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For Research Use Only. Not For Clinical Use.


Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to symmetrical DNA sequences (E-boxes) (5-CACGTG-3) found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium.
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Melanocytes, Oligodendrocytes, Oligodendrocyte precursor cells, Inhibitory neurons)

Immune cell specificity

Group enriched (classical monocyte, myeloid DC, non-classical monocyte, basophil, intermediate monocyte)

Cell line specificity

Cell line enhanced (HMC-1, SK-MEL-30)

Interaction

Homodimer or heterodimer; dimerization is mediated via the coiled coil region (PubMed:24631970). Efficient DNA binding requires dimerization with another bHLH protein (PubMed:14975237). Binds DNA in the form of homodimer or heterodimer with either TFE3, TFEB or TFEC (PubMed:15507434). Interacts with KARS1 (PubMed:14975237). Identified in a complex with HINT1 and CTNNB1 (PubMed:22647378). Interacts with VSX2 (By similarity).

Molecular function

Activator, Developmental protein, DNA-binding

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