SLC3A1

SLC3A1

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.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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6519| accessdate = ]

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ee also

* Solute carrier family

References

Further reading

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*cite journal | author=Pras E, Raben N, Golomb E, "et al." |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 |doi=
*cite journal | author=Calonge MJ, Volpini V, Bisceglia L, "et al." |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= 9667–71 |year= 1995 |pmid= 7568194 |doi=
*cite journal | author=Gasparini P, Calonge MJ, Bisceglia L, "et al." |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 |doi=
*cite journal | author=Miyamoto K, Katai K, Tatsumi S, "et al." |title=Mutations of the basic amino acid transporter gene associated with cystinuria. |journal=Biochem. J. |volume=310 ( Pt 3) |issue= |pages= 951–5 |year= 1995 |pmid= 7575432 |doi=
*cite journal | author=Bertran J, Werner A, Chillarón J, "et al." |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 | author=Calonge MJ, Nadal M, Calvano S, "et al." |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=
*cite journal | author=Calonge MJ, Gasparini P, Chillarón J, "et al." |title=Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. |journal=Nat. Genet. |volume=6 |issue= 4 |pages= 420–5 |year= 1994 |pmid= 8054986 |doi= 10.1038/ng0494-420
*cite journal | author=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= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Lee WS, Wells RG, Sabbag RV, "et al." |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= 1959–63 |year= 1993 |pmid= 8486766 |doi=
*cite journal | author=Miyamoto K, Segawa H, Tatsumi S, "et al." |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= 16758–63 |year= 1996 |pmid= 8663184 |doi=
*cite journal | author=Endsley JK, Phillips JA, Hruska KA, "et 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= 1893–9 |year= 1997 |pmid= 9186880 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Rossier G, Meier C, Bauch C, "et al." |title=LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine. |journal=J. Biol. Chem. |volume=274 |issue= 49 |pages= 34948–54 |year= 2000 |pmid= 10574970 |doi=
*cite journal | author=Pfeiffer R, Loffing J, Rossier G, "et al." |title=Luminal heterodimeric amino acid transporter defective in cystinuria. |journal=Mol. Biol. Cell |volume=10 |issue= 12 |pages= 4135–47 |year= 2000 |pmid= 10588648 |doi=
*cite journal | author=Rajan DP, Huang W, Kekuda R, "et al." |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= 14331–5 |year= 2000 |pmid= 10799513 |doi=
*cite journal | author=Mizoguchi K, Cha SH, Chairoungdua A, "et al." |title=Human cystinuria-related transporter: localization and functional characterization. |journal=Kidney Int. |volume=59 |issue= 5 |pages= 1821–33 |year= 2001 |pmid= 11318953 |doi= 10.1046/j.1523-1755.2001.0590051821.x
*cite journal | author=Harnevik L, Fjellstedt E, Molbaek A, "et al." |title=Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. |journal=Hum. Mutat. |volume=18 |issue= 6 |pages= 516–25 |year= 2002 |pmid= 11748844 |doi= 10.1002/humu.1228
*cite journal | author=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 | author=Fernández E, Carrascal M, Rousaud F, "et al." |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 | author=Botzenhart E, Vester U, Schmidt C, "et al." |title=Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. |journal=Kidney Int. |volume=62 |issue= 4 |pages= 1136–42 |year= 2003 |pmid= 12234283 |doi= 10.1111/j.1523-1755.2002.kid552.x

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