T-box transcription factor TBX3; T-box protein 3 (TBX3)

Function: - transcriptional repressor - role in developmental processes - probably plays a role in limb pattern formation Structure: contains 1 T-box DNA-binding domain Compartment: nucleus (putative) Alternative splicing: - named isoforms=4 - isoform 4 splicing of exon1 to exxon 7 may eliminate the T-box domain Expression: widely expressed Pathology: - defects in TBX3 are the cause of ulnar-mammary syndrome

General

phosphoprotein transcriptional silencer (transcriptional repressor) T-box (TBX) protein

Properties

SIZE: entity length = 743 aa MW = 79 kD COMPARTMENT: cell nucleus MOTIF: T-box domain SITE: 107-220 T-box domain SITE: 241-305 Ser phosphorylation site {S371} Ser phosphorylation site {S375} Ser phosphorylation site {S381} Ser phosphorylation site {S432} Ser phosphorylation site {S438} Thr phosphorylation site {T441} Ser phosphorylation site {S456} silencer element SITE: 544-695 Ser phosphorylation site {S707} Ser phosphorylation site {S738} Ser phosphorylation site {S740} Ser phosphorylation site {S742}

Database Correlations

OMIM correlations MORBIDMAP 601621 UniProt O15119 PFAM correlations Entrez Gene 6926 Kegg hsa:6926