Property Summary

NCBI Gene PubMed Count 30
PubMed Score 51.90
PubTator Score 61.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (21)

Disease log2 FC p
nephrosclerosis -1.739 5.0e-03
cutaneous lupus erythematosus 1.800 3.2e-03
osteosarcoma -1.139 4.3e-02
glioblastoma 1.800 1.0e-03
tuberculosis 1.300 3.2e-08
non-small cell lung cancer -1.692 7.6e-16
intraductal papillary-mucinous neoplasm ... 1.900 4.7e-03
lung cancer -2.200 1.4e-04
active ulcerative colitis 1.881 4.4e-02
interstitial cystitis 1.900 4.1e-04
cystic fibrosis -1.100 2.0e-04
pediatric high grade glioma 1.100 4.4e-03
pilocytic astrocytoma 1.100 5.4e-05
primary Sjogren syndrome 1.300 3.1e-03
subependymal giant cell astrocytoma 1.972 2.7e-03
lung adenocarcinoma -1.203 1.0e-06
lung carcinoma -2.900 3.6e-27
gastric carcinoma 1.500 1.9e-02
mucosa-associated lymphoid tissue lympho... 2.611 1.8e-02
ovarian cancer -2.400 8.0e-10
head and neck cancer and chronic obstruc... 1.200 5.7e-04

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
15776427 mutations of the SLC7A7 gene may have a role in lysinuric protein intolerance
15756301 putative multiheteromeric structure of both [4F2hc/y(+)LAT-1] and [4F2hc/y(+)LAT-2], and the interference between y(+)LAT-1 and y(+)LAT-2 proteins may have a role in the pathogenesis of lysinuric protein intolerance
12589791 expression levels and putative 5' promoter elements of the SLC7A7 gene
12402335 novel SLC7A7 mutations in patients with lysinuric protein intolerance

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.
17764084 2008 Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
17666782 2007 First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.
17530437 2007 Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.
17329401 2007 Activation of classical protein kinase C decreases transport via systems y+ and y+L.
17197568 2007 Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells.
17196863 2007 Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15901826 2005 Metabolic activation-related CD147-CD98 complex.
15776427 2005 Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
15756301 2005 A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15280038 2004 INFgamma stimulates arginine transport through system y+L in human monocytes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14603368 2003 Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium.
12589791 2003 Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12402335 2002 Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
11742806 2002 Two-way arginine transport in human endothelial cells: TNF-alpha stimulation is restricted to system y(+).
11078698 2000 Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects.
10737982 2000 SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.
10655553 2000 Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
10631139 2000 Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
10080183 1999 SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
10080182 1999 Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
9878049 1999 Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family.
9829974 1998 Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.
9199570 1997 Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.