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Neutral And Basic Amino Acid Transport Protein (NBAT)

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SLC3A1; ATR1; CSNU1; D2H; RBAT; Solute Carrier Family 3 Member 1,Cystine,Dibasic And Neutral Amino Acid Transporters,Activator,Dibasic And Neutral Amino Acid Transport

Neutral And Basic Amino Acid Transport Protein (NBAT)
CCC E347
HGNC 11025
MGI 1195264
PubMed 7539209
RGD 3709
UniProt Q07837
Wiki SLC3A1
SLC3A1 encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
The cDNA induced the high affinity uptake into oocytes of a broad spectrum of amino acids, including cystine and dibasic and neutral amino acids. Unlike most known transporters, D2 was found to be a type II membrane glycoprotein. It had a low but significant degree of similarity to alpha-glucosidases and to the 4F2 cell surface antigen heavy chain.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neutral And Basic Amino Acid Transport Protein (NBAT) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neutral And Basic Amino Acid Transport Protein (NBAT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neutral And Basic Amino Acid Transport Protein (NBAT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Neutral And Basic Amino Acid Transport Protein (NBAT) CLIA Kit Customized Service Offer
n/a ELISA Kit for Neutral And Basic Amino Acid Transport Protein (NBAT) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neutral And Basic Amino Acid Transport Protein (NBAT) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neutral And Basic Amino Acid Transport Protein (NBAT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neutral And Basic Amino Acid Transport Protein (NBAT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Neutral And Basic Amino Acid Transport Protein (NBAT) CLIA Kit Customized Service Offer
n/a ELISA Kit for Neutral And Basic Amino Acid Transport Protein (NBAT) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Neutral And Basic Amino Acid Transport Protein (NBAT) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Neutral And Basic Amino Acid Transport Protein (NBAT) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Neutral And Basic Amino Acid Transport Protein (NBAT) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Neutral And Basic Amino Acid Transport Protein (NBAT) CLIA Kit Customized Service Offer
n/a ELISA Kit for Neutral And Basic Amino Acid Transport Protein (NBAT) ELISA Kit Customized Service Offer
  1. "Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport."J. Clin. Invest. 91:1959-1963(1993) [PubMed] [Europe PMC] [Abstract]
  2. "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. 268:14842-14849(1993) [PubMed] [Europe PMC] [Abstract]
  3. "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. 271:16758-16763(1996) [PubMed] [Europe PMC] [Abstract]
  4. "Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria."Kidney Int. 51:1893-1899(1997) [PubMed] [Europe PMC] [Abstract]
  5. "Human cystinuria-related transporter: localization and functional characterization."Kidney Int. 59:1821-1833(2001) [PubMed] [Europe PMC] [Abstract]
  6. "The 2p21 deletion syndrome: characterization of the transcription content."Genomics 86:195-211(2005) [PubMed] [Europe PMC] [Abstract]
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Luminal heterodimeric amino acid transporter defective in cystinuria."Mol. Biol. Cell 10:4135-4147(1999) [PubMed] [Europe PMC] [Abstract]
  11. "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. 92:9667-9671(1995) [PubMed] [Europe PMC] [Abstract]
  12. "rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney."Am. J. Physiol. 283:F540-F548(2002) [PubMed] [Europe PMC] [Abstract]
  13. "Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome."Am. J. Hum. Genet. 78:38-51(2006) [PubMed] [Europe PMC] [Abstract]
  14. "Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine."Nat. Genet. 6:420-425(1994) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in the SLC3A1 transporter gene in cystinuria."Am. J. Hum. Genet. 56:1297-1303(1995) [PubMed] [Europe PMC] [Abstract]
  16. "Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity."Am. J. Hum. Genet. 57:781-788(1995) [PubMed] [Europe PMC] [Abstract]
  17. "Mutations of the basic amino acid transporter gene associated with cystinuria."Biochem. J. 310:951-955(1995) [PubMed] [Europe PMC] [Abstract]
  18. "Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics."Hum. Mutat. 15:390-390(2000) [PubMed] [Europe PMC] [Abstract]
  19. "Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients."Hum. Mutat. 18:516-525(2001) [PubMed] [Europe PMC] [Abstract]
  20. "Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes."Kidney Int. 62:1136-1142(2002) [PubMed] [Europe PMC] [Abstract]
  21. "Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients."Ann. Hum. Genet. 69:501-507(2005) [PubMed] [Europe PMC] [Abstract]
  22. "New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype."J. Med. Genet. 42:58-68(2005) [PubMed] [Europe PMC] [Abstract]
  23. "A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter."Kidney Int. 69:1198-1206(2006) [PubMed] [Europe PMC] [Abstract]
  24. "Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients."Mol. Genet. Metab. 99:42-52(2010) [PubMed] [Europe PMC] [Abstract]