SLC6A20

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq]

Full Name

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

Function

Mediates the Na+- and Cl--dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids (PubMed:15632147, PubMed:19033659, PubMed:33428810).
Also transports glycine, regulates proline and glycine homeostasis in the brain playing a role in the modulation of NMDAR currents (PubMed:33428810).

Biological Process

Biological Process amino acid import across plasma membraneBy SimilarityISS:ARUK-UCL
Biological Process amino acid transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process amino-acid betaine transportISS:ARUK-UCL
Biological Process glycine import across plasma membraneManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process glycine transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process L-isoleucine import across plasma membraneBy SimilarityISS:ARUK-UCL
Biological Process L-proline import across plasma membraneManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process proline import across plasma membraneManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process proline transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process transport across blood-brain barrier1 PublicationNAS:ARUK-UCL

Cellular Location

Apical cell membrane
Located in the apical brush border membrane of kidney proximal tubule cells and in the apical membrane of enterocytes lining the intestinal villi.

Involvement in disease

Hyperglycinuria (HG):
A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.
Iminoglycinuria (IG):
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.