Entity Details

Primary name TBX5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99593
EntryNameTBX5_HUMAN
FullNameT-box transcription factor TBX5
TaxID9606
Evidenceevidence at protein level
Length518
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesTBX5

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001708 cell fate specification
GO:0002009 morphogenesis of an epithelium
GO:0003166 bundle of His development
GO:0003167 atrioventricular bundle cell differentiation
GO:0003181 atrioventricular valve morphogenesis
GO:0003197 endocardial cushion development
GO:0003218 cardiac left ventricle formation
GO:0003281 ventricular septum development
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007267 cell-cell signaling
GO:0007389 pattern specification process
GO:0007507 heart development
GO:0008134 transcription factor binding
GO:0008285 negative regulation of cell population proliferation
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0030324 lung development
GO:0030326 embryonic limb morphogenesis
GO:0030336 negative regulation of cell migration
GO:0032991 protein-containing complex
GO:0032993 protein-DNA complex
GO:0035115 embryonic forelimb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0043565 sequence-specific DNA binding
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0051891 positive regulation of cardioblast differentiation
GO:0060039 pericardium development
GO:0060044 negative regulation of cardiac muscle cell proliferation
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization
GO:0060413 atrial septum morphogenesis
GO:0060928 atrioventricular node cell development
GO:0060929 atrioventricular node cell fate commitment
GO:0060980 cell migration involved in coronary vasculogenesis
GO:0072513 positive regulation of secondary heart field cardioblast proliferation
GO:0086019 cell-cell signaling involved in cardiac conduction
GO:0086054 bundle of His cell to Purkinje myocyte communication by electrical coupling
GO:1901846 positive regulation of cell communication by electrical coupling involved in cardiac conduction
GO:1903598 positive regulation of gap junction assembly
GO:1903781 positive regulation of cardiac conduction

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
IPR008967 p53-like transcription factor, DNA-bindingFamilyHomologous superfamily
IPR018186 Transcription factor, T-box, conserved siteSiteConserved site
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
142900 OMIMHolt-Oram syndrome (HOS)Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. The disease is caused by variants affecting the gene represented in this entry.