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Microphthalmia Associated Transcription Factor (MITF)

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WS2A; MI; bHLHe32; Homolog Of Mouse Microphthalmia; Class E basic helix-loop-helix protein 32

Microphthalmia Associated Transcription Factor (MITF)
CCC H645
HGNC 7105
MGI 104554
PubMed 22496449
RGD 3092
UniProt O75030
Wiki MITF
MITF 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.
The deduced MITF-C protein contains 519 amino acids and has a calculated molecular mass of 58.0 kD. Like the other MITF isoforms, MITF-C has a unique N terminus, and it does not have the 6-amino acid insertion found in MITF-M. .

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH645Hu01 Recombinant Microphthalmia Associated Transcription Factor (MITF) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAH645Hu21 Monoclonal Antibody to Microphthalmia Associated Transcription Factor (MITF) WB; IHC; ICC; IP.
PAH645Hu01 Polyclonal Antibody to Microphthalmia Associated Transcription Factor (MITF) WB; IHC; ICC; IP.
Assay Kits SEH645Hu ELISA Kit for Microphthalmia Associated Transcription Factor (MITF) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH645Mu01 Recombinant Microphthalmia Associated Transcription Factor (MITF) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Microphthalmia Associated Transcription Factor (MITF) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Microphthalmia Associated Transcription Factor (MITF) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Microphthalmia Associated Transcription Factor (MITF) CLIA Kit Customized Service Offer
n/a ELISA Kit for Microphthalmia Associated Transcription Factor (MITF) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Microphthalmia Associated Transcription Factor (MITF) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Microphthalmia Associated Transcription Factor (MITF) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Microphthalmia Associated Transcription Factor (MITF) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Microphthalmia Associated Transcription Factor (MITF) CLIA Kit Customized Service Offer
n/a ELISA Kit for Microphthalmia Associated Transcription Factor (MITF) ELISA Kit Customized Service Offer
  1. "Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium."Biochem. Biophys. Res. Commun. 247:710-715(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3."Hum. Mol. Genet. 3:553-557(1994) [PubMed] [Europe PMC] [Abstract]
  3. "Mitf-Mdel, a novel melanocyte/melanoma-specific isoform of microphthalmia-associated transcription factor-M, as a candidate biomarker for melanoma."BMC Med. 8:14-14(2010) [PubMed] [Europe PMC] [Abstract]
  4. "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence, annotation and analysis of human chromosome 3." Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters."Biochim. Biophys. Acta 1491:205-219(2000) [PubMed] [Europe PMC] [Abstract]
  9. "Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus."J. Biochem. 126:1043-1051(1999) [PubMed] [Europe PMC] [Abstract]
  10. "c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi."Genes Dev. 14:301-312(2000) [PubMed] [Europe PMC] [Abstract]
  11. "Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance."Hum. Mol. Genet. 9:125-132(2000) [PubMed] [Europe PMC] [Abstract]
  12. "The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells."Immunity 20:145-151(2004) [PubMed] [Europe PMC] [Abstract]
  13. "Sumoylation of MITF and its related family members TFE3 and TFEB."J. Biol. Chem. 280:146-155(2005) [PubMed] [Europe PMC] [Abstract]
  14. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
  15. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  17. "A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma." Nature 480:94-98(2011) [PubMed] [Europe PMC] [Abstract]
  18. "A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma." Nature 480:99-103(2011) [PubMed] [Europe PMC] [Abstract]
  19. "The tumor suppressor HINT1 regulates MITF and beta-catenin transcriptional activity in melanoma cells."Cell Cycle 11:2206-2215(2012) [PubMed] [Europe PMC] [Abstract]
  20. "The mutational spectrum in Waardenburg syndrome."Hum. Mol. Genet. 4:2131-2137(1995) [PubMed] [Europe PMC] [Abstract]
  21. "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF."J. Med. Genet. 37:446-448(2000) [PubMed] [Europe PMC] [Abstract]