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Sodium-dependent neutral amino acid transporter B(0)AT1

From Wikipedia, the free encyclopedia
(Redirected fromSLC6A19)
Protein-coding gene in the species Homo sapiens

SLC6A19
Identifiers
AliasesSLC6A19, B0AT1, HND, solute carrier family 6 member 19
External IDsOMIM:608893;MGI:1921588;HomoloGene:52819;GeneCards:SLC6A19;OMA:SLC6A19 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for SLC6A19
Genomic location for SLC6A19
Band5p15.33Start1,201,595bp[1]
End1,225,111bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for SLC6A19
Genomic location for SLC6A19
Band13|13 C1Start73,827,864bp[2]
End73,852,984bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of ileum

  • jejunal mucosa

  • duodenum

  • human kidney

  • renal medulla

  • rectum

  • mucosa of colon

  • gallbladder

  • mucosa of sigmoid colon

  • renal cortex
Top expressed in
  • jejunum

  • ileum

  • right kidney

  • human kidney

  • epithelium of small intestine

  • lumbar spinal ganglion

  • duodenum

  • esophagus

  • lip

  • Paneth cell
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

340024

74338

Ensembl

ENSG00000174358

ENSMUSG00000021565

UniProt

Q695T7

Q9D687

RefSeq (mRNA)

NM_001003841

NM_028878
NM_001359603

RefSeq (protein)

NP_001003841

NP_083154
NP_001346532

Location (UCSC)Chr 5: 1.2 – 1.23 MbChr 13: 73.83 – 73.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium-dependent neutral amino acid transporter B(0)AT1 is aprotein that in humans is encoded by theSLC6A19gene.[5]

Function

[edit]

SLC6A19 is a system B(0)transporter that mediates epithelial resorption of neutral amino acids across theapical membrane in the kidney and intestine.[6][7]

Clinical significance

[edit]

Mutations in the SLC6A19 gene causeHartnup disease.[5][8]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000174358 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000021565 –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. ^abKleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, et al. (September 2004)."Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder".Nature Genetics.36 (9):999–1002.doi:10.1038/ng1405.PMID 15286787.S2CID 155361.
  6. ^Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Bröer S (June 2004)."Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder".Journal of Biological Chemistry.279 (23):24467–24476.doi:10.1074/jbc.M400904200.PMID 15044460.
  7. ^Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia".Physiological Reviews.88 (1):249–286.doi:10.1152/physrev.00018.2006.PMID 18195088.
  8. ^Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, et al. (September 2004)."Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19".Nature Genetics.36 (9):1003–1007.doi:10.1038/ng1406.PMID 15286788.

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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(13):
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(17):
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SLC21–30
(21):
(22):
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SLC31–40
(31):
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SLC41–48
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SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)
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