======= MITF ======= == Gene Information == * **Official Symbol**: MITF * **Official Name**: melanocyte inducing transcription factor * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4286|4286]] * **UniProt**: [[https://www.uniprot.org/uniprot/O75030|O75030]] * **Interactions**: [[https://thebiogrid.org/search.php?search=MITF&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MITF|Open PubMed]] * **OMIM**: [[https://omim.org/entry/156845|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: N/A |DUF3371| |HLH| |canonical Wnt signaling pathway involved in negative regulation of apoptotic process| |melanocyte differentiation| |positive regulation of DNA-templated transcription, initiation| |pigment cell differentiation| |regulation of DNA-templated transcription, initiation| |developmental pigmentation| |osteoclast differentiation| |bone remodeling| |E-box binding| |regulation of osteoclast differentiation| |canonical Wnt signaling pathway| |pigmentation| |tissue remodeling| |myeloid leukocyte differentiation| |regulation of myeloid leukocyte differentiation| |protein dimerization activity| |myeloid cell differentiation| |regulation of myeloid cell differentiation| |DNA-binding transcription repressor activity, RNA polymerase II-specific| |cell fate commitment| |negative regulation of cell migration| |regulation of leukocyte differentiation| |negative regulation of cell motility| |negative regulation of cellular component movement| |camera-type eye development| |negative regulation of locomotion| |leukocyte differentiation| |Wnt signaling pathway| |cell-cell signaling by wnt| |eye development| |visual system development| |sensory system development| |chromatin binding| |cell surface receptor signaling pathway involved in cell-cell signaling| |DNA-binding transcription activator activity, RNA polymerase II-specific| |regulation of hemopoiesis| |RNA polymerase II proximal promoter sequence-specific DNA binding| |sensory organ development| |hemopoiesis| |protein-containing complex| |hematopoietic or lymphoid organ development| |transcription, DNA-templated| |nucleic acid-templated transcription| |immune system development| |RNA biosynthetic process| |regulation of cell migration| |negative regulation of transcription by RNA polymerase II| |negative regulation of apoptotic process| |negative regulation of programmed cell death| |regulation of cell motility| |regulation of locomotion| |negative regulation of cell death| |regulation of cellular component movement| |nucleobase-containing compound biosynthetic process| |cell-cell signaling| |heterocycle biosynthetic process| |aromatic compound biosynthetic process| |negative regulation of transcription, DNA-templated| |positive regulation of transcription by RNA polymerase II| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |organic cyclic compound biosynthetic process| |negative regulation of RNA metabolic process| |negative regulation of cellular macromolecule biosynthetic process| |negative regulation of nucleobase-containing compound metabolic process| |negative regulation of macromolecule biosynthetic process| |negative regulation of cellular biosynthetic process| |positive regulation of transcription, DNA-templated| |regulation of apoptotic process| |negative regulation of biosynthetic process| |protein-containing complex assembly| |DNA-binding transcription factor activity, RNA polymerase II-specific| |regulation of programmed cell death| |regulation of cell population proliferation| |cellular nitrogen compound biosynthetic process| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |regulation of immune system process| |RNA metabolic process| |regulation of cell death| |cellular macromolecule biosynthetic process| |negative regulation of gene expression| |positive regulation of RNA metabolic process| |macromolecule biosynthetic process| |regulation of cell differentiation| |protein-containing complex subunit organization| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |gene expression| |positive regulation of biosynthetic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp531|THZ1 0.06μM R08 exp531]]|-2.05| |[[:results:exp247|UM0130462 0.025 to 0.035μM day4 R05 exp247]]|-1.91| |[[:results:exp389|PF-06409577 20μM R07 exp389]]|-1.83| |[[:results:exp435|JQ1 0.8μM R08 exp435]]|-1.72| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 9/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|5/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 15502 * **Expression level (log2 read counts)**: 0.47 {{:chemogenomics:nalm6 dist.png?nolink |}}