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Gene, Transcriptome, Protein, Pathway or Disease. 

Protein basic information

LiverAtlas Protein ID

HuLPr45175

Uniprot ID

S6A20_HUMAN

Uniprot Acc

Q9NP91;A1A4F2;O75590;Q8TF10;Q9NPQ2;Q9NQ77;

Protein name

Sodium- and chloride-dependent transporter XTRP3

Comment

FUNCTION:Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N- methylated amino acids. Involved in the transport of glycine.||SUBCELLULAR LOCATION:Apical cell membrane; Multi-pass membrane protein (By similarity). Note=Located in the apical brush border membrane of kidney proximal tubule cells (By similarity).||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=XT3; IsoId=Q9NP91-1; Sequence=Displayed; Name=2; Synonyms=XT3a; IsoId=Q9NP91-2; Sequence=VSP 050002;||TISSUE SPECIFICITY:Kidney and small intestine. Expressed in the S3 segment of the proximal tubule.||DISEASE:Defects in SLC6A20 are a cause of hyperglycinuria (HG) [MIM:138500]. It is a condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.||DISEASE:Defects in SLC6A20 are a cause of iminoglycinuria (IG) [MIM:242600]. It is a disorder of renal tubular r

Subcellular localization

Apical cell membrane;Multi-pass membrane protein(By similarity).

Gene name

solute carrier family 6 (proline IMINO transporter), member 20

Protein sequence

MEKARPLWANSLQFVFACISYAVGLGNVWRFPYLCQMYGG GSFLVPYIIMLIVEGMPLLYLELAVGQRMRQGSIGAWRT ISPYLSGVGVASVVVSFFLSMYYNVINAWAFWYLFHSFQ DPLPWSVCPLNGNHTGYDEECEKASSTQYFWYRKTLNIS PSLQENGGVQWEPALCLLLAWLVVYLCILRGTESTGKVV YFTASLPYCVLIIYLIRGLTLHGATNGLMYMFTPKIEQL ANPKAWINAATQIFFSLGLGFGSLIAFASYNEPSNNCQK HAIIVSLINSFTSIFASIVTFSIYGFKATFNYENCLKKV SLLLTNTFDLEDGFLTASNLEQVKGYLASAYPSKYSEMF PQIKNCSLESELDTAVQGTGLAFIVYTEAIKNMEVSQLW SVLYFFMLLMLGIGSMLGNTAAILTPLTDSKIISSHLPK EAISGLVCLVNCAIGMVFTMEAGNYWFDIFNDYAATLSL LLIVLVETIAVCYVYGLRRFESDLKAMTGRAVSWYWKVM WAGVSPLLIVSLFVFYLSDYILTGTLKYQAWDASQGQLV TKDYPAYALAVIGLLVASSTMCIPLAALGTFVQRRLKRGDADPVA

Database cross reference

RefSeq Protein accession:NP_064593
RefSeq Protein gi:11181770

Liver relevance

HLPP validation

Yes/No

Yes

Project name

French Liver;

Ontology annotation

GO-C

GO:0016324;C:apical plasma membrane;ISS:UniProtKB. GO:0005887;C:integral to plasma membrane;IEA:InterPro.

GO-F

GO:0015171;F:amino acid transmembrane transporter activity;IDA:UniProtKB. GO:0005328;F:neurotransmitter:sodium symporter activity;IEA:InterPro.

GO-P

GO:0034641;P:cellular nitrogen compound metabolic process;TAS:Reactome. GO:0015816;P:glycine transport;IMP:UniProtKB. GO:0015824;P:proline transport;IMP:UniProtKB.

Pathway

Pathway name

Iminoglycinuria