AMBRA1 and KBTBD4

		AMBRA1	KBTBD4
Description		autophagy and beclin 1 regulator 1	kelch repeat and BTB domain containing 4
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GO Annotations	Cellular Component	Nucleus Cytoplasm Mitochondrion Mitochondrial Outer Membrane Autophagosome Endoplasmic Reticulum Cytosol Cytoskeleton Focal Adhesion Axoneme Cytoplasmic Vesicle Intracellular Membrane-bounded Organelle Phagocytic Vesicle Perinuclear Region Of Cytoplasm Anchoring Junction Cul4-RING E3 Ubiquitin Ligase Complex
	Molecular Function	Protein Binding Protein Phosphatase Binding Ubiquitin Protein Ligase Binding GTPase Binding Protein Phosphatase Activator Activity Ubiquitin-like Ligase-substrate Adaptor Activity	Protein Binding
	Biological Process	Autophagosome Assembly G1/S Transition Of Mitotic Cell Cycle Protein Polyubiquitination Mitophagy Regulation Of Transcription By RNA Polymerase II Autophagy Nervous System Development Negative Regulation Of Cell Population Proliferation Cellular Response To Starvation Positive Regulation Of Autophagy Negative Regulation Of Cardiac Muscle Cell Apoptotic Process Protein Ubiquitination Neural Tube Development Cell Differentiation Response To Nutrient Levels Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Neuron Apoptotic Process Positive Regulation Of Regulatory T Cell Differentiation Positive Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Response To Mitochondrial Depolarisation Positive Regulation Of Mitophagy Positive Regulation Of Free Ubiquitin Chain Polymerization Regulation Of G1/S Transition Of Mitotic Cell Cycle
Pathways		Macroautophagy
Drugs
Diseases
GWAS		Alzheimer's disease or fasting glucose levels (pleiotropy) ( 30805717) Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Autism spectrum disorder or schizophrenia ( 28540026) Body mass index ( 28552196) Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) ( 31374203) Hypertrophic cardiomyopathy (sarcomere positive) ( 33495597) Immunoglobulin A ( 20694011) Insulin-related traits (multivariate analysis) ( 32002517) Normal facial asymmetry (angle of deformation score) ( 30631343) Schizophrenia ( 28991256 29483656 30285260) Selective IgA deficiency ( 27723758)	Alzheimer's disease or fasting glucose levels (pleiotropy) ( 30805717) Bipolar disorder ( 31043756) Body fat distribution (arm fat ratio) ( 30664634) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Brain morphology (MOSTest) ( 32665545) Fruit consumption ( 32066663) Loneliness ( 29970889) Loneliness (MTAG) ( 29970889) Mood instability ( 31168069) Neuroticism ( 29255261) Sleep duration (short sleep) ( 30846698)
Interacting Genes		15 interacting genes: AKT1 BECN1 CCND1 CHUK GABARAP GABARAPL1 GABARAPL2 MAP1LC3A MAP1LC3B MAP1LC3C MTOR RNF2 SNCA UBC UBE2D3	4 interacting genes: MPP3 PTEN TRIM55 TRIM63
Entrez ID		55626	55709
HPRD ID		10975	13757
Ensembl ID		ENSG00000110497	ENSG00000123444
Uniprot IDs		A0A075B6T1 Q9C0C7	Q9NVX7
PDB IDs		8WQR	2EQX 8VOJ 8VPQ 8VRT 9DTG 9DTQ
Enriched GO Terms of Interacting Partners?		Cellular Response To Nitrogen Starvation Phosphatidylethanolamine Binding Autophagosome Assembly Autophagosome Maturation Autophagosome Organization Mitophagy Cellular Response To Starvation Response To Starvation Autophagy Of Mitochondrion Autophagosome Cellular Response To Nutrient Levels Macroautophagy Vacuole Organization Autophagosome Membrane Phospholipid Binding Response To Nutrient Levels Protein-containing Complex Disassembly Autophagy Ubiquitin Protein Ligase Binding Response To Iron(II) Ion Response To Iron Ion Cellular Response To Stress Beta-tubulin Binding Cellular Response To Amino Acid Starvation GABA Receptor Binding Response To Amino Acid Starvation Organelle Assembly Cellular Response To Copper Ion Cytoplasmic Vesicle Negative Regulation Of Catabolic Process Catabolic Process Negative Regulation Of Lysosome Organization Cellular Response To Oxygen-glucose Deprivation Negative Regulation Of Autophagy Response To Copper Ion Negative Regulation Of Macroautophagy Microtubule Binding Organelle Organization Endomembrane System Regulation Of Generation Of Precursor Metabolites And Energy Response To Stress Organelle Membrane Cellular Response To Decreased Oxygen Levels Response To Vitamin E Generation Of Precursor Metabolites And Energy Cellular Response To Oxygen Levels Response To Metal Ion Vascular Endothelial Cell Response To Laminar Fluid Shear Stress Mitochondrial ATP Synthesis Coupled Electron Transport Microtubule	PDZ Domain Binding Protein Modification Process Negative Regulation Of Synaptic Vesicle Clustering Phosphatidylinositol-3,4-bisphosphate 3-phosphatase Activity Negative Regulation Of Keratinocyte Migration Inositol-1,3,4,5-tetrakisphosphate 3-phosphatase Activity Response To Electrical Stimulus Inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase Activity Positive Regulation Of Free Ubiquitin Chain Polymerization Protein Modification By Small Protein Conjugation Protein Ubiquitination Response To Electrical Stimulus Involved In Regulation Of Muscle Adaptation Regulation Of G1/S Transition Of Mitotic Cell Cycle Central Nervous System Myelin Maintenance Rhythmic Synaptic Transmission Negative Regulation Of Phosphate Metabolic Process Negative Regulation Of Wound Healing, Spreading Of Epidermal Cells Regulation Of Cell Cycle G1/S Phase Transition Post-translational Protein Modification Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase Activity Myelin Sheath Adaxonal Region Phosphatidylinositol Phosphate Phosphatase Activity Skeletal Muscle Atrophy Negative Regulation Of Peptidyl-serine Phosphorylation Regulation Of Synaptic Vesicle Clustering Postsynaptic Density Assembly Response To Mitochondrial Depolarisation Diapedesis Skeletal Muscle Adaptation Striated Muscle Atrophy Neuron-neuron Synaptic Transmission Positive Regulation Of Intracellular Signal Transduction Negative Regulation Of Cell Size Anaphase-promoting Complex Binding Forebrain Morphogenesis Presynaptic Membrane Assembly Protein Polyubiquitination Muscle Atrophy Locomotor Rhythm Protein Metabolic Process Cellular Response To Electrical Stimulus Ubiquitin Ligase Activator Activity Spindle Assembly Involved In Female Meiosis Regulation Of Mitotic Cell Cycle Phase Transition Postsynaptic Specialization Assembly Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Maternal Behavior Presynaptic Membrane Organization Schmidt-Lanterman Incisure Negative Regulation Of Excitatory Postsynaptic Potential
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