PC and MYO7A

		PC	MYO7A
Description		pyruvate carboxylase	myosin VIIA
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GO Annotations	Cellular Component	Cytoplasm Mitochondrion Mitochondrial Matrix Cytosol	Photoreceptor Outer Segment Photoreceptor Inner Segment Cytoplasm Lysosomal Membrane Cytosol Cytoskeleton Microvillus Cell Cortex Actin Cytoskeleton Membrane Apical Plasma Membrane Myosin Complex Myosin VII Complex Photoreceptor Connecting Cilium Stereocilium Melanosome Synapse Photoreceptor Cell Cilium Stereocilium Base Upper Tip-link Density
	Molecular Function	Nucleotide Binding Catalytic Activity Pyruvate Carboxylase Activity Protein Binding ATP Binding Biotin Binding Ligase Activity Identical Protein Binding Metal Ion Binding	Microfilament Motor Activity Nucleotide Binding Cytoskeletal Motor Activity Actin Binding Protein Binding Calmodulin Binding ATP Binding Protein Domain Specific Binding Spectrin Binding Identical Protein Binding ADP Binding Protein-containing Complex Binding Actin Filament Binding
	Biological Process	Gluconeogenesis Lipid Metabolic Process NADP+ Metabolic Process Negative Regulation Of Gene Expression Viral RNA Genome Packaging Viral Release From Host Cell NAD+ Metabolic Process Small Molecule Metabolic Process Host-mediated Activation Of Viral Process	Phagolysosome Assembly Intracellular Protein Transport Endocytosis Phagocytosis Actin Filament Organization Lysosome Organization Sensory Organ Development Sensory Perception Visual Perception Sensory Perception Of Sound Intracellular Protein Localization Cell Projection Organization Actin Filament-based Movement Eye Photoreceptor Cell Development Inner Ear Morphogenesis Mechanoreceptor Differentiation Inner Ear Auditory Receptor Cell Differentiation Neuron Development Inner Ear Development Sensory Perception Of Light Stimulus Equilibrioception Pigment Granule Localization Pigment Granule Transport Auditory Receptor Cell Stereocilium Organization Inner Ear Receptor Cell Differentiation Inner Ear Receptor Cell Stereocilium Organization Cochlea Development Sensory Organ Morphogenesis
Pathways		Biotin transport and metabolism Defective HLCS causes multiple carboxylase deficiency Gluconeogenesis Pyruvate metabolism	The canonical retinoid cycle in rods (twilight vision) Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea
Drugs		Pyruvic acid Biotin 5-(hexahydro-2-oxo-1H-thieno[3,4-D]imidazol-6-yl)pentanal
Diseases		Pyruvate carboxylase deficiency	Deafness, autosomal recessive Usher syndrome (US) Deafness, autosomal dominant
GWAS		A body shape index ( 34021172) Bipolar disorder ( 21926972 31043756 34002096) Familial squamous cell lung carcinoma ( 29924316) Hip circumference adjusted for BMI ( 34021172) HIV-1 susceptibility ( 22174851) Urate levels ( 31578528) Waist circumference adjusted for body mass index ( 34021172) Waist-hip index ( 34021172)	Lewy body disease ( 25188341) Post bronchodilator FEV1/FVC ratio ( 26634245) Tourette syndrome ( 30818990)
Interacting Genes		10 interacting genes: FNDC3B GOT1 GOT2 LCOR MDH2 MYO7A PCBP2 RNF10 SERPINH1 USP7	14 interacting genes: ACTA1 CALM1 CDH23 KEAP1 KHDRBS1 LINC00839 MAP2 MAP3K11 MYRIP PC PRKAR1A USH1C VEZT WHRN
Entrez ID		5091	4647
HPRD ID		02032	02043
Ensembl ID		ENSG00000173599	ENSG00000137474
Uniprot IDs		P11498	Q13402
PDB IDs		3BG3 3BG9 7WTA 7WTB 7WTC 7WTD 7WTE 8HWL 8J7O 8XL9	5MV9
Enriched GO Terms of Interacting Partners?		Malate-aspartate Shuttle L-glutamate Catabolic Process To Aspartate L-aspartate:2-oxoglutarate Aminotransferase Activity Aspartate Biosynthetic Process L-aspartate Catabolic Process NAD+ Metabolic Process Aspartate Metabolic Process Oxaloacetate Metabolic Process L-glutamate Catabolic Process Dicarboxylic Acid Metabolic Process Nicotinamide Nucleotide Metabolic Process 2-oxoglutarate Metabolic Process Dicarboxylic Acid Catabolic Process Transaminase Activity Glutamate Metabolic Process Aspartate Family Amino Acid Metabolic Process Pyridoxal Phosphate Binding Gluconeogenesis Hexose Biosynthetic Process Glutamine Family Amino Acid Metabolic Process L-glutamate Biosynthetic Process L-malate Dehydrogenase (NADP+) Activity Upper Tip-link Density Myosin VII Complex Amino Acid Biosynthetic Process Catalytic Activity RNA Binding Purine Nucleotide Metabolic Process Proteinogenic Amino Acid Catabolic Process L-amino Acid Catabolic Process L-cysteine Transaminase Activity Phosphatidylserine Decarboxylase Activity Nucleotide Metabolic Process Amino Acid Catabolic Process Response To Transition Metal Nanoparticle L-malate Dehydrogenase (NAD+) Activity Malate Dehydrogenase Activity Symbiont-mediated Disruption Of Host Cell PML Body Small Molecule Biosynthetic Process Carbohydrate Biosynthetic Process Glucose Metabolic Process Purine-containing Compound Metabolic Process Trans-4-hydroxy-L-proline Catabolic Process Kynurenine-oxoglutarate Transaminase Activity Phagolysosome Assembly Stereocilium Base Chondrocyte Development Involved In Endochondral Bone Morphogenesis Glycerol Biosynthetic Process Equilibrioception Postsynapse To Nucleus Signaling Pathway	Stereocilia Ankle Link Complex Stereocilium Tip Inner Ear Receptor Cell Differentiation Myosin Binding Mechanoreceptor Differentiation Inner Ear Receptor Cell Stereocilium Organization Stereocilium Equilibrioception Cell Cycle Phase Transition G2/M Transition Of Mitotic Cell Cycle Cell Cycle G2/M Phase Transition Photoreceptor Inner Segment Actin Filament Auditory Receptor Cell Stereocilium Organization Inner Ear Auditory Receptor Cell Differentiation Hair Cell Differentiation Mitotic Cell Cycle Phase Transition Sensory Perception Of Mechanical Stimulus Sensory Perception Of Sound Cytosol Neuron Projection Development Photoreceptor Cell Maintenance Sensory Perception Of Light Stimulus Synapse Apical Distal Dendrite Pyruvate Carboxylase Activity Grb2-Sos Complex Sarcomere Negative Regulation Of High Voltage-gated Calcium Channel Activity Centrosome Negative Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Cilium Dendritic Filopodium Positive Regulation Of Anterograde Synaptic Vesicle Transport Distal Dendrite Positive Regulation Of Anterograde Dense Core Granule Transport Primary Dendrite Viral RNA Genome Packaging Protein Localization To Microvillus Inner Ear Morphogenesis Photoreceptor Outer Segment Cerebellar Purkinje Cell Layer Formation Paranodal Junction Maintenance Cochlear Hair Cell Ribbon Synapse Cell Cycle G1/S Phase Transition Cell Projection Proximal Neuron Projection Dendritic Branch Positive Regulation Of Insulin Secretion Stereocilia Ankle Link
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