General Information of the Molecule (ID: Mol00499)
Name
Microphthalmia-associated transcription factor (MITF) ,Homo sapiens
Synonyms
Class E basic helix-loop-helix protein 32; bHLHe32; BHLHE32
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Molecule Type
Protein
Gene Name
MITF
Gene ID
4286
Location
chr3:69739456-69968336[+]
Sequence
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLR
QQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQ
THLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNS
PMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTE
SEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDY
IRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNR
IIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSK
LEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC
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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.
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Uniprot ID
MITF_HUMAN
Ensembl ID
ENSG00000187098
HGNC ID
HGNC:7105
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Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
Type(s) of Resistant Mechanism of This Molecule
  UAPP: Unusual Activation of Pro-survival Pathway
Drug Resistance Data Categorized by Drug
Approved Drug(s)
1 drug(s) in total
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Dexamethasone
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Drug Sensitivity Data Categorized by Their Corresponding Mechanisms
       Unusual Activation of Pro-survival Pathway (UAPP) Click to Show/Hide
Disease Class: Multiple myeloma [1]
Sensitive Disease Multiple myeloma [ICD-11: 2A83.0]
Sensitive Drug Dexamethasone
Molecule Alteration Expression
Down-regulation
Experimental Note Revealed Based on the Cell Line Data
Cell Pathway Regulation Cell apoptosis Activation hsa04210
Cell proliferation Inhibition hsa05200
PI3K/AKT signaling pathway Regulation hsa04151
In Vitro Model U266 cells Bone marrow Homo sapiens (Human) CVCL_0566
RPMI-8226 cells Peripheral blood Homo sapiens (Human) CVCL_0014
Experiment for
Molecule Alteration
Western blot analysis
Experiment for
Drug Resistance
MTT assay
Mechanism Description miR-137 can improve the dexamethasone sensitivity in multiple myeloma cells by reducing the c-MET expression and further decreasing the AkT phosphorylation via targeting MITF.
Disease- and Tissue-specific Abundances of This Molecule
ICD Disease Classification 02
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Multiple myeloma [ICD-11: 2A83]
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Differential expression of molecule in resistant diseases
The Studied Tissue Bone marrow
The Specified Disease Multiple myeloma
The Expression Level of Disease Section Compare with the Healthy Individual Tissue p-value: 3.25E-01; Fold-change: -2.04E-01; Z-score: -3.83E-01
Molecule expression in the diseased tissue of patients
Molecule expression in the normal tissue of healthy individuals
Disease-specific Molecule Abundances Click to View the Clearer Original Diagram
The Studied Tissue Peripheral blood
The Specified Disease Multiple myeloma
The Expression Level of Disease Section Compare with the Healthy Individual Tissue p-value: 4.99E-01; Fold-change: 2.33E-03; Z-score: 1.49E-02
Molecule expression in the diseased tissue of patients
Molecule expression in the normal tissue of healthy individuals
Disease-specific Molecule Abundances Click to View the Clearer Original Diagram
Tissue-specific Molecule Abundances in Healthy Individuals
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References
Ref 1 miR-137 Suppresses the Phosphorylation of AKT and Improves the Dexamethasone Sensitivity in Multiple Myeloma Cells Via Targeting MITF. Curr Cancer Drug Targets. 2016;16(9):807-817. doi: 10.2174/1568009616666160203114140.

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