The antiserum was produced against synthesized peptide derived from human MITF around the phosphorylation site of Ser180/73. AA range:151-200

Phospho-MITF (S180) Polyclonal Antibody detects endogenous levels of MITF protein only when phosphorylated at S180.The name of modified sites may be influenced by many factors, such as species (the modified site was not originally found in human samples) and the change of protein sequence (the previous protein sequence is incomplete, and the protein sequence may be prolonged with the development of protein sequencing technology). When naming, we will use the "numbers" in historical reference to keep the sites consistent with the reports. The antibody binds to the following modification sequence (lowercase letters are modification sites):PNsPM

MITF

Microphthalmia-associated transcription factor

MITF ;
BHLHE32 ;
Microphthalmia-associated transcription factor ;
Class E basic helix-loop-helix protein 32 ;
bHLHe32

This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes , such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq , Jul 2008] ,

Alternative products:The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert ,Disease:Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. It is an ocular albinism with sensorineural deafness. ,Disease:Defects in MITF are the cause of Tietz syndrome [MIM:103500]. It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound , congenital , bilateral deafness. Penetrance is complete. ,Disease:Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. It is a dominant inherited disorder characterized by sensorineural hearing loss and patches of depigmentation. The features show variable expression and penetrance. ,Function:Transcription factor for tyrosinase and tyrosinase-related protein 1. Binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') found in the tyrosinase promoter. Plays a critical role in the differentiation of various cell types as neural crest-derived melanocytes , mast cells , osteoclasts and optic cup-derived retinal pigment epithelium. ,PTM:Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter. ,similarity:Belongs to the MiT/TFE family. ,similarity:Contains 1 basic helix-loop-helix (bHLH) domain. ,subunit:Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA in the form of homodimer or heterodimer with either TFE3 , TFEB or TFEC. ,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. ,

Nucleus . Cytoplasm . Found exclusively in the nucleus upon phosphorylation. .

>>Mitophagy - animal ;
>>Osteoclast differentiation ;
>>Melanogenesis ;
>>Pathways in cancer ;
>>Transcriptional misregulation in cancer ;
>>Melanoma