MITF

Description		melanocyte inducing transcription factor
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Cytoplasm Lysosome Lysosomal Membrane Cytosol Membrane Protein-containing Complex
	Molecular Function	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Chromatin Binding DNA-binding Transcription Factor Activity Protein Binding Protein Dimerization Activity E-box Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Regulation Of Gene Expression Positive Regulation Of Gene Expression Wnt Signaling Pathway Cell Differentiation Osteoclast Differentiation Melanocyte Differentiation Negative Regulation Of Cell Migration Regulation Of Cell Population Proliferation Camera-type Eye Development Negative Regulation Of Apoptotic Process Pigmentation Cell Fate Commitment Regulation Of Osteoclast Differentiation Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Bone Remodeling Protein-containing Complex Assembly Melanocyte Apoptotic Process Positive Regulation Of DNA-templated Transcription Initiation Regulation Of RNA Biosynthetic Process
Pathways		SUMOylation of transcription factors Transcriptional and post-translational regulation of MITF-M expression and activity
Drugs
Diseases		Malignant melanoma Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type II (WS2-OA) Waardenburg syndrome (WS)
GWAS		Apolipoprotein B levels ( 32203549) Blond vs. brown/black hair color ( 30531825) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Carotid intima media thickness x smoking interaction ( 32117412) Chronotype ( 30696823) Circulating fibroblast growth factor 23 levels ( 30217807) Coronary artery disease ( 33020668) Cortical surface area (MOSTest) ( 32665545) Cutaneous malignant melanoma ( 32341527) Hematocrit ( 32888494 27863252) Hemoglobin ( 32888494) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 32327693) Hypertrophic cardiomyopathy (sarcomere negative) ( 33495597) LDL cholesterol levels ( 32203549) Low density lipoprotein cholesterol levels ( 32154731) Myocardial infarction ( 33532862) Neutrophil count ( 32888494) Nevus count or cutaneous melanoma ( 32341527) Platelet count ( 32888494) Plateletcrit ( 32888494) Pulse pressure ( 27841878) QRS complex (12-leadsum) ( 27659466) Red blood cell count ( 32888494 27863252) Renal underexcretion gout ( 32238385) Severe influenza A (H1N1) infection ( 26379185) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Systolic blood pressure ( 27841878) Triglyceride levels ( 32203549) Waist-hip index ( 34021172)
Novel Interacting Genes		35 novel interacting genes: ADRB2 APP BTRC CLK4 CTNNB1 EBP EP300 FBXO7 FBXW11 FOS GSK3B HINT1 HK3 LEF1 MAPK1 MAPK14 MARK3 OTX2 PATZ1 PAX3 PAX6 PDGFRB PIAS1 PIAS2 PIAS3 PSMD14 RERE RPS6KA1 SPI1 STUB1 SUMO1 TFE3 TFEB TFEC UBE2I
Interacting Genes		35 interacting genes: ADRB2 APP BTRC CLK4 CTNNB1 EBP EP300 FBXO7 FBXW11 FOS GSK3B HINT1 HK3 LEF1 MAPK1 MAPK14 MARK3 OTX2 PATZ1 PAX3 PAX6 PDGFRB PIAS1 PIAS2 PIAS3 PSMD14 RERE RPS6KA1 SPI1 STUB1 SUMO1 TFE3 TFEB TFEC UBE2I
Entrez ID		4286
HPRD ID		01138
Ensembl ID		ENSG00000187098
Uniprot IDs		A0A087WXU1 A0A8I5KSZ4 B4DNC7 O75030
PDB IDs		4C7N 7D8R 7D8S 7D8T 7EOD 8E1D
Enriched GO Terms of Interacting Partners?		Regulation Of DNA-templated Transcription Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of RNA Biosynthetic Process Regulation Of Primary Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Regulation Of RNA Metabolic Process Positive Regulation Of Metabolic Process Positive Regulation Of Macromolecule Metabolic Process Nucleus Positive Regulation Of RNA Metabolic Process Regulation Of Metabolic Process Regulation Of Macromolecule Metabolic Process Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of Biosynthetic Process Positive Regulation Of Macromolecule Biosynthetic Process Regulation Of Gene Expression Protein Modification Process Positive Regulation Of Transcription By RNA Polymerase II Nucleoplasm Negative Regulation Of RNA Metabolic Process Enzyme Binding Ubiquitin Protein Ligase Binding Regulation Of Intracellular Signal Transduction Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Transcription Coregulator Binding Negative Regulation Of Transcription By RNA Polymerase II Regulation Of Signal Transduction Post-translational Protein Modification Protein Sumoylation Cell Surface Receptor Signaling Pathway SUMO Transferase Activity Positive Regulation Of Cell Differentiation Chromatin Protein Metabolic Process Regulation Of Cell Differentiation Positive Regulation Of Developmental Process Regulation Of Hemopoiesis Positive Regulation Of Proteolysis Negative Regulation Of Intracellular Signal Transduction Regulation Of Myeloid Cell Differentiation Regulation Of Cell Communication Regulation Of Signaling Presynaptic Cytosol Postsynaptic Cytosol Chromatin Binding
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