SMG6 and MRPL12

		SMG6	MRPL12
Description		SMG6 nonsense mediated mRNA decay factor	mitochondrial ribosomal protein L12
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GO Annotations	Cellular Component	Chromosome, Telomeric Region Nucleus Chromosome Telomerase Holoenzyme Complex Nucleolus Cytoplasm Cytosol Plasma Membrane Exon-exon Junction Complex Ciliary Basal Body	Mitochondrion Mitochondrial Inner Membrane Mitochondrial Matrix Mitochondrial Large Ribosomal Subunit Ribosome Ribonucleoprotein Complex
	Molecular Function	DNA Binding RNA Binding Nuclease Activity Endonuclease Activity RNA Endonuclease Activity Protein Binding Hydrolase Activity Telomeric DNA Binding Ribonucleoprotein Complex Binding Metal Ion Binding Telomerase RNA Binding DNA Polymerase Binding	RNA Binding MRNA Binding Structural Constituent Of Ribosome Protein Binding
	Biological Process	Nuclear-transcribed MRNA Catabolic Process, Nonsense-mediated Decay MRNA Export From Nucleus Regulation Of Telomere Maintenance Regulation Of Telomere Maintenance Via Telomerase Regulation Of Dephosphorylation Negative Regulation Of Telomere Capping	Mitochondrial Transcription Translation Mitochondrial Translation Positive Regulation Of DNA-templated Transcription
Pathways		Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	Mitochondrial translation initiation Mitochondrial translation elongation Mitochondrial translation elongation Mitochondrial translation termination Mitochondrial protein degradation Mitochondrial ribosome-associated quality control
Drugs		Grn163l
Diseases
GWAS		Aortic root size ( 19584346) Apolipoprotein A1 levels ( 32203549) Autism spectrum disorder or schizophrenia ( 28540026) Body mass index ( 25673413 28892062) Body size at age 10 ( 32376654) Brain morphology (MOSTest) ( 32665545) Calcaneus stiffness index ( 30779856) Cannabis use ( 30150663) Coronary artery disease ( 29212778 24262325 33020668 26343387 32469254) Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) ( 28714975) Coronary heart disease ( 21378990) Esophageal cancer (squamous cell) ( 22960999) Estimated glomerular filtration rate ( 31152163) Femoral neck bone mineral density ( 29499414 32239398 22504420) Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass ( 32239398) Forehead morphology ( 29921221) Glaucoma (primary open-angle) ( 33627673) Heel bone mineral density ( 30598549 28869591) High light scatter reticulocyte count ( 32888494) High light scatter reticulocyte percentage of red cells ( 32888494) Hip circumference adjusted for BMI ( 34021172) Hip index ( 34021172) Intraocular pressure ( 29617998 29235454) Lymphocyte count ( 32888494) Mean corpuscular hemoglobin ( 32888494) Metabolite levels (5-HIAA) ( 23319000) Mitral valve prolapse ( 26301497) Monocyte count ( 32888494 27863252) Multiple sclerosis ( 31604244) Myocardial infarction ( 33532862 26343387) Neutrophil count ( 32888494) Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis) ( 29678681) Platelet count ( 27863252 32888494) Plateletcrit ( 27863252 32888494) Pulse pressure ( 27841878) Reticulocyte count ( 32888494) Reticulocyte fraction of red cells ( 32888494) Schizophrenia ( 29483656 25056061) Smoking initiation ( 30617275) Smoking status (ever vs never smokers) ( 30643258) Systolic blood pressure ( 27841878 30578418) Venous thromboembolism ( 31420334) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172) White blood cell count ( 32888494 27863252)	LDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes ( 28736931) Refractive error ( 32231278) Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes ( 28736931)
Interacting Genes		5 interacting genes: MEOX2 PPP1CC RNF10 SMG5 TERT	25 interacting genes: CBX3 COX6A2 DRC8 EFEMP2 EXOC3L2 FBLN1 KRTAP10-1 MAPRE3 MICOS10-NBL1 MORF4L1 MORF4L2 NBL1 NTAQ1 NTM OLIG1 POLR1D PPP1R16A RARG SAT1 SEPTIN1 TMEM51 TRIM59 TXNDC9 UBC ZNF76
Entrez ID		23293	6182
HPRD ID		06502	03849
Ensembl ID		ENSG00000070366	ENSG00000262814
Uniprot IDs		Q86US8	P52815
PDB IDs		2DOK 2HWW 2HWX 4UM2 8RXB	6VLZ 6VMI 6ZM5 6ZM6 6ZS9 6ZSA 6ZSB 6ZSC 6ZSD 6ZSE 6ZSG 7L08 7L20 7O9K 7O9M 7OG4 7PO2 7PO4 7QI4 7QI5 7QI6 8ANY 8OIR 8OIT
Enriched GO Terms of Interacting Partners?		Regulation Of Systemic Arterial Blood Pressure By Aortic Arch Baroreceptor Feedback Nuclear Speck Regulation Of Glial Cell Proliferation Cellular Response To Epidermal Growth Factor Stimulus Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Desmosome Disassembly Response To Epidermal Growth Factor Telomerase RNA Binding Telomeric DNA Binding TERT-RMRP Complex Template-free RNA Nucleotidyltransferase Positive Regulation Of Transdifferentiation RNA-directed RNA Polymerase Complex Telomerase Holoenzyme Complex SiRNA Transcription Regulation Of Dephosphorylation Positive Regulation Of Renal Water Transport Phosphatidylinositol Trisphosphate Phosphatase Activity PH-gated Sodium Channel Activity Monoatomic Ion-gated Channel Activity Roof Of Mouth Development Phosphatase Activity Negative Regulation Of Vitamin D Receptor Signaling Pathway Cell-cell Junction Disassembly Positive Regulation Of Hair Cycle Regulation Of D-glucose Transmembrane Transport Telomerase Catalytic Core Complex Cell Migration Involved In Endocardial Cushion Formation Regulation Of Stem Cell Proliferation RNA-directed RNA Polymerase Activity RNA-templated Transcription RNA-directed DNA Polymerase Activity U5 SnRNA Binding Inositol Bisphosphate Phosphatase Activity Inositol Trisphosphate Phosphatase Activity Phosphatidylinositol Phosphate 5-phosphatase Activity	Elastic Fiber Determination Of Dorsal Identity Sequestering Of BMP In Extracellular Matrix Sequestering Of BMP From Receptor Via BMP Binding Morphogen Activity Negative Regulation Of Monocyte Chemotaxis Sequestering Of Extracellular Ligand From Receptor Extracellular Negative Regulation Of Signal Transduction BMP Binding Negative Regulation Of Leukocyte Chemotaxis Negative Regulation Of Stem Cell Proliferation NuA4 Histone Acetyltransferase Complex
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