Browse MITF

Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Nucleus
Domain PF11851 Domain of unknown function (DUF3371)
PF00010 Helix-loop-helix DNA-binding domain
PF15951 MITF/TFEB/TFEC/TFE3 N-terminus
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 Ontology
 
Biological Process GO:0002521 leukocyte differentiation
GO:0002573 myeloid leukocyte differentiation
GO:0002761 regulation of myeloid leukocyte differentiation
GO:0006352 DNA-templated transcription, initiation
GO:0016925 protein sumoylation
GO:0018205 peptidyl-lysine modification
GO:0030099 myeloid cell differentiation
GO:0030316 osteoclast differentiation
GO:0030318 melanocyte differentiation
GO:0031334 positive regulation of protein complex assembly
GO:0043254 regulation of protein complex assembly
GO:0043473 pigmentation
GO:0044089 positive regulation of cellular component biogenesis
GO:0045637 regulation of myeloid cell differentiation
GO:0045670 regulation of osteoclast differentiation
GO:0048066 developmental pigmentation
GO:0050900 leukocyte migration
GO:0050931 pigment cell differentiation
GO:0097529 myeloid leukocyte migration
GO:0097531 mast cell migration
GO:1902105 regulation of leukocyte differentiation
GO:1903706 regulation of hemopoiesis
GO:2000142 regulation of DNA-templated transcription, initiation
GO:2000144 positive regulation of DNA-templated transcription, initiation
Molecular Function GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0000987 core promoter proximal region sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001159 core promoter proximal region DNA binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
Cellular Component -
> KEGG and Reactome Pathway
 
KEGG hsa04380 Osteoclast differentiation
hsa04916 Melanogenesis
Reactome R-HSA-392499: Metabolism of proteins
R-HSA-597592: Post-translational protein modification
R-HSA-3108232: SUMO E3 ligases SUMOylate target proteins
R-HSA-2990846: SUMOylation
R-HSA-3232118: SUMOylation of transcription factors
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between MITF and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 
  Literatures describing the relation between MITF and anti-tumor immunity in human cancer.
PMID Cancer type Relation to immunity Evidence sentences
20099279MelanomaPromote immunityMITF-M regulates the expression of melanocyte differentiation genes such as MLANA, tyrosinase and gp100, which encode antigens recognized on melanoma cells by autologous cytolytic T lymphocytes.
28096186MelanomaInhibit immunityIn melanoma, low expression of the lineage survival oncogene microphthalmia-associated transcription factor (MITF) correlates with invasion, senescence, and drug resistance. Here we show that 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.
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of MITF in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NS NA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NS NA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR Second most enriched score: 0.54 Sensitive to T cell-mediated killing
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NS NA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NS NA/NS
24476824shRNAmelanomaB16Primary screen NA/NS NA/NS
24476824shRNAmelanomaB16Secondary screen NA/NS NA/NS
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of MITF in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.6310.345
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)651.3280.597
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)870.1130.955
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.4210.308
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.4970.774
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.330.873
729033130MelanomaallAnti-PD-1 (nivolumab) 2623-0.2480.602
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 1511-0.4540.839
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.070.978
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-0.440.714
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 28-0.120.944
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.4830.00151
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of MITF in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.71.42.30.469
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.71.720.532
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21170001
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13110001
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160001
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38270001
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22130001
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of MITF. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of MITF. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by MITF.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of MITF. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of MITF expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between MITF and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolMITF
Namemicrophthalmia-associated transcription factor
Aliases MI; bHLHe32; homolog of mouse microphthalmia; WS2A; WS2; Waardenburg syndrome, type 2A; class E basic helix- ......
Chromosomal Location3p14.1-p12.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting MITF collected from DrugBank database.
> Drugs from DrugBank database
 

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