ATP7A

Description		ATPase copper transporting alpha
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GO Annotations	Cellular Component	Cytoplasm Endosome Late Endosome Endoplasmic Reticulum Golgi Apparatus Trans-Golgi Network Cytosol Plasma Membrane Postsynaptic Density Membrane Basolateral Plasma Membrane Trans-Golgi Network Transport Vesicle Axon Dendrite Cytoplasmic Vesicle Membrane Phagocytic Vesicle Membrane Cytoplasmic Vesicle Early Endosome Membrane Trans-Golgi Network Membrane Melanosome Membrane Cell Projection Neuron Projection Neuronal Cell Body Synapse Perinuclear Region Of Cytoplasm Bounding Membrane Of Organelle
	Molecular Function	Nucleotide Binding Copper Ion Transmembrane Transporter Activity Copper Ion Binding Protein Binding ATP Binding P-type Ion Transporter Activity Superoxide Dismutase Copper Chaperone Activity ATP Hydrolysis Activity ATPase-coupled Monoatomic Cation Transmembrane Transporter Activity Copper-dependent Protein Binding P-type Divalent Copper Transporter Activity Metal Ion Binding P-type Monovalent Copper Transporter Activity Cuprous Ion Binding
	Biological Process	Blood Vessel Development Release Of Cytochrome C From Mitochondria Blood Vessel Remodeling Regulation Of Oxidative Phosphorylation L-tryptophan Metabolic Process Tyrosine Metabolic Process Catecholamine Metabolic Process Monoatomic Ion Transport Monoatomic Cation Transport Copper Ion Transport Intracellular Copper Ion Homeostasis Mitochondrion Organization Locomotory Behavior Glycoprotein Biosynthetic Process Detoxification Of Copper Ion Regulation Of Gene Expression Copper Ion Import Removal Of Superoxide Radicals Cerebellar Purkinje Cell Differentiation Pyramidal Neuron Development Central Nervous System Neuron Development Extracellular Matrix Organization Collagen Fibril Organization Hair Follicle Morphogenesis T-helper Cell Differentiation Epinephrine Metabolic Process Norepinephrine Metabolic Process Dopamine Metabolic Process Norepinephrine Biosynthetic Process Serotonin Metabolic Process Pigmentation Negative Regulation Of Neuron Apoptotic Process Skin Development Negative Regulation Of Catecholamine Metabolic Process ATP Metabolic Process Positive Regulation Of Melanin Biosynthetic Process Elastic Fiber Assembly Lung Alveolus Development Neuron Projection Morphogenesis Dendrite Morphogenesis Cartilage Development Neuron Apoptotic Process Establishment Of Localization In Cell Copper Ion Export Neuron Cellular Homeostasis
Pathways		Detoxification of Reactive Oxygen Species Ion influx/efflux at host-pathogen interface Ion transport by P-type ATPases
Drugs
Diseases		Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD) Menkes disease (MD); Menkes kinky hair syndrome Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome Distal hereditary motor neuropathies (dHMN)
GWAS		Height ( 31562340)
Interacting Genes		4 interacting genes: ATOX1 CP PDZD11 TMEM132D
Entrez ID		538
HPRD ID		02054
Ensembl ID		ENSG00000165240
Uniprot IDs		B4DRW0 Q04656 Q762B6
PDB IDs		1AW0 1KVI 1KVJ 1Q8L 1S6O 1S6U 1Y3J 1Y3K 1YJR 1YJT 1YJU 1YJV 2AW0 2G9O 2GA7 2K1R 2KIJ 2KMV 2KMX 3CJK 5T7L 7LU8
Enriched GO Terms of Interacting Partners?		Copper Ion Homeostasis Intracellular Copper Ion Homeostasis Copper Ion Binding Metallochaperone Activity Oxidoreductase Activity, Acting On Metal Ions, Oxygen As Acceptor Copper-dependent Protein Binding Copper Ion Export Ferroxidase Activity Oxidoreductase Activity, Acting On Metal Ions Copper Chaperone Activity Phospholipid-hydroperoxide Glutathione Peroxidase Activity Copper Ion Transmembrane Transport Cuprous Ion Binding Regulation Of Synaptic Assembly At Neuromuscular Junction Inorganic Ion Homeostasis Intracellular Monoatomic Ion Homeostasis Intracellular Monoatomic Cation Homeostasis Copper Ion Transport Pore Complex Monoatomic Ion Homeostasis Monoatomic Cation Homeostasis Pore Complex Assembly Glutathione Peroxidase Activity Intracellular Chemical Homeostasis Cellular Homeostasis Synaptic Vesicle Transport Neurotransmitter Secretion Chemical Homeostasis
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