Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein TCOF1

Treacher Collins-Franceschetti syndrome 1
11 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • NLS: Nuclear localization signal
  • NES: Nuclear Export Signal
  • LISH: Lissencephaly type-1-like homology motif
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Treacher collins franceschetti syndrome 1; Treacher Collins-Franceschetti syndrome 1 isoform b; Treacher Collins-Franceschetti syndrome 1 isoform a; Treacher Collins-Franceschetti syndrome 1 isoform c; MFD1
    Approved Symbol:
    TCOF1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 333
    Human (de-) phosphorylation sites: 333; 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:

  • Treacher collins syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06026 Entrez Gene ID: 6949 OMIM ID: 606847 Swissprot Accession: A0JLU0; Q13428; B4E111;