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Description for Protein MITF

microphthalmia-associated transcription factor
26 total interacting proteins; 10 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HLH: helix loop helix domain
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09455
    KEGG - Pathway(s):
    hsa04916; hsa05200; hsa05218
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Microphthalmia-associated transcription factor isoform 3; Microphthalmia-associated transcription factor isoform 2; Microphthalmia-associated transcription factor isoform 6; Microphthalmia-associated transcription factor isoform 4; Microphthalmia-associated transcription factor isoform 5; Microphthalamia; Microphthalmia-associated transcription factor isoform 1; MITF-C; WS2A; MITF-A; MITF-H; MITF-B; MITF-M
    Approved Symbol:
    MITF
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 56
    Human (de-) phosphorylation sites: 56; 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:

  • Tietz albinism-deafness syndrome(Pd);
  • Waardenburg syndrome, type IIA(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: 01138 Entrez Gene ID: 4286 OMIM ID: 156845 Swissprot Accession: Q8WYR3; O75030;