SLC22A5

Description		solute carrier family 22 member 5
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Endoplasmic Reticulum Cytosol Plasma Membrane Basal Plasma Membrane Membrane Apical Plasma Membrane Brush Border Membrane Extracellular Exosome
	Molecular Function	Nucleotide Binding Protein Binding ATP Binding Amino-acid Betaine Transmembrane Transporter Activity Carnitine Transmembrane Transporter Activity Symporter Activity Quaternary Ammonium Group Transmembrane Transporter Activity Transmembrane Transporter Activity PDZ Domain Binding Xenobiotic Transmembrane Transporter Activity (R)-carnitine Transmembrane Transporter Activity
	Biological Process	Monoatomic Ion Transport Sodium Ion Transport Response To Symbiotic Bacterium Quaternary Ammonium Group Transport Carnitine Transport Response To Type II Interferon Response To Tumor Necrosis Factor Xenobiotic Transport Transmembrane Transport Positive Regulation Of Intestinal Epithelial Structure Maintenance Sodium-dependent Organic Cation Transport Transport Across Blood-brain Barrier (R)-carnitine Transport (R)-carnitine Transmembrane Transport Carnitine Transmembrane Transport Xenobiotic Detoxification By Transmembrane Export Across The Plasma Membrane
Pathways		Carnitine shuttle SLC-mediated transport of organic cations Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
Drugs		Levocarnitine
Diseases		Disorders of fatty-acid oxidation, including: Medium-chain (MC) acyl-CoA dehydrogenase (AD) deficiency (MCADD); Short-chain AD deficiency (SCADD) ; Short-branched-chain AD deficiency (SBCADD) ; Very long-chain AD deficiency (VLCADD) ; Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD) ; Trifunctional protein deficiency (TFP); Carnitine palmitoyltransferase deficiency (CPT); Carnitine-acylcarnitine translocase deficiency (CACT); Systemic primary carnitine deficiency (CDSP) Crohn's disease
GWAS		Aspartate aminotransferase levels ( 33547301) Asthma ( 31959851 31619474 29273806 20860503) Asthma (adult onset) ( 31036433) Asthma (childhood onset) ( 31036433) Asthma or allergic disease (pleiotropy) ( 29785011) Brain morphology (MOSTest) ( 32665545) Carotid plaque maximum area ( 32469969) Cortical surface area (MOSTest) ( 32665545) Crohn's disease ( 21102463 28067908) Diastolic blood pressure ( 30578418) Fibrinogen ( 20031577) Height ( 20881960) High light scatter reticulocyte count ( 32888494) High light scatter reticulocyte percentage of red cells ( 32888494) Immature fraction of reticulocytes ( 32888494) Inflammatory bowel disease ( 23128233 28067908) Intracranial aneurysm ( 33199917) Low density lipoprotein cholesterol levels ( 29083408 32154731) Maximum stenosis ( 32469969) Mean area of carotid plaque ( 32469969) Mean degree of stenosis ( 32469969) Mean platelet volume ( 32888494) Monocyte count ( 32888494) Mosquito bite size ( 28199695) Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) ( 24823311) Serum metabolite levels ( 23093944 33031748) Subcortical volume (MOSTest) ( 32665545) Sum of carotid plaque area ( 32469969) Ulcerative colitis ( 28067908) White blood cell count ( 32888494)
Interacting Genes		11 interacting genes: KRT27 KRT34 KRTAP6-3 MTUS2 NBPF19 NHERF1 NHERF2 NHERF4 NOTCH2NLA PDZK1 SH3RF1
Entrez ID		6584
HPRD ID		04539
Ensembl ID		ENSG00000197375
Uniprot IDs		O76082
PDB IDs
Enriched GO Terms of Interacting Partners?		Protein-membrane Adaptor Activity Type 2 Metabotropic Glutamate Receptor Binding Type 3 Metabotropic Glutamate Receptor Binding Protein Localization To Plasma Membrane Protein Localization To Cell Periphery Protein Localization To Membrane Apical Plasma Membrane Signaling Receptor Binding Intermediate Filament Microvillus Membrane Localization Within Membrane Structural Constituent Of Skin Epidermis Brush Border Membrane Brush Border Phosphatase Binding Renal Phosphate Ion Absorption Guanylate Cyclase Inhibitor Activity Intermediate Filament Organization Morphogenesis Of An Epithelium PDZ Domain Binding Regulation Of Renal Phosphate Excretion Dopamine Receptor Binding Apical Part Of Cell Intermediate Filament Cytoskeleton Organization Keratin Filament Intermediate Filament-based Process Epithelial Cell Differentiation Tissue Morphogenesis Beta-catenin Binding Scavenger Receptor Binding Growth Factor Receptor Binding Carnitine Transmembrane Transport Carnitine Transport Maintenance Of Epithelial Cell Apical/basal Polarity Bile Acid Secretion Microvillus Assembly Channel Activator Activity Gamma-aminobutyric Acid Transmembrane Transporter Activity Beta-2 Adrenergic Receptor Binding Chloride Channel Regulator Activity Gamma-aminobutyric Acid Import Negative Regulation Of CGMP-mediated Signaling Microvillus Organization Establishment Of Golgi Localization Phospholipase C-activating Dopamine Receptor Signaling Pathway Regulation Of CD8-positive, Alpha-beta T Cell Proliferation Structural Molecule Activity Intracellular Phosphate Ion Homeostasis
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