InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC7A7

Summary

InnateDB Protein

IDBP-235121.6

Last Modified

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

Gene Symbol

SLC7A7

Protein Name

solute carrier family 7 (amino acid transporter light chain, y+L system), member 7

Synonyms

LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000380666

InnateDB Gene

IDBG-2809 (SLC7A7)

Protein Structure

UniProt Annotation

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:0000269PubMed:14603368, ECO:0000269PubMed:15280038, ECO:0000269PubMed:17329401, ECO:0000269PubMed:9829974, ECO:0000269PubMed:9878049}.

Subcellular Localization

Basolateral cell membrane {ECO:0000269PubMed:15756301}; Multi-pass membrane protein {ECO:0000269PubMed:15756301}.

Disease Associations

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:0000269PubMed:10080182, ECO:0000269PubMed:10631139, ECO:0000269PubMed:10655553, ECO:0000269PubMed:12402335, ECO:0000269PubMed:15776427, ECO:0000269PubMed:17764084, ECO:0000269PubMed:9829974}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:10080183, ECO:0000269PubMed:11078698, ECO:0000269PubMed:11742806, ECO:0000269PubMed:15280038, ECO:0000269PubMed:17197568, ECO:0000269PubMed:17329401, ECO:0000269PubMed:9829974}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015171	amino acid transmembrane transporter activity

Biological Process

GO:0003333	amino acid transmembrane transport
GO:0006461	protein complex assembly
GO:0006520	cellular amino acid metabolic process
GO:0006810	transport
GO:0006811	ion transport
GO:0006865	amino acid transport
GO:0007596	blood coagulation
GO:0050900	leukocyte migration
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane