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Neutral and basic amino acid transport protein rBAT

From Wikipedia, the free encyclopedia
(Redirected fromSLC3A1)
Protein-coding gene in the species Homo sapiens
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
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for SLC3A1
Genomic location for SLC3A1
Band2p21Start44,275,458bp[1]
End44,321,494bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for SLC3A1
Genomic location for SLC3A1
Band17 E4|17 55.17 cMStart85,335,804bp[2]
End85,371,664bp[2]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 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 aprotein that in humans is encoded by theSLC3A1gene.[5][6][7]

Mutations in the SLC3A1 gene are associated withcystinuria.

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000138079 –Ensembl, May 2017
  2. ^abcGRCm38: 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

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By group
SLC1–10
(1):
(2):
(3):
(4):
(5):
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SLC11–20
(11):
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(14):
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(17):
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SLC21–30
(21):
(22):
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SLC31–40
(31):
(32):
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SLC41–48
(41):
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(47):
(48):
SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


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