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Description for Protein DIAPH1

diaphanous homolog 1 (Drosophila)
12 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 6/2)
(membrane: 1; microparticles: 1; platelet: 5; undefined: 1)
Summary:
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • FH2: Formin Homology 2 Domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05740
    KEGG - Pathway(s):
    hsa04510; hsa04810; hsa05131
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    DRF1; DIAP1; Diaphanous 1 isoform 1; Diaphanous 1 isoform 2
    Approved Symbol:
    DIAPH1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 23
    Human (de-) phosphorylation sites: 23; 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:

  • Deafness, autosomal dominant nonsyndromic sensorineural, 1;
  • DFNA1(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03670 Entrez Gene ID: 1729 OMIM ID: 602121 Swissprot Accession: O60610; Q17RN4; Q6URC4;