Property Summary

NCBI Gene PubMed Count 20
PubMed Score 64.46
PubTator Score 28.76

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 1.269 0.000
atypical teratoid / rhabdoid tumor 1.100 0.007
medulloblastoma, large-cell 1.400 0.000
ovarian cancer 1.300 0.000

Synonym

Accession Q695T7 A8K446
Symbols HND
B0AT1

Gene

PANTHER Protein Class (2)

Gene RIF (12)

PMID Text
25534429 SIT1, B(0)AT1 and ACE2 were co-localized in the brush-border membrane of small intestine enterocytes.
23234856 PKB/Akt up-regulates SLC6A19 activity, which may foster amino acid uptake into PKB/Akt-expressing epithelial and tumor cells.
21964291 JAK2 up-regulates SLC6A19 activity which may foster amino acid uptake into JAK2 expressing cells.
20883558 Average loss of solute carrier expression was similar in acute tubular necrosis (77%) and T cell-mediated rejection (75%) with high correlation of individual transcripts.
20399395 A novel SLC6A19 gene mutation is associated with late-onset seizures in a Korean patient with Hartnup disorder.
19335424 novel homozygous mutation of G284R in the transmembrane domain of the SLC6A19 transporter found in the proband, with typical dermatologic and neurologic manifestations and increased levels of urinary neutral amino acids
19322909 Suggest that amino acid transporters B(0)AT1 and b(0,+)AT are involved in the reabsorption of L-citrulline in the kidney, at least in part, by mediating the apical membrane transport of L-citrulline in renal tubule cells.
18671945 These findings suggest that the rare SLC6A19-MS7 allele may be a risk factor for hypertension.
18671945 Observational study of gene-disease association. (HuGE Navigator)
18484095 Hartnup disorder is allelically heterogeneous with two mutated SLC6A19 allele.
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AA Sequence

MVRLVLPNPGLDARIPSLAELETIEQEEASSRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAF      1 - 70
MIPFLILLVLEGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYL     71 - 140
FNSFQEPLPWSDCPLNENQTGYVDECARSSPVDYFWYRETLNISTSISDSGSIQWWMLLCLACAWSVLYM    141 - 210
CTIRGIETTGKAVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFS    211 - 280
LAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIVVYSVIGFRATQRYDDCFSTNILTLINGFDL    281 - 350
PEGNVTQENFVDMQQRCNASDPAAYAQLVFQTCDINAFLSEAVEGTGLAFIVFTEAITKMPLSPLWSVLF    351 - 420
FIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKWPKEVLTGLICLGTFLIGFIFTLNSGQYWLSLLDSYAG    421 - 490
SIPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIFWQVTWRVVSPLLMLIIFLFFFVVEVSQELTY    491 - 560
SIWDPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGYAIYKLIRNHCQKPGDHQGLVSTLSTASMNG    561 - 630
DLKY                                                                      631 - 634
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Text Mined References (20)

PMID Year Title
25534429 2015 Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors.
25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23234856 2012 Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve.
21964291 2011 Stimulation of the amino acid transporter SLC6A19 by JAK2.
20883558 2010 Loss of solute carriers in T cell-mediated rejection in mouse and human kidneys: an active epithelial injury-repair response.
20399395 2010 Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
19335424 2009 A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.
19322909 2009 Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
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