Identity
HGNC
LOCATION
3q26.1
LOCUSID
ALIAS
HNS-S1,HNS-S2,PI12,neuroserpin
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5274
MIM: 602445
HGNC: 8943
Ensembl: ENSG00000163536
Variants:
dbSNP: 5274
ClinVar: 5274
TCGA: ENSG00000163536
COSMIC: SERPINI1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36417830 | 2022 | Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review. | 1 |
| 36417830 | 2022 | Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review. | 1 |
| 33516851 | 2021 | Contrasting conformational dynamics of β-sheet A and helix F with implications in neuroserpin inhibition and aggregation. | 1 |
| 33893722 | 2021 | Detection of truncated isoforms of human neuroserpin lacking the reactive center loop: Implications in noninhibitory role. | 0 |
| 33516851 | 2021 | Contrasting conformational dynamics of β-sheet A and helix F with implications in neuroserpin inhibition and aggregation. | 1 |
| 33893722 | 2021 | Detection of truncated isoforms of human neuroserpin lacking the reactive center loop: Implications in noninhibitory role. | 0 |
| 31805346 | 2020 | Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin. | 7 |
| 32003693 | 2020 | Neuroserpin in Bipolar Disorder. | 2 |
| 31805346 | 2020 | Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin. | 7 |
| 32003693 | 2020 | Neuroserpin in Bipolar Disorder. | 2 |
| 30644551 | 2019 | Neuroserpin expression during human brain development and in adult brain revealed by immunohistochemistry and single cell RNA sequencing. | 13 |
| 30644551 | 2019 | Neuroserpin expression during human brain development and in adult brain revealed by immunohistochemistry and single cell RNA sequencing. | 13 |
| 28631894 | 2017 | SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy. | 3 |
| 28631894 | 2017 | SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy. | 3 |
| 26892864 | 2016 | SERPINI1 regulates epithelial-mesenchymal transition in an orthotopic implantation model of colorectal cancer. | 25 |
Citation
Dessen P
SERPINI1 (serpin family I member 1)
Atlas Genet Cytogenet Oncol Haematol. 2015-06-01
Online version: http://atlasgeneticsoncology.org/gene/55287/serpini1-(serpin-family-i-member-1)
