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
Gene location (Human)
Chr.	Chromosome 3 (human)
End	69,968,336 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	97,998,310 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; right ventricle; ; myocardium; ; vastus lateralis muscle; ; deltoid muscle; ; urethra; ; renal medulla; ; visceral pleura; ; saphenous vein; ; secondary oocyte;
	Top expressed in
	pineal gland; ; iris; ; ciliary body; ; retinal pigment epithelium; ; stria vascularis; ; right ventricle; ; atrioventricular valve; ; atrium; ; hair follicle; ; digastric muscle;
	More reference expression data
	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
	4286
	17342
	ENSG00000187098
	ENSMUSG00000035158
	O75030
	Q08874
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
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
	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. 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.

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. The factors are able to form stable DNA-binding homo- and heterodimers. The gene that encodes for MITF resides at the mi locus in mice, and its protumorogenic targets include factors involved in cell death, DNA replication, repair, mitosis, microRNA production, membrane trafficking, mitochondrial metabolism, and much more. Mutation of this gene results in deafness, bone loss, small eyes, and poorly pigmented eyes and skin. 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. Its function is conserved across vertebrates, including in fishes such as zebrafish and Xiphophorus.

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.

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