TOMM40

Description		translocase of outer mitochondrial membrane 40
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GO Annotations	Cellular Component	Mitochondrion Mitochondrial Outer Membrane Mitochondrial Outer Membrane Translocase Complex Mitochondrial Inner Membrane Cytosol Membrane Mitochondria-associated Endoplasmic Reticulum Membrane Contact Site Pore Complex TOM Complex
	Molecular Function	Protein Binding Protein Transmembrane Transporter Activity Porin Activity
	Biological Process	Protein Targeting To Mitochondrion Monoatomic Ion Transport Protein Transport Protein Import Into Mitochondrial Matrix Protein Insertion Into Mitochondrial Outer Membrane Transmembrane Transport
Pathways		Mitochondrial protein import PINK1-PRKN Mediated Mitophagy
Drugs
Diseases
GWAS		Age-related macular degeneration ( 22694956 23326517) Alzheimer's disease ( 18823527 19125160 19734902 20061627 22832961 24755620 24770881 29107063 30636644) Alzheimer's disease (age of onset) ( 22005931 29107063) Alzheimer's disease (late onset) ( 20885792 23565137 26339675) Alzheimer's disease (onset between ages 58 and 79) ( 30979435) Alzheimer's disease biomarkers ( 21123754 23419831 23562540) Alzheimer's disease in hypertension ( 31055733) Alzheimer's disease in hypertension-negative individuals ( 31055733) Alzheimer's disease or family history of Alzheimer's disease ( 30617256) Alzheimer's disease or HDL levels (pleiotropy) ( 30805717) BMI (adjusted for smoking behaviour) ( 28443625) BMI in non-smokers ( 28443625) Body fat percentage ( 26833246) Body fat percentage and coronary artery disease (pairwise) ( 33619380) Body fat percentage and HDL-C (pairwise) ( 33619380) Body fat percentage and LDL-C (pairwise) ( 33619380) Body fat percentage and triglycerides (pairwise) ( 33619380) Body mass index ( 25673413 26426971) Body mass index (age>50) ( 26426971) Body mass index (joint analysis main effects and smoking interaction) ( 28443625) Body mass index and coronary artery disease (pairwise) ( 33619380) Body mass index and HDL-C (pairwise) ( 33619380) Body mass index and LDL-C (pairwise) ( 33619380) Body mass index and triglycerides (pairwise) ( 33619380) Body mass index x age interaction ( 26426971) Body mass index x sex x age interaction (4df test) ( 26426971) Brain imaging ( 20100581) C-reactive protein ( 22939635) Cardiovascular disease risk factors ( 21943158) Carotid intima media thickness (maximum) ( 31801372) Carotid intima media thickness (mean) ( 31801372) Cerebral amyloid deposition (PET imaging) ( 26252872 30361487) Cerebral amyloid deposition positivity (PET imaging) ( 26252872) Cerebrospinal AB1-42 levels in Alzheimer's disease dementia ( 29274321) Cerebrospinal AB1-42 levels in mild cognitive impairment ( 29274321) Cerebrospinal fluid AB1-42 levels ( 20932310 28247064 28641921 29274321 30319691) Cerebrospinal fluid p-tau levels in mild cognitive impairment ( 29274321) Cerebrospinal fluid p-Tau181p:AB1-42 ratio ( 30319691) Cerebrospinal fluid t-tau levels ( 28641921 29274321) Cerebrospinal fluid t-tau levels in mild cognitive impairment ( 29274321) Cerebrospinal fluid t-tau:AB1-42 ratio ( 28641921 30319691) Cerebrospinal P-tau181p levels ( 28247064) Cerebrospinal T-tau levels ( 28247064) Cholesterol, total ( 19060911) Cingulate cortical amyloid beta load ( 26421299) Cognitive decline ( 22054870 23207651) Cognitive decline (age-related) ( 24468470 28078323) Cognitive function ( 25644384) Cognitive impairment test score ( 30319691) Coronary artery disease ( 29212778) Fish- and plant-related diet ( 32066663) Fruit consumption ( 32066663) HDL cholesterol ( 19060911 21909109) Hippocampal atrophy rate ( 31760383) Hippocampal volume ( 29274321) Hippocampal volume in Alzheimer's disease dementia ( 29274321) Lamb consumption ( 32066663) LDL cholesterol ( 19060911 26160806) LDL cholesterol levels ( 26763881) Lipid traits ( 24386095) Lipoprotein (a) levels ( 33730874) Logical memory (delayed recall) ( 29274321) Logical memory (immediate recall) ( 29274321) Longevity ( 21418511 33657282) Meat-related diet ( 32066663) Medication use (HMG CoA reductase inhibitors) ( 31015401) Mental health study participation (completed survey) ( 31263887) Metabolic syndrome ( 22399527) Posterior cortical atrophy and Alzheimer's disease ( 26993346) Quantitative traits ( 19197348) Refractive error ( 32231278) Sense of smell ( 26632684) Serum metabolite levels ( 31636271) Serum metabolite levels (CMS) ( 31636271) Serum type 1 collagen metabolite levels ( 33134509) Triglycerides ( 19060911) Type 2 diabetes ( 27189021 30297969) Verbal declarative memory ( 25648963) Verbal memory performance (immediate recall change) ( 28800603) Verbal memory performance (residualized delayed recall level) ( 28800603) Waist circumference ( 25673412) Waist-hip index ( 34021172) Waist-hip ratio ( 25673412) Waist-hip ratio and coronary artery disease (pairwise) ( 33619380) Waist-hip ratio and HDL-C (pairwise) ( 33619380) Waist-hip ratio and LDL-C (pairwise) ( 33619380) Waist-hip ratio and triglycerides (pairwise) ( 33619380) Waist-to-hip ratio adjusted for BMI ( 34021172)
Interacting Genes		6 interacting genes: HSD17B10 HSP90AA1 HSPA4 MTX1 PRKN TOMM7
Entrez ID		10452
HPRD ID		16274
Ensembl ID		ENSG00000130204
Uniprot IDs		O96008
PDB IDs		7CK6 7CP9 7VBY 7VC4 7VD2 7VDD 8XVA 9EIH 9EII 9EIJ
Enriched GO Terms of Interacting Partners?		Protein Localization To Mitochondrion Establishment Of Protein Localization To Mitochondrion Protein Import Into Mitochondrial Matrix Mitochondrion Organization Protein Transmembrane Transport Response To Unfolded Protein Establishment Of Protein Localization To Organelle Inclusion Body Assembly Positive Regulation Of Type 2 Mitophagy Protein Insertion Into Mitochondrial Outer Membrane Chaperone-mediated Protein Complex Assembly Protein Localization To Organelle Positive Regulation Of Mitophagy Mitochondrial Outer Membrane Positive Regulation Of Autophagy Of Mitochondrion Mitochondrion Protein Insertion Into Mitochondrial Membrane Establishment Of Protein Localization To Mitochondrial Membrane Intracellular Protein Localization ATP-dependent Protein Folding Chaperone Mitochondrial Transport Regulation Of Protein Targeting To Mitochondrion Regulation Of Mitophagy Positive Regulation Of Establishment Of Protein Localization Regulation Of Autophagy Of Mitochondrion Regulation Of Protein Stability Protein Transport Protein Insertion Into Membrane Regulation Of Postsynaptic Membrane Neurotransmitter Receptor Levels Isoursodeoxycholate 7-beta-dehydrogenase (NAD+) Activity Chenodeoxycholate 7-alpha-dehydrogenase (NAD+) Activity 3-hydroxy-2-methylbutyryl-CoA Dehydrogenase Activity Cholate 7-alpha-dehydrogenase (NAD+) Activity Ursodeoxycholate 7-beta-dehydrogenase (NAD+) Activity CTP Binding DATP Binding Negative Regulation Of Spontaneous Neurotransmitter Secretion Organelle Organization Protein-containing Complex Assembly Establishment Of Protein Localization Regulation Of Biological Quality Positive Regulation Of Macroautophagy 17-beta-hydroxysteroid Dehydrogenase (NAD+) Activity Brexanolone Metabolic Process Protein-containing Complex Organization Regulation Of Establishment Of Protein Localization Neurofibrillary Tangle Assembly UTP Binding Positive Regulation Of Catabolic Process Sulfonylurea Receptor Binding
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