Gene
serpina1
- ID
- ZDB-GENE-030131-1421
- Name
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
- Symbol
- serpina1 Nomenclature History
- Previous Names
-
- wu:fb61c07
- wu:fb71a09
- zgc:153807
- zgc:158145
- Type
- protein_coding_gene
- Location
- Chr: 20 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 several diseases, including alpha 1-antitrypsin deficiency; chronic obstructive pulmonary disease (multiple); human immunodeficiency virus infectious disease; inflammatory bowel disease (multiple); and liver disease (multiple). Is expressed in blood and lapillus. Orthologous to human SERPINA1 (serpin family A member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 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 |
|---|---|---|---|
| alpha 1-antitrypsin deficiency | Alliance | Emphysema due to AAT deficiency | 613490 |
| alpha 1-antitrypsin deficiency | Alliance | Emphysema-cirrhosis, due to AAT deficiency | 613490 |
| alpha 1-antitrypsin deficiency | Alliance | Hemorrhagic diathesis due to antithrombin Pittsburgh | 613490 |
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:A0A8M6YU45
|
433 | ||||||
|
UniProtKB:Q5SPJ4
|
429 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
serpina1-201
(1)
|
Ensembl | 1,650 nt | ||
| mRNA |
serpina1-202
(1)
|
Ensembl | 1,392 nt |
Interactions and Pathways
No data available
Plasmids
No data available