Neutral and basic amino acid transport protein rBAT explained

Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the SLC3A1 gene.^{[1] [2] [3]}

Mutations in the SLC3A1 gene are associated with cystinuria.

See also

• Heterodimeric amino acid transporter
• Solute carrier family

Further reading

• Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M . Mutations in the SLC3A1 transporter gene in cystinuria . Am. J. Hum. Genet. . 56 . 6 . 1297–303 . 1995 . 7539209 . 1801089 .
• Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X . Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria . Proc. Natl. Acad. Sci. U.S.A. . 92 . 21 . 9667–9671 . 1995 . 7568194 . 40863 . 10.1073/pnas.92.21.9667 . 1995PNAS...92.9667C . free .
• Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A . Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity . Am. J. Hum. Genet. . 57 . 4 . 781–8 . 1995 . 7573036 . 1801520 .
• Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H, Taketani Y, Takada K, Morita K, Kanayama H . Mutations of the basic amino acid transporter gene associated with cystinuria . Biochem. J. . 310 . 3 . 951–5 . 1995 . 7575432 . 1135988 . 10.1042/bj3100951.
• Bertran J, Werner A, Chillarón J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacín 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 . 10.1016/S0021-9258(18)82410-3 . 7686906 . free . 2445/181367 . free .
• Busch AE, Herzer T, Waldegger S, Schmidt F, Palacin M, Biber J, Markovich D, Murer H, Lang F . Opposite directed currents induced by the transport of dibasic and neutral amino acids in Xenopus oocytes expressing the protein rBAT . J. Biol. Chem. . 269 . 41 . 25581–6 . 1994 . 7929260 . Murer . H . Lang . 6 . F . Markovich . D . 10.1016/S0021-9258(18)47289-4 . free .
• Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V . Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization . Hum. Genet. . 95 . 6 . 633–6 . 1995 . 7789946 . 10.1007/bf00209478 . 60440459 .
• Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F . Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine . Nat. Genet. . 6 . 4 . 420–425 . 1994 . 8054986 . 10.1038/ng0494-420 . 6627286 .
• Ahmed A, Peter GJ, Taylor PM, Harper AA, Rennie MJ . Sodium-independent Currents of Opposite Polarity Evoked by Neutral and Cationic Amino Acids in Neutral and Basic Amino Acid Transporter cRNA-injected Oocytes . J. Biol. Chem. . 270 . 21 . 8482–8486 . 1995 . 7721744 . 10.1074/jbc.270.15.8482 . free .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–174 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Miyamoto K, Segawa H, Tatsumi S, Katai K, Yamamoto H, Taketani Y, Haga H, Morita K, Takeda E . Effects of truncation of the COOH-terminal region of a Na+-independent neutral and basic amino acid transporter on amino acid transport in Xenopus oocytes . J. Biol. Chem. . 271 . 28 . 16758–16763 . 1996 . 8663184 . 10.1074/jbc.271.28.16758 . free .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–156 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Ahmed A, Yao PC, Brant AM, Peter GJ, Harper AA . Electrogenic L-Histidine Transport in Neutral and Basic Amino Acid Transporter (NBAT)-expressing Xenopus laevis Oocytes . J. Biol. Chem. . 272 . 1 . 125–130 . 1997 . 8995237 . 10.1074/jbc.272.1.125 . free .
• Rossier G, Meier C, Bauch C, Summa V, Sordat B, Verrey F, Kühn LC . LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine . J. Biol. Chem. . 274 . 49 . 34948–34954 . 2000 . 10574970 . 10.1074/jbc.274.49.34948 . free .
• Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kühn LC, Verrey F . Luminal heterodimeric amino acid transporter defective in cystinuria . Mol. Biol. Cell . 10 . 12 . 4135–47 . 2000 . 10588648 . 25748 . 10.1091/mbc.10.12.4135 .
• Rajan DP, Huang W, Kekuda R, George RL, Wang J, Conway SJ, Devoe LD, Leibach FH, Prasad PD, Ganapathy V . Differential influence of the 4F2 heavy chain and the protein related to b(0,+) amino acid transport on substrate affinity of the heteromeric b(0,+) amino acid transporter . J. Biol. Chem. . 275 . 19 . 14331–14335 . 2000 . 10799513 . 10.1074/jbc.275.19.14331 . free .
• Mizoguchi K, Cha SH, Chairoungdua A, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y . Human cystinuria-related transporter: localization and functional characterization . Kidney Int. . 59 . 5 . 1821–1833 . 2001 . 11318953 . 10.1046/j.1523-1755.2001.0590051821.x . free .
• Harnevik L, Fjellstedt E, Molbaek A, Tiselius HG, Denneberg T, Söderkvist P . Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients . Hum. Mutat. . 18 . 6 . 516–525 . 2002 . 11748844 . 10.1002/humu.1228 . 30914353 .
• Bauch C, Verrey F . Apical heterodimeric cystine and cationic amino acid transporter expressed in MDCK cells . Am. J. Physiol. Renal Physiol. . 283 . 1 . F181–9 . 2002 . 12060600 . 10.1152/ajprenal.00212.2001 . 20811615 .
• Fernández E, Carrascal M, Rousaud F, Abián J, Zorzano A, Palacín M, Chillarón J . rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney . Am. J. Physiol. Renal Physiol. . 283 . 3 . F540–8 . 2002 . 12167606 . 10.1152/ajprenal.00071.2002 .
• Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T . Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes . Kidney Int. . 62 . 4 . 1136–1142 . 2003 . 12234283 . 10.1111/j.1523-1755.2002.kid552.x . free .

Notes and References

1. Lee WS, Wells RG, Sabbag RV, Mohandas TK, Hediger MA . Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport . J Clin Invest . 91 . 5 . 1959–1963 . Jun 1993 . 8486766 . 288191 . 10.1172/JCI116415 .
2. Endsley JK, Phillips JA, Hruska KA, Denneberg T, Carlson J, George AL . Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria . Kidney Int . 51 . 6 . 1893–1899 . Aug 1997 . 9186880 . 10.1038/ki.1997.258 . free .
3. Web site: Entrez Gene: SLC3A1 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1.