View source for SLC3A1

{{Infobox_gene}}
'''Neutral and basic amino acid transport protein rBAT''' is a [[protein]] that in humans is encoded by the ''SLC3A1'' [[gene]].<ref name="pmid8486766">{{cite journal | vauthors = Lee WS, Wells RG, Sabbag RV, Mohandas TK, Hediger MA | title = Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport | journal = J Clin Invest | volume = 91 | issue = 5 | pages = 1959–1963 | date = Jun 1993 | pmid = 8486766 | pmc = 288191 | doi = 10.1172/JCI116415 }}</ref><ref name="pmid9186880">{{cite journal | vauthors = Endsley JK, Phillips JA, Hruska KA, Denneberg T, Carlson J, George AL | title = Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria | journal = Kidney Int | volume = 51 | issue = 6 | pages = 1893–1899 | date = Aug 1997 | pmid = 9186880 | pmc =  | doi = 10.1038/ki.1997.258 }}</ref><ref name="entrez">{{cite web | title = 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| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6519| accessdate = }}</ref>

Mutations in the SLC3A1 gene are associated with [[cystinuria]].

== See also ==
* [[Heterodimeric amino acid transporter]]
* [[Solute carrier family]]

== References ==
{{reflist}}

== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M | title = Mutations in the SLC3A1 transporter gene in cystinuria | journal = Am. J. Hum. Genet. | volume = 56 | issue = 6 | pages = 1297–303 | year = 1995 | pmid = 7539209 | pmc = 1801089 | doi =  }}
* {{cite journal | vauthors = Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X | title = Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 92 | issue = 21 | pages = 9667–9671 | year = 1995 | pmid = 7568194 | pmc = 40863 | doi = 10.1073/pnas.92.21.9667 }}
* {{cite journal | vauthors = Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A | title = Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity | journal = Am. J. Hum. Genet. | volume = 57 | issue = 4 | pages = 781–8 | year = 1995 | pmid = 7573036 | pmc = 1801520 | doi =  }}
* {{cite journal | vauthors = Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H, Taketani Y, Takada K, Morita K, Kanayama H | title = Mutations of the basic amino acid transporter gene associated with cystinuria | journal = Biochem. J. | volume = 310 | issue = 3 | pages = 951–5 | year = 1995 | pmid = 7575432 | pmc = 1135988 | doi =  }}
* {{cite journal | vauthors = Bertran J, Werner A, Chillarón J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacín M | title = Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes | journal = J. Biol. Chem. | volume = 268 | issue = 20 | pages = 14842–9 | year = 1993 | pmid = 7686906 | doi =  }}
* {{cite journal | vauthors = Busch AE, Herzer T, Waldegger S, Schmidt F, Palacin M, Biber J, Markovich D, Murer H, Lang F | title = Opposite directed currents induced by the transport of dibasic and neutral amino acids in Xenopus oocytes expressing the protein rBAT | journal = J. Biol. Chem. | volume = 269 | issue = 41 | pages = 25581–6 | year = 1994 | pmid = 7929260 | last8 = Murer | first8 = H | last9 = Lang | display-authors = 6 |name-list-format=vanc| first9 = F | last7 = Markovich | first7 = D }}
* {{cite journal | vauthors = Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V | title = Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization | journal = Hum. Genet. | volume = 95 | issue = 6 | pages = 633–6 | year = 1995 | pmid = 7789946 | doi = 10.1007/bf00209478 }}
* {{cite journal | vauthors = Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F | title = Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine | journal = Nat. Genet. | volume = 6 | issue = 4 | pages = 420–425 | year = 1994 | pmid = 8054986 | doi = 10.1038/ng0494-420 }}
* {{cite journal | vauthors = Ahmed A, Peter GJ, Taylor PM, Harper AA, Rennie MJ | title = Sodium-independent Currents of Opposite Polarity Evoked by Neutral and Cationic Amino Acids in Neutral and Basic Amino Acid Transporter cRNA-injected Oocytes | journal = J. Biol. Chem. | volume = 270 | issue = 21 | pages = 8482–8486 | year = 1995 | pmid = 7721744 | pmc =  | doi = 10.1074/jbc.270.15.8482 }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–174 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
* {{cite journal | vauthors = Miyamoto K, Segawa H, Tatsumi S, Katai K, Yamamoto H, Taketani Y, Haga H, Morita K, Takeda E | title = 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 | journal = J. Biol. Chem. | volume = 271 | issue = 28 | pages = 16758–16763 | year = 1996 | pmid = 8663184 | doi = 10.1074/jbc.271.28.16758 }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–156 | year = 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
* {{cite journal | vauthors = Ahmed A, Yao PC, Brant AM, Peter GJ, Harper AA | title = Electrogenic L-Histidine Transport in Neutral and Basic Amino Acid Transporter (NBAT)-expressing Xenopus laevis Oocytes | journal = J. Biol. Chem. | volume = 272 | issue = 1 | pages = 125–130 | year = 1997 | pmid = 8995237 | doi = 10.1074/jbc.272.1.125 }}
* {{cite journal | vauthors = Rossier G, Meier C, Bauch C, Summa V, Sordat B, Verrey F, Kühn LC | title = LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine | journal = J. Biol. Chem. | volume = 274 | issue = 49 | pages = 34948–34954 | year = 2000 | pmid = 10574970 | doi = 10.1074/jbc.274.49.34948 }}
* {{cite journal | vauthors = Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kühn LC, Verrey F | title = Luminal heterodimeric amino acid transporter defective in cystinuria | journal = Mol. Biol. Cell | volume = 10 | issue = 12 | pages = 4135–47 | year = 2000 | pmid = 10588648 | pmc = 25748 | doi = 10.1091/mbc.10.12.4135 }}
* {{cite journal | vauthors = Rajan DP, Huang W, Kekuda R, George RL, Wang J, Conway SJ, Devoe LD, Leibach FH, Prasad PD, Ganapathy V | title = 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 | journal = J. Biol. Chem. | volume = 275 | issue = 19 | pages = 14331–14335 | year = 2000 | pmid = 10799513 | doi = 10.1074/jbc.275.19.14331 }}
* {{cite journal | vauthors = 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 | title = Human cystinuria-related transporter: localization and functional characterization | journal = Kidney Int. | volume = 59 | issue = 5 | pages = 1821–1833 | year = 2001 | pmid = 11318953 | doi = 10.1046/j.1523-1755.2001.0590051821.x }}
* {{cite journal | vauthors = Harnevik L, Fjellstedt E, Molbaek A, Tiselius HG, Denneberg T, Söderkvist P | title = Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients | journal = Hum. Mutat. | volume = 18 | issue = 6 | pages = 516–525 | year = 2002 | pmid = 11748844 | doi = 10.1002/humu.1228 }}
* {{cite journal | vauthors = Bauch C, Verrey F | title = Apical heterodimeric cystine and cationic amino acid transporter expressed in MDCK cells | journal = Am. J. Physiol. Renal Physiol. | volume = 283 | issue = 1 | pages = F181–9 | year = 2002 | pmid = 12060600 | doi = 10.1152/ajprenal.00212.2001 }}
* {{cite journal | vauthors = Fernández E, Carrascal M, Rousaud F, Abián J, Zorzano A, Palacín M, Chillarón J | title = rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney | journal = Am. J. Physiol. Renal Physiol. | volume = 283 | issue = 3 | pages = F540–8 | year = 2002 | pmid = 12167606 | doi = 10.1152/ajprenal.00071.2002 }}
* {{cite journal | vauthors = Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T | title = Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes | journal = Kidney Int. | volume = 62 | issue = 4 | pages = 1136–1142 | year = 2003 | pmid = 12234283 | doi = 10.1111/j.1523-1755.2002.kid552.x }}
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[[Category:Solute carrier family]]


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