BioPAX pathway converted from "Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria" in the Reactome database.Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuriaSLC6A18 encodes a neutral amino acid transporter B(0)AT3 which has preference for the amino acid glycine. It is abundantly expressed in the kidney, specifically the S2/3 segments of the kidney proximal tubule (Broer & Gether 2012, Schweikhard & Ziegler 2012). Iminoglycinuria (IG; MIM:242600) or hyperglycinuria (HG; MIM:138500) can arise from defects in SLC36A2, encoding a proton-coupled amino acid transporter 2 (PAT2), a high-affinity cotransporter of glycine and proline. Mutation in SLC6A18 may contribute to both IG and HG (Broer et al. 2008).Authored: Jassal, Bijay, 2014-08-22Reviewed: Broer, Stefan, 2015-08-04Edited: Jassal, Bijay, 2014-08-22LEFT-TO-RIGHTDefective SLC6A18 does not transport Gly from extracellular region to cytosolSLC6A18 encodes a neutral amino acid transporter B(0)AT3 which has preference for the amino acid glycine. It is abundantly expressed in the kidney, specifically the S2/3 segments of the kidney proximal tubule. Iminoglycinuria (IG; MIM:242600) or hyperglycinuria (HG; MIM:138500) can arise from defects in SLC36A2, encoding a proton-coupled amino acid transporter 2 (PAT2), a high-affinity cotransporter of glycine and proline. Mutations in SLC6A18 may contribute to both IG and HG. Although SLC6A18 could not be functionally expressed in heterologous systems, surface expression of mutants G79S and G496R in oocytes was abrogated, suggesting loss of functionality (Broer et al. 2008).Authored: Jassal, Bijay, 2014-12-23Reviewed: Broer, Stefan, 2015-08-04Edited: Jassal, Bijay, 2014-12-23GlyAminoacetic acidglycine zwitterionglycineReactome DB_ID: 266029extracellular regionGENE ONTOLOGYGO:0005576glycine zwitterion [ChEBI:57305]glycine zwitterionglycineDHMQDGOQFOQNFH-UHFFFAOYSA-N2-azaniumylacetateC2H5NO2InChI=1S/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5)[NH3+]CC([O-])=O75.06660ChEBICHEBI:57305Reactome Database ID Release 75266029Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=266029ReactomeR-ALL-2660294Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-ALL-266029.4Reactomehttp://www.reactome.orgCOMPOUNDC00037additional informationMIMI:0361ACTIVATIONConverted from EntitySet in ReactomeSLC6A18 mutantsReactome DB_ID: 5659737SLC6A18 G496RSodium- and chloride-dependent transporter XTRP2Reactome DB_ID: 5659726plasma membraneGENE ONTOLOGYGO:0005886UniProt:Q96N87 SLC6A18SLC6A18XTRP2FUNCTION Does not show neutral amino acid transporter activity.TISSUE SPECIFICITY Abundantly expressed in kidney, but not in intestine.POLYMORPHISM Genetic variation in SLC6A18 is not a significant predictor for elevated systolic or diastolic blood pressure and is not associated with hypertension in the Japanese population (PubMed:16340170).DISEASE Genetic variations in SLC6A18 might contribute to the disease phentotype in some individuals with iminoglycinuria or hyperglycinuria, that carry variants in SLC36A2, SLC6A19 or SLC6A20 (PubMed:19033659).SIMILARITY Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A18 subfamily.CAUTION The mouse ortholog protein is an active neutral amino acid transporter.Homo sapiensNCBI Taxonomy9606UniProtQ96N87496EQUALglycine removalMODMOD:016381EQUAL628EQUALReactome Database ID Release 755659726Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=5659726ReactomeR-HSA-56597261Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5659726.1SLC6A18 G79SSodium- and chloride-dependent transporter XTRP2Reactome DB_ID: 565975179EQUAL1EQUAL628EQUALReactome Database ID Release 755659751Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=5659751ReactomeR-HSA-56597511Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5659751.1Reactome Database ID Release 755659737Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=5659737ReactomeR-HSA-56597371Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5659737.1GENE ONTOLOGYGO:0015171gene ontology term for cellular functionMIMI:0355Same Catalyst ActivityReactome Database ID Release 759631921Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=9631921Reactome Database ID Release 755659755Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=5659755ReactomeR-HSA-56597552Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5659755.219033659Pubmed2008Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transportersBroer, StefanBailey, CGKowalczuk, SonjaNg, CynthiaVanslambrouck, Jessica MRodgers, HelenAuray-Blais, ChristianeCavanaugh, JABröer, AngelikaRasko, JEJ. Clin. Invest. 118:3881-92Reactome Database ID Release 755659729Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=5659729ReactomeR-HSA-56597291Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5659729.123177982Pubmed2012Amino acid secondary transporters: toward a common transport mechanismSchweikhard, Eva SZiegler, Christine MCurr Top Membr 70:1-28