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Neutral and basic amino acid transport protein rBAT

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(Redirected from SLC3A1)
SLC3A1
Identifiers
AliasesSLC3A1, ATR1, CSNU1, D2H, NBAT, RBAT, solute carrier family 3 member 1
External IDsOMIM: 104614; MGI: 1195264; HomoloGene: 37289; GeneCards: SLC3A1; OMA:SLC3A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000341

NM_009205

RefSeq (protein)

NP_000332

NP_033231

Location (UCSC)Chr 2: 44.28 – 44.32 MbChr 17: 85.34 – 85.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the SLC3A1 gene.[5][6][7]

Mutations in the SLC3A1 gene are associated with cystinuria.

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138079Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024131Ensembl, 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

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