Property Summary

NCBI Gene PubMed Count 81
PubMed Score 168.24
PubTator Score 95.34

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
gastric cancer 1.100 1.4e-03
astrocytic glioma -1.200 4.6e-02
psoriasis -1.500 6.1e-05
atypical teratoid / rhabdoid tumor -1.500 6.0e-08
glioblastoma -1.400 3.4e-03
medulloblastoma, large-cell -1.500 1.3e-05
cystic fibrosis -1.200 1.4e-04
pediatric high grade glioma -1.200 4.1e-04
invasive ductal carcinoma -1.200 8.3e-04
ovarian cancer 1.800 4.8e-05

Gene RIF (53)

PMID Text
26812496 The VAPB and its interacting partners cooperatively regulate protein trafficking through the ERGIC by modulating PtdIns4P levels.
26784321 Study characterizes the human VAPB-HCV NS5B interaction and reveals that NS5B C-linker is intrinsically disordered in solution but capable of binding the human VAPB-MSP domain which overlaps with those for binding HCV NS5A and human Eph receptors.
26740627 VAPB inhibited the degradation of DeltaF508-CFTR in the ER through interactions with the RMA1-Derlin-BAP31-VCP pathway.
26490117 Our work revealed that VAP-A/B knockdown impaired the processing and secretion of PAUF, which is one of the cargo proteins of carriers of the trans-Golgi network to the cell surface.
26362257 Heterozygous P56S Vapb knock-in mice show mild age-dependent defects in motor behaviors as characteristic features of the disease. The homozygous P56S Vapb knock-in mice show more severe defects compared with heterozygous mice reflecting the dominant and dose-dependent effects of P56S mutation.
25826266 Collectively, these results not only lead to a better understanding of hVAPB function but also point to potentially relevant targets for therapeutic intervention.
25824044 P56S-VAPB was found to suppress adipocyte differentiation by promoting the activation of the ATF4-CHOP pathway
25612670 results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 GTPase activating protein 1(RAB3GAP1) is implicated in the regulation of nuclear envelope formation through ER-Golgi intermediate compartment
24885147 The repertoire of VAPB interactors is more diverse than previously anticipated and link VAPB to the function of ATPase complexes such as p97/FAF1 and ASNA1/transmembrane-domain recognition complex.
24212516 genetic screening for this mutation should be performed in all adult patients with lower motor neuron disease, regardless of family history because of the rarity of this disease, physicians often do not suspect it, and many cases may be missed in Brazil.
23971766 In patients with familial or sporadic amyotrophic lateral sclerosis (ALS) from Portugal, Iceland and Sweden no association is found with disease and VAMP-associated protein type B (VAPB) mutations.
23771029 Findings provide new pathophysiological mechanisms of P56S VAPB that differentially affect the function and survival of corticospinal and spinal motor neurons in familial amyotrophic lateral sclerosis 8.
23446633 Partial or complete loss of VAPB function leads to motor deficit but is unable to trigger a full-blown amyotrophic lateral sclerosis phenotype.
23333387 this discovery provides a mechanism for ALS-causing VAPB mutants/variants to gain novel functions such as to mediate ER structure before significant accumulation of aggregates occurs.
23281774 These results suggest that changes in wild type VAPB do not play a significant role in amyotrophic lateral sclerosis cases that are not caused by VAPB mutations
23049696 VAPB promotes breast tumor growth by modulation of Akt activity.
22878164 This study screened a cohort of 755 sporadic ALS patients, 111 familial ALS patients (97 families), and 765 control subjects of Dutch descent for mutations in vesicle-associated membrane protein B (VAPB).
22815741 structual basis of VAPC binding to HCV NS5B
22720086 The binding residues have been successfully mapped out on both NS5A and VAPB, thus allowing the construct of the complex structure.
22611258 Transfection of a dominant-negative form of the AAA ATPase p97/VCP stabilizes mutant VAPB, suggesting a role for this ATPase in extracting the aggregated protein from the inclusions.
22454507 The mutation in VAPB that causes amyotrophic lateral sclerosis also causes the block of transport of nucleoporins and emerin to the nuclear envelope.
22258555 ALS mutant VAPBP56S perturbs anterograde mitochondrial axonal transport by disrupting Ca(2+) homeostasis and effecting the Miro1/kinesin-1 interaction with tubulin.
22131369 Loss of either VAPB or PTPIP51 perturbs uptake of Calcium by mitochondria and results in amyotrophic lateral sclerosis.
22069488 T46I mutant of the hVAPB MSP domain is associated with amyotrophic lateral sclerosis.
21998752 endoplasmic reticulum stress and corruption of the proteasome function might contribute to the aberrant protein homeostasis associated with hVAPB
21685205 VAPB protein levels are reduced in motor neurons derived form induced pluripotent stem cells of amyotrophic lateral sclerosis patients.
21144830 three conserved prolines in VAPA and Scs2p confers less vulnerability to mutations equivalent to the amyotrophic lateral sclerosis causing mutation as compared with VAPB, which has only two conserved prolines.
20940299 newly identified mutation in human FALS has a pathogenic effect, supporting and reinforcing the role of VAPB as a causative gene of ALS.
20577002 Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis.
20577002 Observational study of gene-disease association. (HuGE Navigator)
20477942 Adeno-associated viral-mediated over-expression of both wild-type and mutated form of human VAPB selectively induces death of primary mouse motor neurons, albeit with different kinetics.
20472325 Observational study of gene-disease association. (HuGE Navigator)
20447143 study reports the first identification of the p.P56S mutation in the VAPB gene in a non-Brazilian patient
20377183 Pro56Ser mutation of VAPB lead to amyotrophic lateral sclerosis by eliminating the native protein structure.
20227395 under conditions of proteasomal inhibition, as encountered in many neurodegenerative diseases including ALS, variant VAPB proteins might accumulate in affected cells and contribute to ALS pathogenesis.
20207736 the mechanism by which VAP-B(P56S) aggregates are formed and induce familial motor neuron diseases
20008544 these results demonstrate that the amyotrophic lateral sclerosis -linked VAPB mutant causes dramatic ER restructuring that may underlie its pathogenicity in motoneurons.
19515777 Overexpression of VAP-C impaired the RNA replication of the HCV replicon, whereas overexpression of VAP-A and VAP-B enhanced the replication.
19165527 Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia
18713837 Data show that overexpression of VAPA and VAPB causes retention of ER membrane proteins by impeding lateral diffusion and their incorporation into transport vesicles.
18701194 VAPB mRNA levels were decreased in the spinal cord of ALS patients compared to controls and Expression of VAPB mRNA and protein was predominantly localised to large motor neurones.
18677189 These findings are indistinguishable from those of other motor neuron disorders, although the predominant involvement of the proximal limbs and of the abdominal muscles may be of some help in the appropriate clinical setting.
18555774 Study shows that the MSP domains of VAP protein, VAPB are cleaved and secreted ligands for Eph receptors
18322265 Mutations in the VAPB gene are rare and the Delta S160 variant does not contribute to the development of amyotrophic lateral sclerosis.
17947296 DVAP-33A and hVAPB are functionally interchangeable and transgenic expression of mutant DVAP-33A in neurons recapitulates major hallmarks of the human diseases including locomotion defects, neuronal death and aggregate formation.
17804640 VAPB is abundant in motor neurons and the P56S substitution causes aggregation of mutant VAPB in immobile tubular ER clusters, perturbs FFAT-motif binding, and traps endogenous VAP in mutant aggregates, which may cause motor neuron degeneration.
17540579 P56S mutation in VAP-B may lead to a less stable interaction of this endoplasmic reticulum protein with at least two other proteins: tubulin and GAPDH.
17536055 it is suggested that VAPB mutations do not significantly contribute to the genetic causes of sporadic amyotrophic lateral sclerosis in the UK and Northern Europe
16891305 Overexpression of wild type VAPB promotes unfolded protein response, which is a reaction of the endoplasmic reticulum to suppress accumulation of misfolded proteins.
16729899 Observational study of gene-disease association. (HuGE Navigator)
16729899 Frequency of the detected exon variation in the VAPB gene was not significantly different between patients and controls. VAPB mutations are not a common cause of adult-onset sporadic amyotrophic lateral sclerosis.
16571669 Regulation of ceramide transport protein by oxyste rbinding proteins, sterols, and VAMP reveals a novel mechanism for integrating sterol regulatory signals with ceramide transport and sphingomyelin synthesis in the Golgi apparatus.
15545272 evidence that Nir (Nir1, Nir2, and Nir3)-VAP-B interactions are mediated through the conserved FFAT (two phenylalanines (FF) in acidic tract) motif present in Nir proteins

AA Sequence

MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPRRYCVRPNSGIIDAGASINVS      1 - 70
VMLQPFDYDPNEKSKHKFMVQSMFAPTDTSDMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHDVEINKI     71 - 140
ISTTASKTETPIVSKSLSSSLDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRKTVQSNSPISA    141 - 210
LAPTGKEEGLSTRLLALVVLFFIVGVIIGKIAL                                         211 - 243
//

Text Mined References (90)

PMID Year Title
26812496 2016 Oxysterol-binding protein ORP3 rescues the Amyotrophic Lateral Sclerosis-linked mutant VAPB phenotype.
26784321 2016 C-Terminal Auto-Regulatory Motif of Hepatitis C Virus NS5B Interacts with Human VAPB-MSP to Form a Dynamic Replication Complex.
26740627 2016 VAMP-associated Proteins (VAP) as Receptors That Couple Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Proteostasis with Lipid Homeostasis.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26490117 2015 CARTS biogenesis requires VAP-lipid transfer protein complexes functioning at the endoplasmic reticulum-Golgi interface.
26362257 2015 Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25826266 2015 Network analyses reveal novel aspects of ALS pathogenesis.
25824044 2015 ALS-associated P56S-VAPB mutation restrains 3T3-L1 preadipocyte differentiation.
25616068 2015 A combined proteomics/genomics approach links hepatitis C virus infection with nonsense-mediated mRNA decay.
25612670 2014 VAP-B binds to Rab3GAP1 at the ER: its implication in nuclear envelope formation through the ER-Golgi intermediate compartment.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
24885147 2014 VAPB/ALS8 interacts with FFAT-like proteins including the p97 cofactor FAF1 and the ASNA1 ATPase.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24212516 2013 Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil.
23971766 2013 No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland.
23771029 2013 Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.
23736259 2013 The ALS8 protein VAPB interacts with the ER-Golgi recycling protein YIF1A and regulates membrane delivery into dendrites.
23446633 2013 Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
23333387 2013 ALS-causing P56S mutation and splicing variation on the hVAPB MSP domain transform its ?-sandwich fold into lipid-interacting helical conformations.
23281774 2013 Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23049696 2012 VAMP-associated protein B (VAPB) promotes breast tumor growth by modulation of Akt activity.
22878164 2012 VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
22815741 2012 VAPC, an human endogenous inhibitor for hepatitis C virus (HCV) infection, is intrinsically unstructured but forms a "fuzzy complex" with HCV NS5B.
22720086 2012 Intrinsically unstructured domain 3 of hepatitis C Virus NS5A forms a "fuzzy complex" with VAPB-MSP domain which carries ALS-causing mutations.
22611258 2012 Restructured endoplasmic reticulum generated by mutant amyotrophic lateral sclerosis-linked VAPB is cleared by the proteasome.
22454507 2012 A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.
22258555 2012 Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria.
22131369 2012 VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis.
22069488 2011 Structural, stability, dynamic and binding properties of the ALS-causing T46I mutant of the hVAPB MSP domain as revealed by NMR and MD simulations.
21998752 2011 Accumulation of wildtype and ALS-linked mutated VAPB impairs activity of the proteasome.
21976701 2011 Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation.
21685205 2011 Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21144830 2011 Human VAPA and the yeast VAP Scs2p with an altered proline distribution can phenocopy amyotrophic lateral sclerosis-associated VAPB(P56S).
20940299 2010 Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.
20577002 2010 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
20477942 2010 AAV-mediated expression of wild-type and ALS-linked mutant VAPB selectively triggers death of motoneurons through a Ca2+-dependent ER-associated pathway.
20472325 2011 FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.
20447143 2010 The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case.
20377183 2010 Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis.
20227395 2010 Novel splice variants of the amyotrophic lateral sclerosis-associated gene VAPB expressed in human tissues.
20207736 2010 Structural requirements for VAP-B oligomerization and their implication in amyotrophic lateral sclerosis-associated VAP-B(P56S) neurotoxicity.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20008544 2010 A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum.
19515777 2009 Human VAP-C negatively regulates hepatitis C virus propagation.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19289470 2009 Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein.
19165527 2009 Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
18713837 2008 FFAT rescues VAPA-mediated inhibition of ER-to-Golgi transport and VAPB-mediated ER aggregation.
18701194 2010 Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18677189 2008 Neurophysiological findings of the late-onset, dominant, proximal spinal muscular atrophies with dysautonomia because of the VAPB PRO56SER mutation.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18555774 2008 The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors.
18322265 2008 New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.
18165232 2008 Protein phosphatase 2Cepsilon is an endoplasmic reticulum integral membrane protein that dephosphorylates the ceramide transport protein CERT to enhance its association with organelle membranes.
18160438 2008 Human butyrate-induced transcript 1 interacts with hepatitis C virus NS5A and regulates viral replication.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17947296 2008 hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction.
17804640 2007 Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.
17540579 2007 A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins.
17536055 2007 Mutations in VAPB are not associated with sporadic ALS.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16895911 2006 Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT.
16891305 2006 Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).
16729899 2006 Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
16571669 2006 Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16227268 2005 Human VAP-B is involved in hepatitis C virus replication through interaction with NS5A and NS5B.
15545272 2005 Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372378 2004 A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
15060112 2004 A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12130530 2002 Vesicle-associated membrane protein 3 (VAMP-3) and VAMP-8 are present in human platelets and are required for granule secretion.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
10931946 2000 Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.
10820264 2000 Soluble NSF attachment protein receptors (SNAREs) in RBL-2H3 mast cells: functional role of syntaxin 4 in exocytosis and identification of a vesicle-associated membrane protein 8-containing secretory compartment.
10657150 1999 Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13.
9920726 1999 Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.