Property Summary

NCBI Gene PubMed Count 57
Grant Count 12
R01 Count 8
Funding $1,520,853.74
PubMed Score 100.60
PubTator Score 50.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

Disease log2 FC p
Multiple myeloma 1.132 0.049
malignant mesothelioma 5.000 0.000
esophageal adenocarcinoma 1.100 0.036
osteosarcoma 1.361 0.005
posterior fossa group A ependymoma 1.500 0.000
glioblastoma 2.100 0.003
atypical teratoid / rhabdoid tumor 1.500 0.000
medulloblastoma, large-cell -1.100 0.011
primitive neuroectodermal tumor 1.800 0.000
primary pancreatic ductal adenocarcinoma 1.308 0.005
lung cancer -3.000 0.000
pediatric high grade glioma 1.200 0.002
pilocytic astrocytoma 1.800 0.000
lung carcinoma -1.800 0.000
ovarian cancer -2.200 0.000
pituitary cancer -1.900 0.000
Down syndrome 1.100 0.003
pancreatic cancer 1.500 0.001
dermatomyositis 1.100 0.001

Gene RIF (33)

PMID Text
26716897 PIG7 promotes leukemia cell chemosensitivity via lysosomal membrane permeabilization.
26573228 Suggest LITAF as regulatory of pro-inflammatory and pro-fibrogenic pattern in non-alcoholic fatty liver disease.
26324337 LITAF may serve as a switch in the balance between classical and alternative activation in tumor-associated inflammation. (Review)
25342198 Study shows that the I92V LITAF sequence variant would be a good candidate for a biomarker in the case of the CMT1A/HNPP disorders.
25058650 Results show that LITAF mutants in Charcot-Marie-Tooth 1C have an altered intracellular localization. They localize either completely or partially in the mitochondria depending on the mutation site. This can explain the different severity of the disease.
24880540 The results of this study findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks.
24668782 Early-onset hereditary neuropathy with liability to pressure palsy (HNPP) was associated frequently with isoleucine92valine LITAF polymorphism.
23795761 LITAF, a BCL6 target gene, regulates autophagy in mature B-cell lymphomas.
23576546 Mutation of SIMPLE (Litaf) in Charcot-Marie-Tooth 1C disease alters production of exosomes.
23333304 HIV-1 Vif upregulates the expression of lipopolysaccharide-induced TNF factor (LITAF) in Vif-expression T cells
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AA Sequence

MSVPGPYQAATGPSSAPSAPPSYEETVAVNSYYPTPPAPMPGPTTGLVTGPDGKGMNPPSYYTQPAPIPN      1 - 70
NNPITVQTVYVQHPITFLDRPIQMCCPSCNKMIVSQLSYNAGALTWLSCGSLCLLGCIAGCCFIPFCVDA     71 - 140
LQDVDHYCPNCRALLGTYKRL                                                     141 - 161
//

Text Mined References (57)

PMID Year Title
26716897 2016 PIG7 promotes leukemia cell chemosensitivity via lysosomal membrane permeabilization.
26573228 2015 LPS-induced TNF-? factor mediates pro-inflammatory and pro-fibrogenic pattern in non-alcoholic fatty liver disease.
26324337 2015 Lipopolysaccharide-induced tumor necrosis factor-? factor enhances inflammation and is associated with cancer (Review).
25416956 2014 A proteome-scale map of the human interactome network.
25342198 2015 The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.
25058650 2014 LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.
24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
24880540 2014 A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.
24668782 2014 Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
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