Neutral and basic amino acid transport protein rBAT
Template:PBB 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
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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: numeric names: authors list (link) - ^ "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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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. doi:10.1007/bf00209478. PMID 7789946.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help)CS1 maint: unflagged free DOI (link) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help)CS1 maint: unflagged free DOI (link) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help)CS1 maint: unflagged free DOI (link) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help)CS1 maint: unflagged free DOI (link) - Pfeiffer R; Loffing J; Rossier G; et al. (2000). "Luminal heterodimeric amino acid transporter defective in cystinuria". Mol. Biol. Cell. 10 (12): 4135–47. doi:10.1091/mbc.10.12.4135. PMC 25748. PMID 10588648.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help)CS1 maint: unflagged free DOI (link) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help); replacement character in|first4=at position 7 (help); replacement character in|last6=at position 2 (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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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