Microphthalmia-Associated Transcription Factor

Preferred Label : Microphthalmia-Associated Transcription Factor;

NCIt synonyms : Class E Basic Helix-Loop-Helix Protein 32; bHLHe32; MITF;

NCIt definition : Microphthalmia-associated transcription factor (526 aa, 59 kDa) is encoded by the human MITF gene. This protein is involved in the transcription of genes that encode melanogenic enzymes.;

NCIt note : Microphthalmia-associated transcription factor binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. (UniProt); Microphthalmia-associated transcription factor is a basic helix-loop-helix (bHLH) protein. This protein requires homodimerization or heterodimerization with another bHLH-containing protein for efficient binding to a DNA target.;

Details

Origin ID

C70586;

UMLS CUI

C1144191;

Currated CISMeF NLP mapping
- Microphthalmia-Associated transcription factor [MeSH concept]
- microphthalmia-associated transcription factor [MeSH Descriptor]
OMIM relation
- Microphthalmia-associated transcription factor [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- MITF protein, human [MeSH concept]
- MITF protein, human [MeSH Supplementary Concept]
- Microphthalmia-Associated transcription factor [MeSH concept]
- microphthalmia-associated transcription factor [MeSH Descriptor]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- MITF Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Transcription Factor Gene [NCIt concept]
- Transcription Regulation Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- bHLH Domain [NCIt concept]
gene_product_is_element_in_pathway
- IL6-Mediated Signaling Pathway [NCIt concept]
- Mast/Stem Cell Growth Factor Receptor Signaling Pathway [NCIt concept]
- Melanocyte Development Pathway [NCIt concept]
- Melanogenesis Pathway [NCIt concept]
- Melanoma Pathway [NCIt concept]
- Regulation of Retinoblastoma Protein Pathway [NCIt concept]
- p38-alpha and p38-beta Signaling Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- Melanogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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