Homo sapiens Protein: TBX3
Summary
InnateDB Protein IDBP-59035.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBX3
Protein Name T-box 3
Synonyms TBX3-ISO; UMS; XHL;
Species Homo sapiens
Ensembl Protein ENSP00000257566
InnateDB Gene IDBG-59033 (TBX3)
Protein Structure
UniProt Annotation
Function Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. {ECO:0000269PubMed:10468588, ECO:0000269PubMed:22002537}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00201}.
Disease Associations Ulnar-mammary syndrome (UMS) [MIM:181450]: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. {ECO:0000269PubMed:10330342}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 10 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0001701 in utero embryonic development
GO:0001947 heart looping
GO:0003007 heart morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003167 atrioventricular bundle cell differentiation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007569 cell aging
GO:0008284 positive regulation of cell proliferation
GO:0008595 anterior/posterior axis specification, embryo
GO:0009887 organ morphogenesis
GO:0010159 specification of organ position
GO:0019827 stem cell maintenance
GO:0021761 limbic system development
GO:0030539 male genitalia development
GO:0030540 female genitalia development
GO:0030857 negative regulation of epithelial cell differentiation
GO:0030879 mammary gland development
GO:0032275 luteinizing hormone secretion
GO:0035108 limb morphogenesis
GO:0035115 embryonic forelimb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0042127 regulation of cell proliferation
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0045662 negative regulation of myoblast differentiation
GO:0045787 positive regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046884 follicle-stimulating hormone secretion
GO:0048332 mesoderm morphogenesis
GO:0055007 cardiac muscle cell differentiation
GO:0060021 palate development
GO:0060412 ventricular septum morphogenesis
GO:0060444 branching involved in mammary gland duct morphogenesis
GO:0060596 mammary placode formation
GO:0060923 cardiac muscle cell fate commitment
GO:0060931 sinoatrial node cell development
GO:0090398 cellular senescence
GO:2000648 positive regulation of stem cell proliferation
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR001699 Transcription factor, T-box
IPR008967 p53-like transcription factor, DNA-binding
IPR022582 Transcription factor, T-box, region of unknown function
PFAM PF00907
PF12598
PRINTS PR00937
PIRSF
SMART SM00425
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O15119
PhosphoSite PhosphoSite-O15119
TrEMBL A0A024RBL6
UniProt Splice Variant
Entrez Gene 6926
UniGene Hs.741777
RefSeq NP_057653
HUGO HGNC:11602
OMIM 601621
CCDS CCDS9176
HPRD 03373
IMGT
EMBL AF002228 AF140240 AF170708 AF216750 BC025258 CH471054
GenPept AAC12947 AAD50989 AAF61207 AAF61816 AAH25258 EAW98071 EAW98073