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 MID1

midline 1 (Opitz/BBB syndrome)
17 total interacting proteins; 9 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • RING: Ring finger
  • BBOX: B-Box-type zinc finger
  • CC: Coiled Coil
  • BBC: B-Box C-terminal domain
  • FN3: Fibronectin type 3 domain
  • PRY: Parathyroid hormone
  • SPRY: Domain in SPla and the RYanodine Receptor.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    6.3.2.19
    KEGG - Orthology:
    K08285
    KEGG - Pathway(s):
    hsa04120
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    OS; OSX; OGS1; Midline 1 ring finger gene; Midin; Zinc finger X and Y; Putative transcription factor XPRF; Tripartite motif protein TRIM18; FXY; XPRF; BBBG1; GBBB1; RNF59; ZNFXY; Finger on X and Y; Ring finger protein 59; TRIM18; Midline-1
    Approved Symbol:
    MID1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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:

  • Opitz syndrome, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02047 Entrez Gene ID: 4281 OMIM ID: 300552 Swissprot Accession: O15344;