amino acid transporter-1; ATR1; solute carrier family 3 member 1; SLC3A1; neutral & basic amino acid transport protein rBAT; B(0,+)-type amino acid transport protein; NBAT; D2H; cystine-dibasic & neutral amino acid transporter

Function

• role in the high-affinity, Na+ independent transport of cystine & neutral & dibasic amino acids (system B(0,+)-like activity)
• may function as an activator of SLC7A9
• role in high-affinity reabsorption of cystine in the kidney tubule (putative)
• disulfide-linked heterodimer with the amino acid transport protein SLC7A9

Compartment

membrane

Expression

• predominantly expressed in the kidney, small intestine & pancreas
• weakly expressed in liver

Pathology

• defects in SLC3A1 are a cause of:
  • cystinuria type 1
  • hypotonia-cystinuria syndrome

More general terms

• amino acid transport protein
• glycoprotein
• solute carrier family 3 (SLC3, SLC3A)

Additional terms

• cystinuria

Database

• OMIM: https://mirror.omim.org/entry/104614
• OMIM: https://mirror.omim.org/entry/220100
• UniProt: http://www.uniprot.org/uniprot/Q07837.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6519