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solute carrier family 7 member 7; Y+L amino acid transporter 1; monocyte amino acid permease 2; MOP-2; y(+)L-type amino acid transporter 1; Y+LAT1; y+LAT-1 (SLC7A7)
Function:
- role in the Na+-independent uptake of dibasic amino acids & Na+-dependent uptake of some neutral amino acids
- requires co-expression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine & glutamine
- plays a role in nitric oxide synthesis in human umbilical vein endothelial cells via transport of L-arginine
- role in transport of L- arginine in monocytes
- arginine transport is inhibited by protein kinase C (PKC) & treatment with phorbol-12-myristate-13-acetate (PMA)
- disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc
Kinetic parameters:
- KM=31.7 uM for L-leucine (in the presence of 0.1 M NaCl)
- KM=16.2 uM for L-leucine (in the presence of 0.1 M LiCl)
Structure:
- belongs to the amino acid-polyamine-organocation (APC) superfamily, L-type amino acid transporter (LAT) (TC 2.A.3.8) family
Compartment:
- basolateral cell membrane
Expression:
- highest expression in kidney & peripheral blood leukocytes
- weaker expression is observed in lung, heart, placenta, spleen, testis & small intestine
- expressed in
a) normal fibroblasts & those from patients with lysinuric protein intolerance
b) umbilical vein endothelial cells
c) retinal pigment epithelial cells
d) monocytes
e) various carcinoma cell lines
- highest expression in a colon-carcinoma cell line
- expression is stimulated & enhanced by IFNG/IFN-gamma
Pathology:
- defects in SLC7A7 are the cause of lysinuric protein intolerance
Related
lysinuric protein intolerance
General
glycoprotein
solute carrier family 7 (SLC7, SLC7A)
transmembrane 12e protein
Properties
SIZE: entity length = 511 aa
MW = 56 kD
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {37-57}
transmembrane domain {69-89}
transmembrane domain {107-127}
transmembrane domain {133-153}
transmembrane domain {160-180}
transmembrane domain {186-206}
transmembrane domain {222-242}
transmembrane domain {259-279}
transmembrane domain {304-324}
N-glycosylation site {N325}
transmembrane domain {383-403}
transmembrane domain {416-436}
transmembrane domain {441-461}
Database Correlations
OMIM correlations
MORBIDMAP 603593
UniProt Q9UM01
Pfam PF00324
Entrez Gene 9056
Kegg hsa:9056
References
- UniProt :accession Q9UM01
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SLC7A7