Gene
serpini1
- ID
- ZDB-GENE-060503-390
- Name
- serpin peptidase inhibitor, clade I (neuroserpin), member 1
- Symbol
- serpini1 Nomenclature History
- Previous Names
-
- si:ch211-167c22.4 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in familial encephalopathy with neuroserpin inclusion bodies. Is expressed in hypothalamus; lapillus; midbrain; otolith; and telencephalon. Orthologous to human SERPINI1 (serpin family I member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial encephalopathy with neuroserpin inclusion bodies | Alliance | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023795 | Serpin, conserved site |
| Domain | IPR023796 | Serpin domain |
| Family | IPR000215 | Serpin family |
| Homologous_superfamily | IPR036186 | Serpin superfamily |
| Homologous_superfamily | IPR042178 | Serpin superfamily, domain 1 |
| Homologous_superfamily | IPR042185 | Serpin superfamily, domain 2 |
Domain Details Per Protein
| Protein | Length | Serpin, conserved site | Serpin domain | Serpin family | Serpin superfamily | Serpin superfamily, domain 1 | Serpin superfamily, domain 2 |
|---|---|---|---|---|---|---|---|
|
UniProtKB:B3DJI9
|
415 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available