SLCtables

SLC6A20

Protein name: N/D Aliases: system IMINO, XT3, Xtrp3 Substrates: proline, pipecolate, sarcosine Transport type: N/D Tissue and cellular expression: brain, kidney, small intestine, thymus, spleen, ovary, lung Subcellular expression: N/D Disease: iminoglycinuria Locus: 3p21.3 Sequence ID: NP_064593.1, NM_020208.3 NP_071800.1, NM_022405.3 Gene ID: 54716 Splice variants: N/D

S6A20_HUMAN (UniProt)

Gene names: SLC6A20, SIT1, XT3, XTRP3
Protein names and data: S6A20_HUMAN, Full=Sodium- and chloride-dependent transporter XTRP3, Full=Sodium/imino-acid transporter 1;Full=Solute carrier family 6 member 20;Full=Transporter rB21A homolog; Length: 592 a.a., Mass: 65914 Da,
fasta formatted sequence
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
Disease: (OMIM: 138500 242600 605616) 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; Defects in SLC6A20 are a cause of iminoglycinuria (IG) [MIM:242600]. It is 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=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
Cellular 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)
Tissue specificity: Kidney and small intestine. Expressed in the S3 segment of the proximal tubule

Database cross-references

UniProt: Q9NP91
NextBio: 57286
OMIM: 138500 242600 605616
Ensembl: ENST00000358525
GeneCard: GC03M045796
PharmGenUCSF: SLC6A20
Guide to Pharmacology: SLC6A20 (944)
Neutral amino acid transporter subfamily (944)
HGNC: HGNC:30927

Genetic variants

See also Ensembl:ENST00000358525

9 - 9 A -> G (in dbSNP:rs2271615). VAR_021862 2271615
199 - 199 T -> M (common variant that contributes to hyperglycinuria and iminoglycinuria in patients carrying variants in SLC36A2, SLC6A19 or SLC6A18; results in SLC6A20 inactivation due to a 8-fold decrease of Vmax; dbSNP:rs17279437). VAR_052068 17279437