Property Summary

NCBI Gene PubMed Count 47
PubMed Score 125.58
PubTator Score 109.33

Knowledge Summary


No data available


  Disease (6)

Disease Target Count
Myoclonic Epilepsies, Progressive 12
Disease Target Count Z-score Confidence
Neurodegenerative disease 383 4.181 2.1
Disease Target Count Z-score Confidence
Dementia 129 4.991 2.5
Cerebrovascular disease 231 3.232 1.6


  Differential Expression (34)

Disease log2 FC p
malignant mesothelioma -1.500 6.6e-06
astrocytic glioma -3.600 1.1e-02
ependymoma -4.400 5.8e-03
oligodendroglioma -3.000 8.2e-15
psoriasis -1.100 4.6e-07
glioblastoma -4.400 3.8e-04
sonic hedgehog group medulloblastoma -5.100 2.0e-07
cystic fibrosis 1.045 7.1e-05
periodontitis 1.100 4.7e-23
atypical teratoid / rhabdoid tumor -2.600 1.9e-03
medulloblastoma, large-cell -5.400 3.9e-06
primitive neuroectodermal tumor -3.000 1.3e-03
Duchenne muscular dystrophy 1.031 2.6e-06
autosomal dominant Emery-Dreifuss muscul... 1.124 8.8e-03
juvenile dermatomyositis 1.139 3.4e-10
tuberculosis 1.300 8.8e-04
primary pancreatic ductal adenocarcinoma -1.532 1.9e-04
intraductal papillary-mucinous adenoma (... -3.600 8.7e-05
intraductal papillary-mucinous carcinoma... -3.500 5.9e-03
intraductal papillary-mucinous neoplasm ... -3.400 2.7e-03
lung cancer 5.400 9.6e-08
pancreatic cancer -1.600 3.3e-04
interstitial cystitis 1.300 1.1e-03
adult high grade glioma -4.100 1.6e-05
pilocytic astrocytoma -3.400 1.4e-09
aldosterone-producing adenoma -1.136 8.1e-03
subependymal giant cell astrocytoma -3.756 1.8e-02
severe Alzheimer's disease -1.562 4.0e-02
lung carcinoma 2.700 1.5e-28
Pick disease -2.300 6.4e-03
gastric carcinoma -1.700 2.9e-02
ulcerative colitis 1.400 1.3e-03
ovarian cancer 2.000 3.7e-04
pituitary cancer 1.200 1.1e-02

Gene RIF (34)

26367528 This C-terminal lability is not required for neuroserpin polymerisation in the endoplasmic reticulum, but the additional glycan facilitates degradation of the mutant protein during proteasomal impairment.
26329378 The thermal and chemical stability along with the polymerisation propensity of both Wild Type and Glu289Ala NS were characterized.
26176694 the protective effect of neuroserpin maybe independent from its canonical interaction with a tissue-type plasminogen activator
25670787 Neuroserpin is expressed in naive effector memory and central memory CD4 and CD8 T cell subsets, and monocytes, B cells, and NK cells. T-cell activation caused its translocation to the immunologic synapse, secretion, and delayed downregulation.
25450507 Molecular Dynamics simulations suggest that Neuroserpin conformational stability and flexibility arise from a spatial distribution of intramolecular salt-bridges and hydrogen bonds.
24036060 Alzheimer's disease brain tissues with elevated neuroserpin protein also showed increased expression of THRbeta1 and HuD
21961602 the origins of conformational lability
21569344 Neuroprotective properties of neuroserpin may be related to the inhibition of excitotoxicity, inflammation, as well as blood brain barrier disruption that occur after acute ischemic stroke.
21507957 Hrd1 and gp78 mediate mutant neuroserpin turnover through the ERAD pathway.
21487809 our study did not provide any evidence for an association between genetic variation at the SERPINI1 locus and ischemic stroke
21174006 high serum neuroserpin levels before intravenous tPA and neuroserpin levels decrease at 24 h after ischaemic stroke, independently of tPA treatment, may have a role in good functional outcome
21081089 The latent and polymer hNS forms obtained at 45 degrees C and 85 degrees C differ in their chemical and thermal stabilities; furthermore, the human neuroserpin polymers also differ in size and morphology
20691191 investigated the refolding and polymerization pathways of wild-type neuroserpin and of the pathogenic mutants S49P and H338R
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
19423713 intracellular neuroserpin polymers activate NF-kappaB by a pathway that is independent of the IRE1, ATF6, and PERK limbs of the canonical unfolded protein response but is dependent on intracellular calcium
19423540 Analyses restricted to glioblastoma (n = 254) yielded significant associations for the SELP, DEFB126/127, SERPINI1, and LY96 genetic regions.
19423540 Observational study of gene-disease association. (HuGE Navigator)
19265707 Human neuroserpin: structure and time-dependent inhibition
19222708 Neuroserpin and tissue plasminogen activator are associated with amyloid-beta plaques in Alzheimer brain tissue.
18591508 We report a neuroserpin mutation that causes electrical status epilepticus of slow-wave sleep.
18051703 conformational modification in the protein under oxidative stress
17961231 Observational study of gene-disease association. (HuGE Navigator)
17961231 This study provides the first evidence that neuroserpin is associated with early-onset ischemic stroke among Caucasian women.
17606885 in a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome
17212813 intergenic region of the head-to-head PDCD10-SERPINI1 gene pair provides an interesting and informative example of a complex regulatory system
16849336 neuroserpin interacts with Abeta(1-42) to form off-pathway non-toxic oligomers and so protects neurons in Alzheimer disease
15664988 Data show that the S49P mutant of neuroserpin that causes the dementia familial encephalopathy with neuroserpin inclusion bodies (FENIB) forms a latent species in vitro and in vivo in addition to the formation of polymers.
15291813 reactive centre loop of neuroserpin Portland being partially inserted into beta-sheet A to adopt a conformation similar to an intermediate on the polymerization pathway
15269833 tissue plasminogen activator and neuroserpin are widely expressed in the human central nervous system
15090543 neuroserpin mutants that cause dementia accumulate as polymers within the endoplasmic reticulum
14983220 Neuroserpin has a role as a selective inhibitor of tissue-type plasminogen activator in the central nervous system [review]
12228252 The interactions between NSP and t-PA were distinct from those between plasmin and NSP, suggesting that the physiologic effect of t-PA-NSP interactions may be more complex than previously thought.
11880376 Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro

AA Sequence


Text Mined References (49)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26367528 2015 Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum.
26329378 2015 The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop.
26176694 2015 Retina Is Protected by Neuroserpin from Ischemic/Reperfusion-Induced Injury Independent of Tissue-Type Plasminogen Activator.
25670787 2015 Human T cell activation induces synaptic translocation and alters expression of the serine protease inhibitor neuroserpin and its target protease.
25450507 2015 Functional and dysfunctional conformers of human neuroserpin characterized by optical spectroscopies and Molecular Dynamics.
24172014 2013 Update of the human and mouse SERPIN gene superfamily.
24036060 2013 Neuroserpin up-regulation in the Alzheimer's disease brain is associated with elevated thyroid hormone receptor-?1 and HuD expression.
23534349 2013 Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21961602 2011 Local conformational flexibility provides a basis for facile polymer formation in human neuroserpin.
21569344 2011 Association between neuroserpin and molecular markers of brain damage in patients with acute ischemic stroke.
21507957 2011 The endoplasmic reticulum (ER)-associated degradation system regulates aggregation and degradation of mutant neuroserpin.
21487809 2011 No evidence for an association between genetic variation at the SERPINI1 locus and ischemic stroke.
21174006 2011 The natural tissue plasminogen activator inhibitor neuroserpin and acute ischaemic stroke outcome.
21081089 2010 Two latent and two hyperstable polymeric forms of human neuroserpin.
20691191 2010 Refolding and polymerization pathways of neuroserpin.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
19423713 2009 Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19265707 2009 Human neuroserpin: structure and time-dependent inhibition.
19222708 2009 Plasminogen activator activity is inhibited while neuroserpin is up-regulated in the Alzheimer disease brain.
18591508 2008 Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep.
18391951 2008 Many sequence variants affecting diversity of adult human height.
18051703 2007 A study of the oxidation-induced conformational and functional changes in neuroserpin.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17961231 2007 Neuroserpin polymorphisms and stroke risk in a biracial population: the stroke prevention in young women study.
17606885 2007 Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.
17212813 2007 Two non-homologous brain diseases-related genes, SERPINI1 and PDCD10, are tightly linked by an asymmetric bidirectional promoter in an evolutionarily conserved manner.
16849336 2006 Neuroserpin binds Abeta and is a neuroprotective component of amyloid plaques in Alzheimer disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15664988 2005 Latent S49P neuroserpin forms polymers in the dementia familial encephalopathy with neuroserpin inclusion bodies.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15291813 2004 Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB.
15269833 2004 Tissue plasminogen activator and neuroserpin are widely expressed in the human central nervous system.
15090543 2004 Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum.
14983220 2004 Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12354288 2002 Neuroserpin regulates neurite outgrowth in nerve growth factor-treated PC12 cells.
12228252 2002 Acyl-enzyme complexes between tissue-type plasminogen activator and neuroserpin are short-lived in vitro.
12103288 2002 Association between conformational mutations in neuroserpin and onset and severity of dementia.
10992299 2000 Tissue-specific cancer-related serpin gene cluster at human chromosome band 3q26.
10517635 1999 Familial dementia caused by polymerization of mutant neuroserpin.
9407089 1997 Neuroserpin, a brain-associated inhibitor of tissue plasminogen activator is localized primarily in neurons. Implications for the regulation of motor learning and neuronal survival.
9070919 1997 Human neuroserpin (PI12): cDNA cloning and chromosomal localization to 3q26.