Recombinant Human Microphthalmia-associated transcription factor (MITF)

Code CSB-YP014595HU
MSDS
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Source Yeast
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Code CSB-EP014595HU
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Source E.coli
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Code CSB-EP014595HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP014595HU
MSDS
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Source Baculovirus
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Code CSB-MP014595HU
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
MITF
Uniprot No.
Alternative Names
BHLHE32; bHLHe32; Class E basic helix-loop-helix protein 32; CMM8; Homolog of mouse microphthalmia ; Mi; Microphthalmia associated transcription factor; Microphthalmia, mouse, homolog of; Microphthalmia-associated transcription factor; MITF; MITF_HUMAN; mitfa; nacre; WS2; WS2A; z3A.1
Species
Homo sapiens (Human)
Expression Region
1-413
Target Protein Sequence
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDH VMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVI DDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN IKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI LKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLC SPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSV PTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
Protein Length
Full length protein of Isoform M2
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

Customer Reviews and Q&A

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Target Background

Function
Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and 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.
Gene References into Functions
  1. Results show that MITF is highly expressed in myeloma cells and regulates cdk2 expression to drive cell resistance to both BRAF and Hsp90 inhibitors. PMID: 29507054
  2. Data show that glycogen synthase kinase 3 (GSK3) and proto-oncogene proteins B-raf (BRAF)/MAPK signaling converges to control microphthalmia-associated transcription factor MITF (MITF) nuclear export. PMID: 30150413
  3. Our results provide a new molecular insights into how MITF mutations can lead to different phenotypes of WS2 through Wnt/beta-catenin signaling pathway. PMID: 29531335
  4. The present study reports a novel mutation, c.718C>G; p. (Arg240Gly) in the melanogenesis associated transcription factor gene, in Han people with hearing loss. PMID: 29484430
  5. Studied microphthalmia-associated transcription factor (Mitf) upregulation and melanogenesis enhanced by Cymbopogon schoenanthus phenol extracts. PMID: 29359158
  6. the essential melanocyte-specific transcription factor MITF regulates expression of the MYO5A gene, which encodes the molecular motor myosin-Va. PMID: 27939378
  7. The above observations support the idea that primary and metastatic melanomas comprise not only MITF-high and MITF-low cells, but also subpopulations expressing markers of both signatures. Combinations of the three cell populations may be adjacent or intermixed contributing to the spatial heterogeneity of the tumors. PMID: 28855355
  8. The SH3BP4 is transcriptionally regulated by MITF as its direct target. PMID: 28819321
  9. demonstrate that the FANC pathway acts downstream MiTF and establish the existence of an epistatic relationship between MiTF and the FANC pathway PMID: 27827420
  10. MITF expression levels may be determined in hepatic cancer cells by the balance between the Hedgehog signaling and the cellular stress. PMID: 28794318
  11. Data strongly suggest that glucose deprivation suppresses MITF expression through reactive oxygen species-induced ATF4 up-regulation, which in turn results in reduced melanoma cell proliferation. PMID: 28380427
  12. Authors showed that overexpression of MITF-A leads to a substantial increase of nephron number and bigger kidneys, whereas Mitfa deficiency results in reduced nephron number. PMID: 29240767
  13. MITF may play a role in the development of acquired drug resistance through hyper-activation of the PI3K pathway. PMID: 27391157
  14. Mutations in MITF gene is associated with Waardenburg syndrome type 2A . PMID: 29094203
  15. A sumoylation-defective germline mutation in microphthalmia-associated transcription factor (MITF), a master regulator of melanocyte homeostasis, is associated with the development of melanoma. [review] PMID: 28825724
  16. Single Nucleotide Polymorphism in MITF gene is associated with facial solar lentigines. PMID: 27327535
  17. Phosphorylation of MITF by AKT affects its downstream targets and causes TP53-dependent cell senescence PMID: 27702651
  18. we identified two novel MITF mutations in patients with TS/WS2A. Our results suggest that posterior microphthalmos might be part of the clinical characteristics of Tietz/Waardenburg syndrome type 2A and expand both the clinical and molecular spectrum of the disease. PMID: 27604145
  19. Data show that poly(ADP-ribose) polymerase 1 (PARP1)-mediated senescence rescue was accompanied by transcriptional activation of the melanocyte-lineage survival oncogene MITF, indicating a role for PARP1 in melanomagenesis. PMID: 28759004
  20. MITF is a direct target of miR-137. PMID: 26845432
  21. Study found in melanoma cell lines that ILEI is highly expressed in MITF-low invasive cells, and that phenotype switching between the MITF-low invasive state and the MITF-high proliferative state can alter ILEI expression. PMID: 28545079
  22. Suppression of MITF activity by UCHL1 via protein degradation might aid in the development of new therapeutic approaches for melanoma or dyspigmentation disorders. PMID: 28392346
  23. The results of the present study have provided new and surprising insights into the effect of Bcl-2 overexpression in melanoma cells, namely that Bcl-2 modulates MITF nuclear activity. PMID: 26599548
  24. Insight into molecular interactions between CRD-BP and MITF mRNA. PMID: 28182633
  25. Our data uncover novel mechanisms linking MITF-dependent inhibition of invasion to suppression of guanylate metabolism. PMID: 27181209
  26. our results demonstrate that AR can promote melanoma metastasis via altering the miRNA-539-3p/USP13/MITF/AXL signal and targeting this newly identified signal with AR degradation enhancer ASC-J9 may help us to better suppress the melanoma metastasis. PMID: 27869170
  27. Basic functions of MITF in melanocytes and melanoma are reviewed. PMID: 28263292
  28. Our results demonstrate that MITF-E318K reduces the program of senescence to potentially favor melanoma progression in vivo. PMID: 28376192
  29. The germline variant MITF, p.E318K is associated with an increased risk of other neural crest-derived tumors such as PCC/PGL. PMID: 27680874
  30. microenvironmental cues, including inflammation-mediated resistance to adoptive T-cell immunotherapy, transcriptionally repress MITF via ATF4 in response to inhibition of translation initiation factor eIF2B PMID: 28096186
  31. GPER enhances melanogenesis via PKA by upregulating microphthalmia-related transcription factor-tyrosinase in melanoma PMID: 27378491
  32. Data show that TFAP2A binds many of the same regulatory elements as MITF in melanocytes. PMID: 28249010
  33. description of a syndrome, termed COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations PMID: 27889061
  34. Data indicate that NFIB protein increases EZH2 protein expression downstream of BRN2 protein, which further decreases MITF protein levels. PMID: 28119061
  35. Overall, in melanoma lymph node metastases, MITF protein expression was not tightly correlated with its gene targets. PMID: 27515936
  36. DRD4 antagonist has an antimelanogenic effect that is related to downregulation of MITF transcription through the activation of the ERK PMID: 26782007
  37. Akt modulates nuclear translocation of MITF. PMID: 28165011
  38. Our studies have established that the cooperative antiproliferative effects of aspirin and I3C in human melanoma cells trigger a significant downregulation of MITF-M gene expression and disruption of MITF-M promoter activity. results demonstrate that aspirin-regulated Wnt signaling and I3C-targeted signaling pathways converge at distinct DNA elements in the MITF-M promoter to cooperatively disrupt MITF-M expression PMID: 27055402
  39. Addition of MITF>/=50% into the logistic regression analysis significantly improves the accuracy of the melanoma nomogram in prediction of regional nodal spread PMID: 27919990
  40. The MITF p.E318K mutation does not appear to play a major role in sporadic renal cell carcinoma carcinogenesis, but is possibly restricted to a rare subpopulation of inherited renal cell carcinoma PMID: 26999813
  41. Overexpression of MITF is associated with melanoma cell survival and progression. PMID: 27185926
  42. We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE. PMID: 26876013
  43. A concomitant AURKA/BRAF and AURKA/MEK targeting overcame MAPK signaling activation-associated resistance signature in BRAF- and NRAS-mutated melanomas, respectively, and elicited heightened anti-proliferative activity and apoptotic cell death. PMID: 26962685
  44. Results show that Mitf, probably including Mitf-M, is expressed in the mitral cells and tufted cells that transmit the information derived from olfactory sensory neurons to the olfactory cortex. PMID: 26522736
  45. SOX5 has a strong inhibitory effect on MITF expression and seems to have a decisive clinical impact on melanoma during tumor progression. PMID: 26927636
  46. In addition to melanoma risk, MITF p.E318K is associated with a high nevi count and could play a role in fast-growing melanomas. PMID: 26650189
  47. expression of the molecular marker Mitf in primary cutaneous melanomas is a useful tool in assessing lymph node status. PMID: 26317170
  48. an MITF-CEACAM1 axis is suggested as a potential determinant of melanoma progression. PMID: 26301891
  49. LEF-1 and MITF regulate tyrosinase gene transcription in vitro via binding to its promoter. PMID: 26580798
  50. Here we show that MITF-A mRNA is predominantly expressed in all three human liver cancer cell lines examined. PMID: 26773496

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Involvement in disease
Waardenburg syndrome 2A (WS2A); Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA); Tietz albinism-deafness syndrome (TADS); Melanoma, cutaneous malignant 8 (CMM8); Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)
Subcellular Location
Nucleus. Cytoplasm.
Protein Families
MiT/TFE family
Tissue Specificity
Expressed in melanocytes (at protein level).; [Isoform A2]: Expressed in the retinal pigment epithelium, brain, and placenta. Expressed in the kidney.; [Isoform C2]: Expressed in the kidney and retinal pigment epithelium.; [Isoform H1]: Expressed in the k
Database Links

HGNC: 7105

OMIM: 103470

KEGG: hsa:4286

STRING: 9606.ENSP00000295600

UniGene: Hs.166017

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