MMADHC and EPC2

		MMADHC	EPC2
Description		metabolism of cobalamin associated D	enhancer of polycomb 2
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Mitochondrion Cytosol	Nucleosome Nucleus Piccolo Histone Acetyltransferase Complex NuA4 Histone Acetyltransferase Complex
	Molecular Function	Protein Binding Molecular Carrier Activity
	Biological Process	Cobalamin Metabolic Process	DNA Repair Chromatin Organization Regulation Of Transcription By RNA Polymerase II DNA Damage Response Regulation Of Apoptotic Process Positive Regulation Of DNA-templated Transcription Regulation Of Cell Cycle Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of Double-strand Break Repair
Pathways		Defective MMADHC causes MMAHCD Cobalamin (Cbl) metabolism
Drugs
Diseases		Methylmalonic aciduria (MMA)
GWAS		Daytime sleep phenotypes ( 27126917) Liver enzyme levels (alanine transaminase) ( 24124411) Neonatal total 25-hydroxyvitamin D levels (fetal genetic effect) ( 32047095)	Alzheimer's disease biomarkers ( 21123754) Chronotype ( 30696823) Metabolite levels ( 23823483) Protein quantitative trait loci ( 18464913) Pulse pressure ( 30578418) Relative amplitude of rest-activity cycles ( 30120083) Schizophrenia ( 29483656 30285260) Type 2 diabetes ( 30718926 32499647)
Interacting Genes		6 interacting genes: CINP CREB5 MMACHC POU4F2 PRNP TBC1D7	2 interacting genes: EED EZH2
Entrez ID		27249	26122
HPRD ID		10781	13274
Ensembl ID		ENSG00000168288	ENSG00000135999
Uniprot IDs		Q9H3L0	Q52LR7
PDB IDs		5CUZ 5CV0 6X8Z
Enriched GO Terms of Interacting Partners?			Pronucleus ESC/E(Z) Complex Facultative Heterochromatin Formation Chromatin Silencing Complex Nucleosome Binding Transcription Corepressor Binding Hepatocyte Homeostasis Peptidase Complex Cellular Response To Trichostatin A Melanocyte Apoptotic Process Regulation Of Adaxial/abaxial Pattern Formation Heterochromatin Formation Histone H3K27 Trimethyltransferase Activity Response To Tetrachloromethane Negative Regulation Of Cell Proliferation Involved In Contact Inhibition Positive Regulation Of Protein K48-linked Ubiquitination Negative Regulation Of Gene Expression, Epigenetic Skeletal Muscle Satellite Cell Maintenance Involved In Skeletal Muscle Regeneration Melanocyte Proliferation Regulation Of Collagen Catabolic Process Negative Regulation Of Interferon-alpha Production Histone H3K27 Methyltransferase Activity Regulation Of Protein K48-linked Ubiquitination Negative Regulation Of Retinoic Acid Receptor Signaling Pathway Cerebellar Cortex Development Sex Chromatin Primary MiRNA Binding Negative Regulation Of Gene Expression Epigenetic Regulation Of Gene Expression Negative Regulation Of Keratinocyte Differentiation Cobalamin Metabolic Process Cellular Response To Antibiotic Subtelomeric Heterochromatin Formation Negative Regulation Of Extracellular Matrix Disassembly Molecular Carrier Activity Regulation Of Retinoic Acid Receptor Signaling Pathway Regulation Of Multicellular Organismal Process Cardiac Muscle Hypertrophy In Response To Stress Negative Regulation Of Cytokine Production Negative Regulation Of Epidermal Cell Differentiation Dipeptidyl-peptidase Activity G1 To G0 Transition Positive Regulation Of Dendrite Development Negative Regulation Of Interferon-beta Production Positive Regulation Of Protein Modification Process Basal Part Of Cell Regulation Of Fibrinolysis Positive Regulation Of Protein Polyubiquitination
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