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Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
Identifiers
Symbols SLC3A1; ATR1; CSNU1; D2H; FLJ34681; NBAT; RBAT
External IDs OMIM104614 MGI1195264 HomoloGene37289 GeneCards: SLC3A1 Gene
RNA expression pattern
PBB GE SLC3A1 205799 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6519 20532
Ensembl ENSG00000138079 ENSMUSG00000024131
UniProt Q07837 n/a
RefSeq (mRNA) NM_000341 XM_001003828
RefSeq (protein) NP_000332 XP_001003828
Location (UCSC) Chr 2:
44.36 - 44.4 Mb
Chr 17:
84.94 - 84.97 Mb
PubMed search [1] [2]

SLC3A1 is a protein associated with cystinuria.

Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the SLC3A1 gene.[1][2][3]

See also

References

  1. ^ 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): 1959-63. doi:10.1172/JCI116415. PMID 8486766.  
  2. ^ 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): 1893-9. PMID 9186880.  
  3. ^ "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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6519.  

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:10.1038/ng0494-420. 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.  
  • 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.  
  • 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: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): 516–25. 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): 1136–42. doi:10.1111/j.1523-1755.2002.kid552.x. PMID 12234283.  
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