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MGP005320

UniProt Annotations

Entry Information
Gene Namesolute carrier family 6 (proline IMINO transporter), member 20
Protein EntryS6A20_HUMAN
UniProt IDQ9NP91
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=XT3; IsoId=Q9NP91-1; Sequence=Displayed; Name=2; Synonyms=XT3a; IsoId=Q9NP91-2; Sequence=VSP_050002;
DiseaseHyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269|PubMed:19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseIminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. Note=The disease is caused by mutations affecting the gene represented in this entry. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.
FunctionMediates 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. {ECO:0000269|PubMed:15632147, ECO:0000269|PubMed:19033659}.
Sequence CautionSequence=AAL75944.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily. {ECO:0000305}.
Subcellular LocationApical cell membrane {ECO:0000250}; Multi- pass membrane protein {ECO:0000250}. Note=Located in the apical brush border membrane of kidney proximal tubule cells. {ECO:0000250}.
Tissue SpecificityKidney and small intestine. Expressed in the S3 segment of the proximal tubule. {ECO:0000269|PubMed:19033659, ECO:0000269|PubMed:9932288}.
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