Common Name:	ATR1
HGNC Symbol:	SLC3A1
HGNC Description:	solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
HGNC ID:	11025
Chromosome:	Chr.2(+): 44356103-44401448
Location:	2p16.3
OMIM:	104614
OMIM Phenotype:	Cystinuria
Accessions:	NM_000341
Nucleotide RefSeq:	NM_000341
Protein RefSeq:	NP_000332
Entrez:	6519
Isoforms:	1
Evidence:	Substrate In Vitro Evidence: SLC3A1 (rBAT) is called an "activator" of cationic and neutral amino acid transport: it is a subunit that forms a covalent heterodimer with SLC7A9 (b0,+ AT) and possibly other members of the SLC7 family. The SLC3 transporters are called the "heavy" subunits of the heteromeric amino acid transporters (HATs), and appear to be necessary for trafficking of the "light" subunits (which are probably the "catalytic" domains of the protein complexes); members of the SLC7 family (SLC7A5-11) make up the "light" subunits (Palacin M, Kanai Y. The ancillary proteins of HATs: SLC3 family of amino acid transporters. Pflugers Archives, May 6, 2003 [Epub ahead of print]; Verrey F, Closs EI, Wagner CA, Palacin M, Endou H, Kanai Y. CATs and HATs: the SLC7 family of amino acid transporters. Pflugers Archives Jun 11, 2003 [Epub ahead of print]). Uptake of L-arginine, L-cystine, and L-leucine was induced by injection of rBAT cRNA into X. laevis oocytes (Bertran J, Werner A, Chillaron J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacin M. Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem 268(20):14842-9, 1993). Substrate In Vivo Evidence: System b0,+ (i.e., the rBAT/b0,+AT heterodimer) is defective in cystinuria. This is the most common primary inherited aminoaciduria, characterized by hyperexcretion of dibasic amino acids and cystine in urine. The low solubility of cystine causes the formation of cystine calculi. Mutations in SLC3A1 cause cystinuria type I, whereas mutations in SLC7A9 cause cystinuria non-type I, and some cases of cystinuria type I (Palacin M, Kanai Y. The ancillary proteins of HATs: SLC3 family of amino acid transporters. Pflugers Archives, May 6, 2003 [Epub ahead of print]; Verrey F, Closs EI, Wagner CA, Palacin M, Endou H, Kanai Y. CATs and HATs: the SLC7 family of amino acid transporters. Pflugers Archives Jun 11, 2003 [Epub ahead of print]). At present, >60 cystinuria-specific mutations (>30 missense mutations) in SLC3A1 have been identified (reviewed in: Verrey F, Closs EI, Wagner CA, Palacin M, Endou H, Kanai Y. CATs and HATs: the SLC7 family of amino acid transporters. Pflugers Archives Jun 11, 2003 [Epub ahead of print]). Tissue Distribution Evidence: rBAT mRNA was found in kidney, small intestine, liver and pancreas by Northern blot (Bertran J, Werner A, Chillaron J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacin M. Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem 268(20):14842-9, 1993).
Tissues:	kidney, small intestine, liver, pancreas
Type:	protein coding
Sets:	V
PharmGKB ID:	PA35893
HPRD ID:	00090
Substrates:	L-arginine, L-cystine, L-leucine
Trivial Names:	D2H, ATR1, NBAT, RBAT, CSNU1, FLJ34681
Transcripts:	NM_000341 [Chr.2(+): 44356101-44401467]

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.