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Description for Protein TRPS1

trichorhinophalangeal syndrome I
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ZNFC2: zinc finger
  • ZNF_GATA: zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Tricho rhino phalangeal syndrome type I protein; Zinc finger protein GC79
    Approved Symbol:
    TRPS1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 20
    Human (de-) phosphorylation sites: 20; 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:

  • Trichorhinophalangeal syndrome, type I(Pd);
  • Trichorhinophalangeal syndrome, type III(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05091 Entrez Gene ID: 7227 OMIM ID: 604386 Swissprot Accession: Q9UHF7;