Microphthalmia-associated transcription factor

MITF
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4C7N
Identifiers
Aliases	MITF, CMM8, MI, WS2, WS2A, bHLHe32, microphthalmia-associated transcription factor, melanogenesis associated transcription factor, COMMAD, melanocyte inducing transcription factor, MITF-A
External IDs	OMIM: 156845; MGI: 104554; HomoloGene: 4892; GeneCards: MITF; OMA:MITF - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p13 Start 69,739,456 bp[1] End 69,968,336 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 D3|6 45.05 cM Start 97,784,013 bp[2] End 97,998,310 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium Skeletal muscle tissue of biceps brachii right ventricle glutes myocardium Skeletal muscle tissue of rectus abdominis vastus lateralis muscle myocardium of left ventricle deltoid muscle urethra Top expressed in pineal gland gastrula decidua iris ciliary body Epithelium of choroid plexus retinal pigment epithelium stria vascularis right ventricle atrioventricular valve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein dimerization activity DNA-binding transcription factor activity protein binding DNA-binding transcription repressor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding E-box binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleoplasm nucleus protein-containing complex Biological process regulation of RNA biosynthetic process regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II positive regulation of DNA-templated transcription, initiation transcription, DNA-templated multicellular organism development positive regulation of gene expression transcription by RNA polymerase II regulation of transcription, DNA-templated regulation of gene expression Wnt signaling pathway cell differentiation osteoclast differentiation melanocyte differentiation regulation of cell population proliferation camera-type eye development negative regulation of apoptotic process pigmentation canonical Wnt signaling pathway involved in negative regulation of apoptotic process cell fate commitment regulation of osteoclast differentiation positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II bone remodeling protein-containing complex assembly negative regulation of cell migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4286 17342 Ensembl ENSG00000187098 ENSMUSG00000035158 UniProt O75030 Q08874 RefSeq (mRNA) NM_000248 NM_001184967 NM_001184968 NM_006722 NM_198158 NM_198159 NM_198177 NM_198178 NM_001354604 NM_001354605 NM_001354606 NM_001354607 NM_001354608 NM_001113198 NM_001178049 NM_008601 RefSeq (protein) NP_000239 NP_001171896 NP_001171897 NP_006713 NP_937801 NP_937802 NP_937820 NP_937821 NP_001341533 NP_001341534 NP_001341535 NP_001341536 NP_001341537 NP_001106669 NP_001171520 NP_032627 Location (UCSC) Chr 3: 69.74 – 69.97 Mb Chr 6: 97.78 – 98 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF gene.

MITF is a basic helix-loop-helix leucine zipper transcription factor involved in lineage-specific pathway regulation of many types of cells including melanocytes, osteoclasts, and mast cells.^[5] The term "lineage-specific", since it relates to MITF, means genes or traits that are only found in a certain cell type. Therefore, MITF may be involved in the rewiring of signaling cascades that are specifically required for the survival and physiological function of their normal cell precursors.^[6]

MITF, together with transcription factor EB (TFEB), TFE3 and TFEC, belong to a subfamily of related bHLHZip proteins, termed the MiT-TFE family of transcription factors.^[7][8] The factors are able to form stable DNA-binding homo- and heterodimers.^[9] The gene that encodes for MITF resides at the mi locus in mice,^[10] and its protumorogenic targets include factors involved in cell death, DNA replication, repair, mitosis, microRNA production, membrane trafficking, mitochondrial metabolism, and much more.^[11] Mutation of this gene results in deafness, bone loss, small eyes, and poorly pigmented eyes and skin.^[12] In human subjects, because it is known that MITF controls the expression of various genes that are essential for normal melanin synthesis in melanocytes, mutations of MITF can lead to diseases such as melanoma, Waardenburg syndrome, and Tietz syndrome.^[13] Its function is conserved across vertebrates, including in fishes such as zebrafish^[14] and Xiphophorus.^[15]

An understanding of MITF is necessary to understand how certain lineage-specific cancers and other diseases progress. In addition, current and future research can lead to potential avenues to target this transcription factor mechanism for cancer prevention.^[16]