<237::AID-AJMG2>3.0.CO;2-G;
Yang J., Hu D., Xia J., Yang Y., Ying B., Hu J., Zhou X.;
"Three novel TBX5 mutations in Chinese patients with Holt-Oram
syndrome.";
Am. J. Med. Genet. 92:237-240(2000).
[16]
CHARACTERIZATION OF VARIANT HOS GLN-237.
PubMed=15735645; DOI=10.1038/ng1526;
Ching Y.-H., Ghosh T.K., Cross S.J., Packham E.A., Honeyman L.,
Loughna S., Robinson T.E., Dearlove A.M., Ribas G., Bonser A.J.,
Thomas N.R., Scotter A.J., Caves L.S.D., Tyrrell G.P.,
Newbury-Ecob R.A., Munnich A., Bonnet D., Brook J.D.;
"Mutation in myosin heavy chain 6 causes atrial septal defect.";
Nat. Genet. 37:423-428(2005).
[17]
VARIANT ASP-170, CHARACTERIZATION OF VARIANT ASP-170, INVOLVEMENT IN
AF, AND FUNCTION.
PubMed=26917986; DOI=10.7150/ijms.13264;
Wang Z.C., Ji W.H., Ruan C.W., Liu X.Y., Qiu X.B., Yuan F., Li R.G.,
Xu Y.J., Liu X., Huang R.T., Xue S., Yang Y.Q.;
"Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial
Fibrillation.";
Int. J. Med. Sci. 13:60-67(2016).
[18]
VARIANT SER-132, INVOLVEMENT IN AF, CHARACTERIZATION OF VARIANT
SER-132, AND FUNCTION.
PubMed=27035640; DOI=10.3892/mmr.2016.5043;
Guo D.F., Li R.G., Yuan F., Shi H.Y., Hou X.M., Qu X.K., Xu Y.J.,
Zhang M., Liu X., Jiang J.Q., Yang Y.Q., Qiu X.B.;
"TBX5 loss-of-function mutation contributes to atrial fibrillation and
atypical Holt-Oram syndrome.";
Mol. Med. Report. 13:4349-4356(2016).
-!- FUNCTION: DNA-binding protein that regulates the transcription of
several genes and is involved in heart development and limb
pattern formation (PubMed:25725155, PubMed:25963046,
PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the
core DNA motif of NPPA promoter (PubMed:26926761).
{ECO:0000269|PubMed:25725155, ECO:0000269|PubMed:25963046,
ECO:0000269|PubMed:26917986, ECO:0000269|PubMed:26926761,
ECO:0000269|PubMed:27035640, ECO:0000269|PubMed:8988164}.
-!- SUBUNIT: Monomer (PubMed:20450920). Homodimer (via the T-box);
binds DNA as homodimer (PubMed:26926761). Interacts (via the T-
box) with NKX2-5 (via the homeobox); this complex binds DNA
(PubMed:26926761). Interacts with GATA4 (PubMed:24000169).
{ECO:0000269|PubMed:20450920, ECO:0000269|PubMed:24000169,
ECO:0000269|PubMed:26926761}.
-!- INTERACTION:
Q9UQB8-6:BAIAP2; NbExp=4; IntAct=EBI-297043, EBI-9092016;
Q08369:Gata4 (xeno); NbExp=2; IntAct=EBI-297043, EBI-297008;
P52952:NKX2-5; NbExp=6; IntAct=EBI-304423, EBI-936601;
P46937:YAP1; NbExp=4; IntAct=EBI-297043, EBI-1044059;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00201}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1; Synonyms=Long;
IsoId=Q99593-1; Sequence=Displayed;
Name=2; Synonyms=Short;
IsoId=Q99593-2; Sequence=VSP_006387, VSP_006388;
Name=3;
IsoId=Q99593-3; Sequence=VSP_046845;
-!- DOMAIN: The T-Box domain binds to double-stranded DNA
(PubMed:26926761). {ECO:0000269|PubMed:26926761}.
-!- DISEASE: Holt-Oram syndrome (HOS) [MIM:142900]: Developmental
disorder affecting the heart and upper limbs. It is characterized
by thumb anomaly and atrial septal defects.
{ECO:0000269|PubMed:10077612, ECO:0000269|PubMed:10842287,
ECO:0000269|PubMed:12818525, ECO:0000269|PubMed:15735645,
ECO:0000269|PubMed:20450920, ECO:0000269|PubMed:8988164,
ECO:0000269|PubMed:8988165}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Note=Defects in TBX5 are associated with susceptibility
to heart disorders including dilated cardiomyopathy (DCM) and
atrial fibrillation (AF). DCM is characterized by ventricular and
impaired systolic function, resulting in heart failure and
arrhythmia. Patient are at risk of premature death. AF is a common
sustained cardiac rhythm disturbance. AF is characterized by
disorganized atrial electrical activity and ineffective atrial
contraction promoting blood stasis in the atria and reduces
ventricular filling. It can result in palpitations, syncope,
thromboembolic stroke, and congestive heart failure.
{ECO:0000269|PubMed:25725155, ECO:0000269|PubMed:25963046,
ECO:0000269|PubMed:26917986, ECO:0000269|PubMed:27035640}.
-!- SEQUENCE CAUTION:
Sequence=BAB55448.1; Type=Frameshift; Positions=360; Evidence={ECO:0000305};
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EMBL; Y09445; CAA70592.1; -; mRNA.
EMBL; U80987; AAC51644.1; -; mRNA.
EMBL; U89353; AAC04619.1; -; mRNA.
EMBL; AF221714; AAF34659.1; -; mRNA.
EMBL; AB051068; BAB55448.1; ALT_FRAME; mRNA.
EMBL; AC009260; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC069240; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471054; EAW98066.1; -; Genomic_DNA.
EMBL; BC027942; AAH27942.1; -; mRNA.
CCDS; CCDS9173.1; -. [Q99593-1]
CCDS; CCDS9174.1; -. [Q99593-3]
RefSeq; NP_000183.2; NM_000192.3. [Q99593-1]
RefSeq; NP_542448.1; NM_080717.2. [Q99593-3]
RefSeq; NP_852259.1; NM_181486.2. [Q99593-1]
UniGene; Hs.381715; -.
PDB; 2X6U; X-ray; 1.90 A; A=51-251.
PDB; 2X6V; X-ray; 2.20 A; A/B=51-251.
PDB; 4S0H; X-ray; 2.82 A; A/E=53-238.
PDB; 5BQD; X-ray; 2.58 A; A/B=1-239.
PDBsum; 2X6U; -.
PDBsum; 2X6V; -.
PDBsum; 4S0H; -.
PDBsum; 5BQD; -.
ProteinModelPortal; Q99593; -.
SMR; Q99593; -.
BioGrid; 112773; 7.
CORUM; Q99593; -.
IntAct; Q99593; 9.
STRING; 9606.ENSP00000309913; -.
ChEMBL; CHEMBL1687681; -.
iPTMnet; Q99593; -.
PhosphoSitePlus; Q99593; -.
BioMuta; TBX5; -.
DMDM; 12644474; -.
PaxDb; Q99593; -.
PeptideAtlas; Q99593; -.
PRIDE; Q99593; -.
DNASU; 6910; -.
Ensembl; ENST00000310346; ENSP00000309913; ENSG00000089225. [Q99593-1]
Ensembl; ENST00000349716; ENSP00000337723; ENSG00000089225. [Q99593-3]
Ensembl; ENST00000405440; ENSP00000384152; ENSG00000089225. [Q99593-1]
Ensembl; ENST00000526441; ENSP00000433292; ENSG00000089225. [Q99593-2]
GeneID; 6910; -.
KEGG; hsa:6910; -.
UCSC; uc001tvo.5; human. [Q99593-1]
CTD; 6910; -.
DisGeNET; 6910; -.
EuPathDB; HostDB:ENSG00000089225.19; -.
GeneCards; TBX5; -.
GeneReviews; TBX5; -.
HGNC; HGNC:11604; TBX5.
HPA; HPA008786; -.
HPA; HPA064683; -.
MalaCards; TBX5; -.
MIM; 142900; phenotype.
MIM; 601620; gene.
neXtProt; NX_Q99593; -.
OpenTargets; ENSG00000089225; -.
Orphanet; 392; Holt-Oram syndrome.
PharmGKB; PA36367; -.
eggNOG; KOG3585; Eukaryota.
eggNOG; ENOG410XSTS; LUCA.
GeneTree; ENSGT00760000118897; -.
HOGENOM; HOG000286001; -.
HOVERGEN; HBG007310; -.
InParanoid; Q99593; -.
KO; K10179; -.
OMA; RIHIVKA; -.
OrthoDB; EOG091G0I8R; -.
PhylomeDB; Q99593; -.
TreeFam; TF106341; -.
Reactome; R-HSA-2032785; YAP1- and WWTR1 (TAZ)-stimulated gene expression.
Reactome; R-HSA-5578768; Physiological factors.
SIGNOR; Q99593; -.
EvolutionaryTrace; Q99593; -.
GeneWiki; TBX5_(gene); -.
GenomeRNAi; 6910; -.
PRO; PR:Q99593; -.
Proteomes; UP000005640; Chromosome 12.
Bgee; ENSG00000089225; -.
CleanEx; HS_TBX5; -.
Genevisible; Q99593; HS.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0032991; C:macromolecular complex; IDA:UniProtKB.
GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0032993; C:protein-DNA complex; IDA:UniProtKB.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0008134; F:transcription factor binding; IPI:BHF-UCL.
GO; GO:0001228; F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding; IEA:Ensembl.
GO; GO:0060413; P:atrial septum morphogenesis; IEA:Ensembl.
GO; GO:0003181; P:atrioventricular valve morphogenesis; IEA:Ensembl.
GO; GO:0003166; P:bundle of His development; IEA:Ensembl.
GO; GO:0003218; P:cardiac left ventricle formation; ISS:BHF-UCL.
GO; GO:0055007; P:cardiac muscle cell differentiation; IEA:Ensembl.
GO; GO:0060980; P:cell migration involved in coronary vasculogenesis; TAS:DFLAT.
GO; GO:0007267; P:cell-cell signaling; IDA:UniProtKB.
GO; GO:0035115; P:embryonic forelimb morphogenesis; IMP:UniProtKB.
GO; GO:0030326; P:embryonic limb morphogenesis; IMP:UniProtKB.
GO; GO:0003197; P:endocardial cushion development; IEA:Ensembl.
GO; GO:0035136; P:forelimb morphogenesis; IMP:MGI.
GO; GO:0007507; P:heart development; IDA:UniProtKB.
GO; GO:0030324; P:lung development; IEA:Ensembl.
GO; GO:0002009; P:morphogenesis of an epithelium; IEA:Ensembl.
GO; GO:0060044; P:negative regulation of cardiac muscle cell proliferation; IDA:UniProtKB.
GO; GO:0030336; P:negative regulation of cell migration; IDA:UniProtKB.
GO; GO:0008285; P:negative regulation of cell proliferation; IDA:UniProtKB.
GO; GO:0010719; P:negative regulation of epithelial to mesenchymal transition; TAS:DFLAT.
GO; GO:0007389; P:pattern specification process; IEA:Ensembl.
GO; GO:0060039; P:pericardium development; IDA:UniProtKB.
GO; GO:0060045; P:positive regulation of cardiac muscle cell proliferation; IEA:Ensembl.
GO; GO:0051891; P:positive regulation of cardioblast differentiation; IDA:UniProtKB.
GO; GO:0072513; P:positive regulation of secondary heart field cardioblast proliferation; IEA:Ensembl.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IMP:BHF-UCL.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:1900117; P:regulation of execution phase of apoptosis; IC:UniProtKB.
GO; GO:0006367; P:transcription initiation from RNA polymerase II promoter; TAS:Reactome.
GO; GO:0003281; P:ventricular septum development; ISS:BHF-UCL.
CDD; cd00182; TBOX; 1.
Gene3D; 2.60.40.820; -; 1.
InterPro; IPR008967; p53-like_TF_DNA-bd.
InterPro; IPR036960; T-box_sf.
InterPro; IPR001699; TF_T-box.
InterPro; IPR018186; TF_T-box_CS.
PANTHER; PTHR11267; PTHR11267; 1.
Pfam; PF00907; T-box; 1.
PRINTS; PR00937; TBOX.
SMART; SM00425; TBOX; 1.
SUPFAM; SSF49417; SSF49417; 1.
PROSITE; PS01283; TBOX_1; 1.
PROSITE; PS01264; TBOX_2; 1.
PROSITE; PS50252; TBOX_3; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Atrial fibrillation;
Cardiomyopathy; Complete proteome; Developmental protein;
Disease mutation; DNA-binding; Nucleus; Reference proteome;
Transcription; Transcription regulation.
CHAIN 1 518 T-box transcription factor TBX5.
/FTId=PRO_0000184435.
DNA_BIND 58 238 T-box. {ECO:0000255|PROSITE-
ProRule:PRU00201,
ECO:0000269|PubMed:26926761}.
VAR_SEQ 1 50 Missing (in isoform 3).
{ECO:0000303|Ref.5}.
/FTId=VSP_046845.
VAR_SEQ 328 349 EEECSTTDHPYKKPYMETSPSE -> GECDHPWSICFLSYL
FLSLGWG (in isoform 2).
{ECO:0000303|PubMed:8988165}.
/FTId=VSP_006387.
VAR_SEQ 350 518 Missing (in isoform 2).
{ECO:0000303|PubMed:8988165}.
/FTId=VSP_006388.
VARIANT 49 49 Q -> K (in HOS; dbSNP:rs104894383).
{ECO:0000269|PubMed:10842287}.
/FTId=VAR_015381.
VARIANT 54 54 I -> T (in HOS; dbSNP:rs104894384).
{ECO:0000269|PubMed:10842287}.
/FTId=VAR_015382.
VARIANT 80 80 G -> R (in HOS; significant cardiac
malformations but only minor skeletal
abnormalities; reduced protein stability
and strongly reduced affinity for DNA;
dbSNP:rs104894381).
{ECO:0000269|PubMed:10077612,
ECO:0000269|PubMed:20450920}.
/FTId=VAR_009701.
VARIANT 132 132 P -> S (probable disease-associated
mutation found in a patient with atrial
fibrillation; reduces transcriptional
activity; affects transcriptional
regulation of NKX2-5).
{ECO:0000269|PubMed:27035640}.
/FTId=VAR_076673.
VARIANT 143 143 A -> T (probable disease-associated
mutation found in a patient with sporadic
dilated cardiomyopathy; associated with
disease susceptibility; associated with
significantly decreased transcriptional
activity; dbSNP:rs374906778).
{ECO:0000269|PubMed:25963046}.
/FTId=VAR_074599.
VARIANT 154 154 S -> A (probable disease-associated
mutation found in patients with familial
dilated cardiomyopathy; associated with
disease susceptibility; associated with
significantly decreased transcriptional
activity). {ECO:0000269|PubMed:25725155}.
/FTId=VAR_074600.
VARIANT 170 170 H -> D (probable disease-associated
mutation found in a patient with atrial
fibrillation; reduces transcriptional
activity; affects transcriptional
regulation of NKX2-5 or GATA4).
{ECO:0000269|PubMed:26917986}.
/FTId=VAR_076642.
VARIANT 237 237 R -> Q (in HOS; extensive upper limb
malformations; affects transcriptional
regulation of MYH6; dbSNP:rs104894378).
{ECO:0000269|PubMed:10077612,
ECO:0000269|PubMed:15735645,
ECO:0000269|PubMed:8988165}.
/FTId=VAR_007456.
VARIANT 237 237 R -> W (in HOS; extensive upper limb
malformations; strongly reduced affinity
for DNA; dbSNP:rs104894382).
{ECO:0000269|PubMed:10077612,
ECO:0000269|PubMed:20450920}.
/FTId=VAR_009702.
CONFLICT 7 49 GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT
QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR
SRLHPA (in Ref. 1; CAA70592).
{ECO:0000305}.
CONFLICT 71 71 Missing (in Ref. 1; CAA70592).
{ECO:0000305}.
CONFLICT 94 94 L -> I (in Ref. 1; CAA70592).
{ECO:0000305}.
CONFLICT 122 122 S -> C (in Ref. 1; CAA70592).
{ECO:0000305}.
CONFLICT 132 132 P -> A (in Ref. 1; CAA70592).
{ECO:0000305}.
CONFLICT 418 460 MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ
TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG
NVPSTRPP (in Ref. 1; CAA70592).
{ECO:0000305}.
CONFLICT 468 470 RQC -> SSV (in Ref. 1; CAA70592).
{ECO:0000305}.
CONFLICT 494 518 PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC
TELAWCRVERQ (in Ref. 1; CAA70592).
{ECO:0000305}.
STRAND 43 48 {ECO:0000244|PDB:5BQD}.
STRAND 55 58 {ECO:0000244|PDB:2X6U}.
HELIX 61 70 {ECO:0000244|PDB:2X6U}.
STRAND 73 75 {ECO:0000244|PDB:2X6U}.
STRAND 77 79 {ECO:0000244|PDB:2X6U}.
STRAND 88 93 {ECO:0000244|PDB:2X6U}.
STRAND 96 117 {ECO:0000244|PDB:2X6U}.
STRAND 120 126 {ECO:0000244|PDB:2X6U}.
STRAND 142 144 {ECO:0000244|PDB:2X6U}.
HELIX 145 150 {ECO:0000244|PDB:2X6U}.
STRAND 153 155 {ECO:0000244|PDB:4S0H}.
STRAND 159 161 {ECO:0000244|PDB:2X6U}.
STRAND 177 187 {ECO:0000244|PDB:2X6U}.
STRAND 194 197 {ECO:0000244|PDB:2X6U}.
STRAND 201 204 {ECO:0000244|PDB:2X6U}.
HELIX 207 209 {ECO:0000244|PDB:2X6U}.
STRAND 211 216 {ECO:0000244|PDB:2X6U}.
HELIX 220 229 {ECO:0000244|PDB:2X6U}.
HELIX 231 236 {ECO:0000244|PDB:2X6V}.
SEQUENCE 518 AA; 57711 MW; 70118AD84FF5C00F CRC64;
MADADEGFGL AHTPLEPDAK DLPCDSKPES ALGAPSKSPS SPQAAFTQQG MEGIKVFLHE
RELWLKFHEV GTEMIITKAG RRMFPSYKVK VTGLNPKTKY ILLMDIVPAD DHRYKFADNK
WSVTGKAEPA MPGRLYVHPD SPATGAHWMR QLVSFQKLKL TNNHLDPFGH IILNSMHKYQ
PRLHIVKADE NNGFGSKNTA FCTHVFPETA FIAVTSYQNH KITQLKIENN PFAKGFRGSD
DMELHRMSRM QSKEYPVVPR STVRQKVASN HSPFSSESRA LSTSSNLGSQ YQCENGVSGP
SQDLLPPPNP YPLPQEHSQI YHCTKRKEEE CSTTDHPYKK PYMETSPSEE DSFYRSSYPQ
QQGLGASYRT ESAQRQACMY ASSAPPSEPV PSLEDISCNT WPSMPSYSSC TVTTVQPMDR
LPYQHFSAHF TSGPLVPRLA GMANHGSPQL GEGMFQHQTS VAHQPVVRQC GPQTGLQSPG
TLQPPEFLYS HGVPRTLSPH QYHSVHGVGM VPEWSDNS


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