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Description for Protein TBX3

T-box 3
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TBOX: Domain first found in the mice T locus (Brachyury) protein
  • NLS: Nuclear localization signal
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10177
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    T-box protein 3; T-box transcription factor TBX3; UMS; XHL; TBX3-ISO; Bladder cancer related protein XHL; T-box 3 protein isoform 2; T-box 3 protein isoform 1
    Approved Symbol:
    TBX3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 30
    Human (de-) phosphorylation sites: 30; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Ulnar-Mammary syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03373 Entrez Gene ID: 6926 OMIM ID: 601621 Swissprot Accession: O15119;