Property Summary

NCBI Gene PubMed Count 30
PubMed Score 51.90
PubTator Score 61.52

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9UM01 B2RAU0 D3DS26 O95984 Q53XC1 Q86U07 Q9P2V5
Symbols LPI
LAT3
MOP-2
Y+LAT1
y+LAT-1

Gene

PANTHER Protein Class (2)

Gene RIF (14)

PMID Text
26882824 the 1471 delTTCT mutation was identified in exon 9 in the homozygous state for all Tunisian patients with lysinuric protein Intolerance; The 1471 deITTCT mutation seems to be a common mutation of Tunisian population
23975734 SLC7A7 genetic variants are associated with increase risk for glioma in a Chinese population.
23940088 heteromerization of y+LAT1 and 4F2hc within the cell is not disrupted by any of the tested LPI mutations
23408368 SLC7A7 plays a critical role in glioblastoma carcinogenesis and overexpression of SLC7A7 is correlated with worse outcomes in patients
22325938 SLC7A7/y+LAT1 mutations lead to a defective phenotype of macrophages resulting in lysinuric Protein Intolerance.
21586674 during differentiation of human monocytes from peripheral blood, SLC7A7 mRNA and system y(+)L activity are increased
18716612 results suggest genomic rearrangement of SLC7A7 play more important role in lysinuric protein intolerance than has been reported; 3' region AluY repeat could be a recombination hot spot as it is involved in 38% of SLC7A7 rearranged chromosomes described
17764084 A review of the current knowledge of SLC7A7 mutations and their role in LPI pathogenesis.
17666782 Mutation in the SLC7A7 gene is associated with lysinuric protein intolerance
17196863 identified a novel alternative, TATA-box-containing promoter that plays a role in the tissue-specific regulation of SLC7A7 gene expression
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AA Sequence

MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVCLIVGNMIGSGIFVSPKGVLIYSASFG      1 - 70
LSLVIWAVGGLFSVFGALCYAELGTTIKKSGASYAYILEAFGGFLAFIRLWTSLLIIEPTSQAIIAITFA     71 - 140
NYMVQPLFPSCFAPYAASRLLAAACICLLTFINCAYVKWGTLVQDIFTYAKVLALIAVIVAGIVRLGQGA    141 - 210
STHFENSFEGSSFAVGDIALALYSALFSYSGWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVA    211 - 280
YYTVLDMRDILASDAVAVTFADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICM    281 - 350
IHVERFTPVPSLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRPRPLKLSVFF    351 - 420
PIVFCLCTIFLVAVPLYSDTINSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSATRYLQVLCMSV    421 - 490
AAEMDLEDGGEMPKQRDPKSN                                                     491 - 511
//

Text Mined References (38)

PMID Year Title
26882824 2015 1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
23975734 2013 Genetic variants in SLC7A7 are associated with risk of glioma in a Chinese population.
23940088 2013 Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations.
23408368 2013 Overexpression of SLC7A7 predicts poor progression-free and overall survival in patients with glioblastoma.
22325938 2012 Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
21586674 2011 Arginine transport in human monocytic leukemia THP-1 cells during macrophage differentiation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18716612 2009 Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
18195088 2008 Amino acid transport across mammalian intestinal and renal epithelia.
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