Solute Carrier Family 7, Member 9 (SLC7A9)

CSNU3; Cationic Amino Acid Transporter,y+ System; b(0,+)-type amino acid transporter 1; Glycoprotein-associated amino acid transporter b0,+AT1

SPN	S388
HGNC	11067
MGI	1353656
PubMed	12371955
RGD	619905
UniProt	P82251
Wiki	SLC7A9

The SLC7A9 cDNA is polyadenylated and contains an open reading frame encoding a 487-amino acid protein. The protein, designated b(0,+)AT for b(0,+) amino acid transporter, belongs to a family of light subunits of amino acid transporters expressed in kidney, liver, small intestine, and placenta. Northern blot analysis revealed that the SLC7A9 gene was expressed as an approximately 1.9-kb transcript in these tissues. The tissue distribution of b(0,+)AT was consistent with that of a renal basic amino acid transporter (see SLC3A1, or rBAT) light subunit. As expected, b(0,+)AT brought rBAT to the plasma membrane in cotransfected COS cells. In contrast, transfection of rBAT alone resulted in the blockage of the expressed protein in the endoplasmic reticulum.

Reference

"Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT."
Nat. Genet. 23:52-57(1999) [PubMed] [Europe PMC] [Abstract]

"Luminal heterodimeric amino acid transporter defective in cystinuria."
Mol. Biol. Cell 10:4135-4147(1999) [PubMed] [Europe PMC] [Abstract]

"Human cystinuria-related transporter: localization and functional characterization."
Kidney Int. 59:1821-1833(2001) [PubMed] [Europe PMC] [Abstract]

"SLC7A9 mutations in all three cystinuria subtypes."
Kidney Int. 62:1550-1559(2002) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney."
Am. J. Physiol. 283:F540-F548(2002) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria."
Hum. Mol. Genet. 10:305-316(2001) [PubMed] [Europe PMC] [Abstract]

"Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes."
Kidney Int. 62:1136-1142(2002) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of SLC7A9 in cystinuria patients in Sweden."
Genet. Test. 7:13-20(2003) [PubMed] [Europe PMC] [Abstract]

"Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients."
Ann. Hum. Genet. 69:501-507(2005) [PubMed] [Europe PMC] [Abstract]

"New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype."
J. Med. Genet. 42:58-68(2005) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter."
Kidney Int. 69:1198-1206(2006) [PubMed] [Europe PMC] [Abstract]

"Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes."
Genet. Test. 12:351-355(2008) [PubMed] [Europe PMC] [Abstract]

"Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients."
Mol. Genet. Metab. 99:42-52(2010) [PubMed] [Europe PMC] [Abstract]