Entrez Summary: This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014].
UniProt Summary: May be involved in arginine transport. {ECO:0000269|PubMed:22787143, ECO:0000269|PubMed:24670872}.
Pfam DomainsGO Terms
Pfam Domains
AA permease
GO Terms
transmembrane transporter activity
negative regulation of phosphatase activity
negative regulation of dephosphorylation
amino acid transport
regulation of phosphatase activity
regulation of dephosphorylation
organic acid transport
carboxylic acid transport
lysosomal membrane
negative regulation of hydrolase activity
organic anion transport
negative regulation of phosphate metabolic process
negative regulation of phosphorus metabolic process
anion transport
negative regulation of catalytic activity
negative regulation of molecular function
transmembrane transport
regulation of hydrolase activity
ion transport
regulation of phosphate metabolic process
regulation of phosphorus metabolic process
nitrogen compound transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
No hits were found.
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739