MITF
Summary: The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is 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. [provided by RefSeq, Aug 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| melanogenesis associated transcription factor | MIM:156845 | Ensembl:ENSG00000187098 | HGNC:HGNC:7105 | PA30823 | 3p13 |
GO terms in MITF
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IMP | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0006355 | regulation of transcription, DNA-templated |
| BP | NAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IDA | GO:0010628 | positive regulation of gene expression |
| BP | IMP | GO:0010628 | positive regulation of gene expression |
| BP | IEA | GO:0030316 | osteoclast differentiation |
| BP | IBA | GO:0030318 | melanocyte differentiation |
| BP | NAS | GO:0030318 | melanocyte differentiation |
| BP | IEA | GO:0042127 | regulation of cell proliferation |
| BP | IEA | GO:0043010 | camera-type eye development |
| BP | IEA | GO:0044336 | canonical Wnt signaling pathway involved in negative regulation of apoptotic process |
| BP | IEA | GO:0045165 | cell fate commitment |
| BP | IEA | GO:0045670 | regulation of osteoclast differentiation |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | NAS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0046849 | bone remodeling |
| BP | IDA | GO:0065003 | protein-containing complex assembly |
| BP | IDA | GO:2000144 | positive regulation of DNA-templated transcription, initiation |
| BP | IDA | GO:2001141 | regulation of RNA biosynthetic process |
| CC | IDA | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0032991 | protein-containing complex |
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IMP | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | NAS | GO:0001227 | transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | IEA | GO:0003705 | transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046983 | protein dimerization activity |
| MF | IDA | GO:0070888 | E-box binding |
Gene expression in normal tissue: MITF
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MITF
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-3232118 | SUMOylation of transcription factors |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-597592 | Post-translational protein modification |
| biocarta | melanocytepathway | melanocyte development and pigmentation pathway |
| pid | betacatenin_nuc_pathway | Regulation of nuclear beta catenin signaling and target gene transcription |
| pid | il6_7pathway | IL6-mediated signaling events |
| pid | kitpathway | Signaling events mediated by Stem cell factor receptor (c-Kit) |
| pid | p38alphabetadownstreampathway | Signaling mediated by p38-alpha and p38-beta |
| pid | rb_1pathway | Regulation of retinoblastoma protein |
| kegg | hsa04137 | Mitophagy - animal - Homo sapiens (human) |
| kegg | hsa04380 | Osteoclast differentiation - Homo sapiens (human) |
| kegg | hsa04916 | Melanogenesis - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05218 | Melanoma - Homo sapiens (human) |
| netpath | Pathway_KitReceptor | KitReceptor |
| wikipathways | WP2018 | RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway |
| wikipathways | WP2064 | Neural Crest Differentiation |
| wikipathways | WP304 | Kit receptor signaling pathway |
| wikipathways | WP98 | Prostaglandin Synthesis and Regulation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD210 | AC55649 | 3 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD79 | Gemcitabine | 3 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD839 | BRAF inhibitor | 2 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD356 | PNU-74654 | 3 |
| iGMDRD451 | Serdemetan | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MITF
CLASSFICATION
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