Property Summary

NCBI Gene PubMed Count 57
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 4.9e-02
malignant mesothelioma 5.000 1.2e-09
esophageal adenocarcinoma 1.100 3.6e-02
osteosarcoma 1.361 4.9e-03
posterior fossa group A ependymoma 1.500 1.8e-07
glioblastoma 2.100 2.6e-03
atypical teratoid / rhabdoid tumor 1.500 4.6e-04
medulloblastoma, large-cell -1.100 1.1e-02
primitive neuroectodermal tumor 1.800 3.9e-04
primary pancreatic ductal adenocarcinoma 1.308 5.3e-03
lung cancer -3.000 1.8e-04
pediatric high grade glioma 1.200 1.7e-03
pilocytic astrocytoma 1.800 7.2e-07
lung carcinoma -1.800 3.3e-32
ovarian cancer -2.200 1.1e-06
pituitary cancer -1.900 5.1e-06
Down syndrome 1.100 2.6e-03
pancreatic cancer 1.500 1.5e-03
dermatomyositis 1.100 8.9e-04

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
23166352 The findings indicate a function of SIMPLE as a regulator of endosomal trafficking and provide evidence linking dysregulated endosomal trafficking to CMT pathogenesis.
22765307 In the title.
22282245 It is concluded that PA can induce insulin resistance in liver cells and knockdown of LITAF expression can reduce insulin resistance in liver cells.
21896645 Our findings suggest that SIMPLE mutations cause Charcot-Marie-Tooth type 1 C peripheral neuropathy by a combination of loss-of-function and toxic gain-of-function mechanisms
21836606 PIG7 could be transactivated by AML1, which subsequently induces differentiation and apoptosis of leukemia cells, especially those with AML1-ETO fusion gene
21362361 LITAF is associated with obesity and insulin resistance, as well as inflammatory cytokine secretion. The results indicate LITAF to be a new mediator between inflammation and the obesity related disorders.
21326863 Itch protein re-localization is dependent upon the interaction with the PPXY sequences of LITAF, since disruption of these binding motifs completely abrogates Itch re-localization.
21217782 studies for the first time establish the regulatory axis of AMPK-LITAF-TNFSF15 and also suggest that LITAF may function as a tumor suppressor
20957525 Lipopolysaccharide-induced tumor necrosis factor (LITAF) interacted with CIDE-3 in hepatic cells.
20709679 Two sequence variations c.269G-->A and c.274A-->G were detected in LITAF gene and two sequence variations c.1243G-->A and c.1910C-->T were detected in LMNA gene in Chinese Charcot-Marie-Tooth disease.
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19305408 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18078129 Hypermethylation of pig7 promoter was identified in K562 and HL-60 cells, in contrast to non-methylation predominant in U937 cells. pig7 expression was markedly decreased in AL patients.
16912585 Observational study of genotype prevalence. (HuGE Navigator)
16872372 results suggest that the consensus sequence for hepatocyte nuclear factor-3alpha, or a nuclear binding protein to the CTCCC motif, may play an important role in regulating LPS-dependent LITAF transcription
16804395 LITAF has a role in the pathophysiological regulation of the TNF-alpha gene
16787513 The mutation Gly112Ser was found in two families confirming its frequent occurrence in SIMPLE mutations. Three novel mutations were also identified: Ala111Gly (two families), Pro135Ser, and Pro135Thr.
16373087 This study identified a LITAF/SIMPLE substitution (T49M), absent in 1000 control chromosomes, but which was thought to be a polymorphism in Charcot-Marie-Tooth neuropathy.
15776429 the potential E3 ubiquitin ligase activity of SIMPLE, alteration in its interactions with NEDD4 or TSG101, or changes in its properties as a clathrin coat adaptor may underlie the pathogenesis of Charcot-Marie-Tooth disease
15122712 The expression of SIMPLE is reported in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in Charcot-Marie-Tooth neuropathy type 1C.
14641644 New gene for CMT is located on chrosome 16.

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.
23795761 2013 LITAF, a BCL6 target gene, regulates autophagy in mature B-cell lymphomas.
23576546 2013 Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.
23166352 2012 Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking.
23166209 2012 Impact of ancestry and common genetic variants on QT interval in African Americans.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22765307 2013 Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.
22282245 2012 Reduction of insulin resistance in HepG2 cells by knockdown of LITAF expression in human THP-1 macrophages.
21896645 2011 Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.
21836606 2012 PIG7, transactivated by AML1, promotes apoptosis and differentiation of leukemia cells with AML1-ETO fusion gene.
21362361 2011 A new tumor necrosis factor (TNF)-? regulator, lipopolysaccharides-induced TNF-? factor, is associated with obesity and insulin resistance.
21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
21326863 2011 SIMPLE/LITAF expression induces the translocation of the ubiquitin ligase itch towards the lysosomal compartments.
21217782 2011 LITAF and TNFSF15, two downstream targets of AMPK, exert inhibitory effects on tumor growth.
20957525 2011 CIDE-3 interacts with lipopolysaccharide-induced tumor necrosis factor, and overexpression increases apoptosis in hepatocellular carcinoma.
20709679 2010 [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19305409 2009 Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
19305408 2009 Common variants at ten loci influence QT interval duration in the QTGEN Study.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
18078129 2007 [Expression of pig7 in acute leukemia and its clinical significance].
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16912585 2006 Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
16872372 2006 Cloning and characterization of lipopolysaccharide-induced tumor necrosis factor alpha factor promoter.
16804395 2006 A new transcription factor that regulates TNF-alpha gene expression, LITAF, is increased in intestinal tissues from patients with CD and UC.
16787513 2006 SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
16373087 2006 Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16118794 2005 SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.
15793005 2005 LPS induces the interaction of a transcription factor, LPS-induced TNF-alpha factor, and STAT6(B) with effects on multiple cytokines.
15786462 2005 Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
15776429 2005 SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15197774 2004 PIG7/LITAF gene mutation and overexpression of its gene product in extramammary Paget's disease.
15122712 2004 SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
15064722 2004 WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14641644 2003 New gene for CMT.
12761501 2003 Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways.
12525712 2003 Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11713717 2002 Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.
11274176 2001 Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1.
10200294 1999 A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment.
9305847 1997 A model for p53-induced apoptosis.