InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC6A20

Summary

InnateDB Protein

IDBP-29686.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC6A20

Protein Name

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

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000346298

InnateDB Gene

IDBG-29682 (SLC6A20)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:15632147, ECO:0000269PubMed:19033659}.

Subcellular Localization

Apical 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}.

Disease Associations

Hyperglycinuria (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:0000269PubMed:19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry.Iminoglycinuria (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.

Tissue Specificity

Kidney and small intestine. Expressed in the S3 segment of the proximal tubule. {ECO:0000269PubMed:19033659, ECO:0000269PubMed:9932288}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005328	neurotransmitter:sodium symporter activity
GO:0015171	amino acid transmembrane transporter activity

Biological Process

GO:0006811	ion transport
GO:0006836	neurotransmitter transport
GO:0006865	amino acid transport
GO:0015816	glycine transport
GO:0015824	proline transport
GO:0055085	transmembrane transport