MiTF Recombinant Rabbit Monoclonal Antibody [JF100-01] (ET1702-86)

UNIPROT #

O75030

PROTEIN NAME

MiTF

SYNONYMS

BHLHE32 antibody;bHLHe32 antibody;Class E basic helix-loop-helix protein 32 antibody;CMM8 antibody;Homolog of mouse microphthalmia antibody;Mi antibody;Microphthalmia associated transcription factor antibody;Microphthalmia, mouse, homolog of antibody;Microphthalmia-associated transcription factor antibody;MITF antibody;MITF_HUMAN antibody;mitfa antibody;nacre antibody;WS2 antibody;WS2A antibody;z3A.1 antibody

SEQUENCE SIMILARITIES

Belongs to the MiT/TFE family.

TISSUE SPECIFICITY

Isoform M is exclusively expressed in melanocytes and melanoma cells. Isoform A and isoform H are widely expressed in many cell types including melanocytes and retinal pigment epithelium (RPE). Isoform C is expressed in many cell types including RPE but not in melanocyte-lineage cells. Isoform Mdel is widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines.

POST-TRANSLATIONAL MODIFICATION

Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. Phosphorylated at Ser-180 and Ser-516 following KIT signaling, trigerring a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome.; Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome. Deubiquitinated by USP13, preventing its degradation.

SUBCELLULAR LOCATION

Nucleus, Cytoplasm.

FUNCTION

MITF (microphthalmia-associated transcription factor) is a melanocytic nuclear protein that contains basic helix-loop-helix (HLH) and leucine zipper (LZ) domains. These protein motifs are frequently observed in other transcription factors and are particularly common to members of the Myc family. MITF can directly associate with DNA as a homodimer and is required for the development and differentiation of melanocytes. Its expression is upregulated by cAMP and cAMP-dependent pathways. MITF activates several different gene promoters by binding to their E-boxes. Tyrosinase, TRP1 and TRP2 are pigment synthesis genes activated by MITF. When MITF is phosphorylated on Ser73 (via the MAPK pathway), it associates with co-activators of the p300/CBP family and enhances transcription. MITF has several isoforms including MITF-M which is specifically expressed in melanocytes. In MITF-deficient mice there is a complete absence of melanocytes.