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SLC3A1
Identifiers
Aliases	SLC3A1, ATR1, CSNU1, D2H, NBAT, RBAT, solute carrier family 3 member 1
External IDs	OMIM: 104614; MGI: 1195264; HomoloGene: 37289; GeneCards: SLC3A1; OMA:SLC3A1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2p21 Start 44,275,458 bp End 44,321,494 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 E4|17 55.17 cM Start 85,335,804 bp End 85,371,664 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas gallbladder islet of Langerhans human kidney mucosa of transverse colon rectum oocyte testicle secondary oocyte duodenum Top expressed in right kidney proximal tubule human kidney jejunum ileum proximal straight tubule left lobe of liver intestinal epithelium duodenum intestinal villus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function amino acid transmembrane transporter activity basic amino acid transmembrane transporter activity L-cystine transmembrane transporter activity catalytic activity protein binding protein heterodimerization activity Cellular component integral component of membrane membrane vacuolar membrane plasma membrane integral component of plasma membrane brush border membrane mitochondrial inner membrane extracellular exosome Biological process cellular amino acid metabolic process basic amino acid transport amino acid transport L-cystine transport amino acid transmembrane transport basic amino acid transmembrane transport transport carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6519 20532 Ensembl ENSG00000138079 ENSMUSG00000024131 UniProt Q07837 Q91WV7 RefSeq (mRNA) NM_000341 NM_009205 RefSeq (protein) NP_000332 NP_033231 Location (UCSC) Chr 2: 44.28 – 44.32 Mb Chr 17: 85.34 – 85.37 Mb PubMed search
Wikidata
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Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the SLC3A1 gene.

Mutations in the SLC3A1 gene are associated with cystinuria.

See also

• Heterodimeric amino acid transporter
• Solute carrier family

References

1. ^ GRCh38: Ensembl release 89: ENSG00000138079 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000024131 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. Endsley JK, Phillips JA, Hruska KA, Denneberg T, Carlson J, George AL (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.
7. "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, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M (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, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X (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. Bibcode:1995PNAS...92.9667C. doi:10.1073/pnas.92.21.9667. PMC 40863. PMID 7568194.
• Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A (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, Sone K, Segawa H, Yamamoto H, Taketani Y, Takada K, Morita K, Kanayama H (1995). "Mutations of the basic amino acid transporter gene associated with cystinuria". Biochem. J. 310 (3): 951–5. doi:10.1042/bj3100951. PMC 1135988. PMID 7575432.
• Bertran J, Werner A, Chillarón J, Nunes V, Biber J, Testar X, Zorzano A, Estivill X, Murer H, Palacín M (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. doi:10.1016/S0021-9258(18)82410-3. hdl:2445/181367. PMID 7686906.
• Busch AE, Herzer T, Waldegger S, Schmidt F, Palacin M, Biber J, 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. doi:10.1016/S0021-9258(18)47289-4. PMID 7929260.
• Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V (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. S2CID 60440459.
• Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F (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. S2CID 6627286.
• Ahmed A, Peter GJ, Taylor PM, Harper AA, Rennie MJ (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, Katai K, Yamamoto H, Taketani Y, Haga H, Morita K, Takeda E (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, Suyama A, Sugano S (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 PC, Brant AM, Peter GJ, Harper AA (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, Summa V, Sordat B, Verrey F, Kühn LC (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, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kühn LC, Verrey F (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.
• Rajan DP, Huang W, Kekuda R, George RL, Wang J, Conway SJ, Devoe LD, Leibach FH, Prasad PD, Ganapathy V (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, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y (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, Tiselius HG, Denneberg T, Söderkvist P (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. S2CID 30914353.
• 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. S2CID 20811615.
• Fernández E, Carrascal M, Rousaud F, Abián J, Zorzano A, Palacín M, Chillarón J (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, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T (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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