SLC7A7

Protein name: y+LAT1 Aliases: [4F2hc], system y+L Substrates: cationic amino acids (Na+ indep.), large neutral L-amino acids (Na+ dep.) Transport type: Exchanger (preferentially intracellular cationic amino acid against extracellular neutral amino acid / Na+) Tissue and cellular expression: small intestine, kidney, spleen, leucocytes, placenta, lung/ basolateral in epithelial cells Subcellular expression: N/D Disease: lysinuric protein intolerance (LPI) Locus: 14q11.2 Sequence ID: NP_001119577.1, NM_001126105.2 NP_001119578.1, NM_001126106.2 Gene ID: 9056 Splice variants: 3 splice variants

YLAT1_HUMAN (UniProt)

Gene names: SLC7A7
Protein names and data: YLAT1_HUMAN, Full=Y+L amino acid transporter 1, Full=Monocyte amino acid permease 2;Short=MOP-2;Full=Solute carrier family 7 member 7;Full=y(+)L-type amino acid transporter 1;Short=Y+LAT1;Short=y+LAT-1; Length: 511 a.a., Mass: 55991 Da,
fasta formatted sequence

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
Disease:
Cellular location: Basolateral cell membrane; Multi-pass membrane protein
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

Database cross-references

UniProt: Q9UM01
NextBio: 33935
OMIM: 222700 603593
Ensembl: ENST00000555702
GeneCard: GC14M022773
PharmGenUCSF: SLC7A7
Guide to Pharmacology: SLC7A7 (898)
SLC7 family (898)

HGNC: HGNC:11065

Genetic variants

See also Ensembl:ENST00000555702