Property Summary

NCBI Gene PubMed Count 15
Grant Count 5
R01 Count 1
Funding $325,843.25
PubMed Score 29.56
PubTator Score 8.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.259 0.000

Gene RIF (7)

PMID Text
25795793 We show for the first time that an inherited mutation in PBRM1 predisposes to RCC.
25480913 Data confirm the relationship between mutations in LZTR1 and schwannomatosis. They indicate that germline mutations in LZTR1 confer an increased risk of vestibular schwannoma.
25335493 Data indicate that molecular analysis of leucine-zipper-like transcription regulator 1 (LZTR1) may contribute to the molecular characterization of schwannomatosis patients.
24362817 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
16356934 LZTR-1 is the first BTB-kelch protein that exclusively localizes to the Golgi network

AA Sequence

MAGPGSTGGQIGAAALAGGARSKVAPSVDFDHSCSDSVEYLTLNFGPFETVHRWRRLPPCDEFVGARRSK      1 - 70
HTVVAYKDAIYVFGGDNGKTMLNDLLRFDVKDCSWCRAFTTGTPPAPRYHHSAVVYGSSMFVFGGYTGDI     71 - 140
YSNSNLKNKNDLFEYKFATGQWTEWKIEGRLPVARSAHGATVYSDKLWIFAGYDGNARLNDMWTIGLQDR    141 - 210
ELTCWEEVAQSGEIPPSCCNFPVAVCRDKMFVFSGQSGAKITNNLFQFEFKDKTWTRIPTEHLLRGSPPP    211 - 280
PQRRYGHTMVAFDRHLYVFGGAADNTLPNELHCYDVDFQTWEVVQPSSDSEVGGAEVPERACASEEVPTL    281 - 350
TYEERVGFKKSRDVFGLDFGTTSAKQPTQPASELPSGRLFHAAAVISDAMYIFGGTVDNNIRSGEMYRFQ    351 - 420
FSCYPKCTLHEDYGRLWESRQFCDVEFVLGEKEECVQGHVAIVTARSRWLRRKITQARERLAQKLEQEAA    421 - 490
PVPREAPGVAAGGARPPLLHVAIREAEARPFEVLMQFLYTDKIKYPRKGHVEDVLLIMDVYKLALSFQLC    491 - 560
RLEQLCRQYIEASVDLQNVLVVCESAARLQLSQLKEHCLNFVVKESHFNQVIMMKEFERLSSPLIVEIVR    561 - 630
RKQQPPPRTPLDQPVDIGTSLIQDMKAYLEGAGAEFCDITLLLDGHPRPAHKAILAARSSYFEAMFRSFM    631 - 700
PEDGQVNISIGEMVPSRQAFESMLRYIYYGEVNMPPEDSLYLFAAPYYYGFYNNRLQAYCKQNLEMNVTV    701 - 770
QNVLQILEAADKTQALDMKRHCLHIIVHQFTKVSKLPTLRSLSQQLLLDIIDSLASHISDKQCAELGADI    771 - 840
//

Text Mined References (16)

PMID Year Title
25795793 2015 Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
25480913 2015 Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
25335493 2015 Expanding the mutational spectrum of LZTR1 in schwannomatosis.
24362817 2014 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
16356934 2006 The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15761153 2005 High-throughput mapping of a dynamic signaling network in mammalian cells.
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