SLC6A20

Description		solute carrier family 6 member 20
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GO Annotations	Cellular Component	Plasma Membrane Membrane Apical Plasma Membrane
	Molecular Function	Proline:sodium Symporter Activity Protein Binding Amino Acid Transmembrane Transporter Activity Neutral L-amino Acid Transmembrane Transporter Activity L-isoleucine Transmembrane Transporter Activity L-proline Transmembrane Transporter Activity Amino-acid Betaine Transmembrane Transporter Activity Symporter Activity Solute:sodium Symporter Activity Transmembrane Transporter Activity
	Biological Process	Amino Acid Transport Glycine Transport Proline Transport Amino-acid Betaine Transport Sodium Ion Transmembrane Transport Amino Acid Import Across Plasma Membrane Transport Across Blood-brain Barrier Glycine Import Across Plasma Membrane L-isoleucine Import Across Plasma Membrane L-proline Import Across Plasma Membrane Proline Import Across Plasma Membrane
Pathways		Amino acid transport across the plasma membrane SLC-mediated transport of neurotransmitters Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
Drugs
Diseases		Iminoglycinuria
GWAS		Acne (severe) ( 24927181) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) COVID-19 ( 33949668) Hirschsprung disease ( 25310821) Immune reponse to smallpox (secreted TNF-alpha) ( 22610502) Macular telangiectasia type 2 ( 33654266) Macular thickness ( 30535121) Severe COVID-19 infection with respiratory failure (analysis I) ( 32558485) Severe COVID-19 infection with respiratory failure (analysis II) ( 32558485) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Urinary metabolites ( 21572414 26352407)
Novel Interacting Genes		14 novel interacting genes: ADAMTSL4 CYSRT1 KRTAP1-1 KRTAP10-1 KRTAP10-3 KRTAP10-5 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP5-9 MESD NBPF19 NOTCH2NLA SNCA
Interacting Genes		14 interacting genes: ADAMTSL4 CYSRT1 KRTAP1-1 KRTAP10-1 KRTAP10-3 KRTAP10-5 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP5-9 MESD NBPF19 NOTCH2NLA SNCA
Entrez ID		54716
HPRD ID		16128
Ensembl ID		ENSG00000163817
Uniprot IDs		A0A8V8TQV4 B7ZLW4 Q9NP91
PDB IDs		7Y75 7Y76 8I91 8P2W 8P2X 8P2Y 8P2Z 8P30 8P31 8WM3
Enriched GO Terms of Interacting Partners?		Intermediate Filament Keratin Filament Identical Protein Binding Response To Desipramine Negative Regulation Of Norepinephrine Uptake Phospholipase D Inhibitor Activity Positive Regulation Of SNARE Complex Assembly Negative Regulation Of Dopamine Uptake Involved In Synaptic Transmission Pigment Cell Development
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