SLC3A1
From Wikipedia, the free encyclopedia
SLC3A1 is a protein associated with cystinuria.
Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1, also known as SLC3A1, is a human gene.[1]
[edit] See also
[edit] References
[edit] 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. 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): 9667–71. 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. 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 ( Pt 3): 951–5. 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.
- 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): 420–5. doi:. PMID 8054986.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
- Lee WS, Wells RG, Sabbag RV, et al. (1993). "Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport.". J. Clin. Invest. 91 (5): 1959–63. PMID 8486766.
- 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): 16758–63. PMID 8663184.
- Endsley JK, Phillips JA, Hruska KA, et al. (1997). "Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.". Kidney Int. 51 (6): 1893–9. PMID 9186880.
- 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): 149–56. PMID 9373149.
- 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): 34948–54. 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. 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): 14331–5. PMID 10799513.
- Mizoguchi K, Cha SH, Chairoungdua A, et al. (2001). "Human cystinuria-related transporter: localization and functional characterization.". Kidney Int. 59 (5): 1821–33. doi:. 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): 516–25. doi:. 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:. 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:. 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): 1136–42. doi:. PMID 12234283.
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