| Tbio | Neuroserpin |
Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin. May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator.
This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count |
|---|---|
| Myoclonic Epilepsies, Progressive | 12 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neurodegenerative disease | 383 | 4.181 | 2.1 |
| Disease | Target Count |
|---|---|
| Familial encephalopathy with neuroserpin inclusion bodies | 8 |
| progressive myoclonus epilepsy | 11 |
| Disease | Target Count |
|---|---|
| Encephalopathy, familial, with neuroserpin inclusion bodies | 1 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Chicken | OMA EggNOG Inparanoid |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 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 |
| More... |
MAFLGLFSLLVLQSMATGATFPEEAIADLSVNMYNRLRATGEDENILFSPLSIALAMGMMELGAQGSTQK 1 - 70 EIRHSMGYDSLKNGEEFSFLKEFSNMVTAKESQYVMKIANSLFVQNGFHVNEEFLQMMKKYFNAAVNHVD 71 - 140 FSQNVAVANYINKWVENNTNNLVKDLVSPRDFDAATYLALINAVYFKGNWKSQFRPENTRTFSFTKDDES 141 - 210 EVQIPMMYQQGEFYYGEFSDGSNEAGGIYQVLEIPYEGDEISMMLVLSRQEVPLATLEPLVKAQLVEEWA 211 - 280 NSVKKQKVEVYLPRFTVEQEIDLKDVLKALGITEIFIKDANLTGLSDNKEIFLSKAIHKSFLEVNEEGSE 281 - 350 AAAVSGMIAISRMAVLYPQVIVDHPFFFLIRNRRTGTILFMGRVMHPETMNTSGHDFEEL 351 - 410 //
| 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. |
| More... |
