SLC17A5

Description		solute carrier family 17 member 5
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GO Annotations	Cellular Component	Lysosome Lysosomal Membrane Cytosol Plasma Membrane Membrane Basolateral Plasma Membrane Apical Plasma Membrane Synaptic Vesicle Membrane Cytoplasmic Vesicle Synapse Glutamatergic Synapse
	Molecular Function	Carbohydrate:proton Symporter Activity Sialic Acid Transmembrane Transporter Activity Symporter Activity Sialic Acid:proton Symporter Activity Transmembrane Transporter Activity D-glucuronate Transmembrane Transporter Activity
	Biological Process	Monoatomic Ion Transport Monoatomic Anion Transport Amino Acid Transport Response To Bacterium Sialic Acid Transport Carbohydrate Transmembrane Transport D-glucuronate Transmembrane Transport Carboxylic Acid Transport Transmembrane Transport Neurotransmitter Loading Into Synaptic Vesicle Proton Transmembrane Transport
Pathways		Hyaluronan degradation Sialic acid metabolism Organic anion transport by SLC5/17/25 transporters Defective SLC17A5 causes Salla disease (SD) and ISSD
Drugs
Diseases		Sialuria/ Sialic acid storage disease, including: Infantile sialic acid storage disease (ISSD); Sialuria, Finnish type / Salla disease (SD); Sialuria, French type
GWAS		Refractive error ( 32231278)
Novel Interacting Genes		1 novel interacting genes: APP
Interacting Genes		1 interacting genes: APP
Entrez ID		26503
HPRD ID		05058
Ensembl ID		ENSG00000119899
Uniprot IDs		Q9NRA2
PDB IDs		8DWI 8U3D 8U3E 8U3F 8U3G 8U3H 9AYB
Enriched GO Terms of Interacting Partners?		Acetylcholine Receptor Activator Activity Amyloid-beta Complex PTB Domain Binding Growth Cone Lamellipodium Collateral Sprouting In Absence Of Injury Regulation Of Protein Import Regulation Of Response To Calcium Ion Amylin Binding Endosome To Plasma Membrane Transport Vesicle Positive Regulation Of Toll Signaling Pathway Positive Regulation Of Endothelin Production Growth Cone Filopodium Lipoprotein Particle Phospholipase D-activating G Protein-coupled Receptor Signaling Pathway Positive Regulation Of Protein Import Microglia Development Positive Regulation Of G Protein-coupled Receptor Internalization Response To Norepinephrine Regulation Of Endoplasmic Reticulum Stress-induced Neuron Intrinsic Apoptotic Signaling Pathway Intermediate-density Lipoprotein Particle Axon Midline Choice Point Recognition Positive Regulation Of Amyloid Fibril Formation Cellular Response To Norepinephrine Stimulus Growth Factor Receptor Binding Main Axon Astrocyte Activation Involved In Immune Response Low-density Lipoprotein Particle Mediated Signaling Regulation Of Spontaneous Synaptic Transmission NMDA Selective Glutamate Receptor Signaling Pathway Regulation Of Synapse Structure Or Activity Regulation Of Toll Signaling Pathway Axon Choice Point Recognition Heparan Sulfate Binding Signaling Receptor Activator Activity Peptidase Activator Activity Cellular Response To Manganese Ion Negative Regulation Of Blood Circulation Regulation Of Superoxide Anion Generation Collateral Sprouting Heparan Sulfate Proteoglycan Binding Acetylcholine Receptor Binding Golgi-associated Vesicle Insulin Receptor Binding Apolipoprotein Binding Response To Lead Ion Regulation Of Calcium Ion Transmembrane Transport Via High Voltage-gated Calcium Channel High-density Lipoprotein Particle Very-low-density Lipoprotein Particle Neuron Projection Maintenance RAGE Receptor Binding
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