SLC3A1
From Wikipedia, the free encyclopedia
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
References
- ↑ Lee WS, Wells RG, Sabbag RV, Mohandas TK, Hediger MA (Jun 1993). "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. doi:10.1172/JCI116415. PMC 288191. PMID 8486766.
- ↑ Endsley JK, Phillips JA 3rd, Hruska KA, Denneberg T, Carlson J, George AL Jr (Aug 1997). "Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria". Kidney Int 51 (6): 1893–1899. doi:10.1038/ki.1997.258. PMID 9186880.
- ↑ "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".
Further reading
- Pras E, Raben N, Golomb E et al. (1995). "Mutations in the SLC3A1 transporter gene in cystinuria". Am. J. Hum. Genet. 56 (6): 1297–303. PMC 1801089. PMID 7539209.
- Calonge MJ, Volpini V, Bisceglia L et al. (1995). "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. doi:10.1073/pnas.92.21.9667. PMC 40863. PMID 7568194.
- Gasparini P, Calonge MJ, Bisceglia L et al. (1995). "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. PMC 1801520. PMID 7573036.
- Miyamoto K, Katai K, Tatsumi S et al. (1995). "Mutations of the basic amino acid transporter gene associated with cystinuria". Biochem. J. 310 (3): 951–5. PMC 1135988. PMID 7575432.
- Bertran J, Werner A, Chillarón J et al. (1993). "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. PMID 7686906.
- Busch, A, Herzer, T, Waldegger, S et al. (1994). "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. PMID 7929260.
- Calonge MJ, Nadal M, Calvano S et al. (1995). "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. PMID 7789946.
- Calonge MJ, Gasparini P, Chillarón J et al. (1994). "Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine". Nat. Genet. 6 (4): 420–425. doi:10.1038/ng0494-420. PMID 8054986.
- Ahmed, A, Peter, G, Taylor, P (1995). "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. doi:10.1074/jbc.270.15.8482. PMID 7721744.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Miyamoto K, Segawa H, Tatsumi S et al. (1996). "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. doi:10.1074/jbc.271.28.16758. PMID 8663184.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Ahmed, A, Yao, P, Brant, A (1997). "Electrogenic L-Histidine Transport in Neutral and Basic Amino Acid Transporter (NBAT)-expressing Xenopus laevis Oocytes". J. Biol. Chem. 272 (1): 125–130. doi:10.1074/jbc.272.1.125. PMID 8995237.
- Rossier G, Meier C, Bauch C et al. (2000). "LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine". J. Biol. Chem. 274 (49): 34948–34954. doi:10.1074/jbc.274.49.34948. PMID 10574970.
- Pfeiffer R, Loffing J, Rossier G et al. (2000). "Luminal heterodimeric amino acid transporter defective in cystinuria". Mol. Biol. Cell 10 (12): 4135–47. PMC 25748. PMID 10588648.
- Rajan DP, Huang W, Kekuda R et al. (2000). "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. doi:10.1074/jbc.275.19.14331. PMID 10799513.
- Mizoguchi K, Cha SH, Chairoungdua A et al. (2001). "Human cystinuria-related transporter: localization and functional characterization". Kidney Int. 59 (5): 1821–1833. doi:10.1046/j.1523-1755.2001.0590051821.x. PMID 11318953.
- Harnevik L, Fjellstedt E, Molbaek A et al. (2002). "Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients". Hum. Mutat. 18 (6): 516–525. doi:10.1002/humu.1228. PMID 11748844.
- Bauch C, Verrey F (2002). "Apical heterodimeric cystine and cationic amino acid transporter expressed in MDCK cells". Am. J. Physiol. Renal Physiol. 283 (1): F181–9. doi:10.1152/ajprenal.00212.2001. PMID 12060600.
- Fernández E, Carrascal M, Rousaud F et al. (2002). "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. doi:10.1152/ajprenal.00071.2002. PMID 12167606.
- Botzenhart E, Vester U, Schmidt C et al. (2003). "Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes". Kidney Int. 62 (4): 1136–1142. doi:10.1111/j.1523-1755.2002.kid552.x. PMID 12234283.
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