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MGP003784

UniProt Annotations

Entry Information

Gene Name	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
Protein Entry	YLAT1_HUMAN
UniProt ID	Q9UM01
Species	Human

Comments

Comment type	Description
Biophysicochemical Properties	Kinetic parameters: KM=31.7 uM for L-leucine (in the presence of 0.1 M NaCl) {ECO:0000269\|PubMed:9878049}; KM=16.2 uM for L-leucine (in the presence of 0.1 M LiCl) {ECO:0000269\|PubMed:9878049};
Disease	Lysinuric protein intolerance (LPI) [MIM:222700]: A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life- threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. {ECO:0000269\|PubMed:10080182, ECO:0000269\|PubMed:10631139, ECO:0000269\|PubMed:10655553, ECO:0000269\|PubMed:12402335, ECO:0000269\|PubMed:15776427, ECO:0000269\|PubMed:17764084, ECO:0000269\|PubMed:9829974}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Arginine transport is inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA).
Function	Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L- arginine in monocytes. {ECO:0000269\|PubMed:14603368, ECO:0000269\|PubMed:15280038, ECO:0000269\|PubMed:17329401, ECO:0000269\|PubMed:9829974, ECO:0000269\|PubMed:9878049}.
Induction	Expression is stimulated and enhanced by IFNG/IFN- gamma. {ECO:0000269\|PubMed:15280038}.
Sequence Caution	Sequence=BAA95120.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAD62619.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. {ECO:0000305}.
Subcellular Location	Basolateral cell membrane {ECO:0000269\|PubMed:15756301}; Multi-pass membrane protein {ECO:0000269\|PubMed:15756301}.
Subunit	Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. {ECO:0000269\|PubMed:9829974, ECO:0000269\|PubMed:9878049}.
Tissue Specificity	Highest expression in kidney and peripheral blood leukocytes. Weaker expression is observed in lung, heart, placenta, spleen, testis and small intestine. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, retinal pigment epithelial cells, and various carcinoma cell lines, with highest expression in a colon-carcinoma cell line. {ECO:0000269\|PubMed:10080183, ECO:0000269\|PubMed:11078698, ECO:0000269\|PubMed:11742806, ECO:0000269\|PubMed:15280038, ECO:0000269\|PubMed:17197568, ECO:0000269\|PubMed:17329401, ECO:0000269\|PubMed:9829974}.