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 enable serine-type endopeptidase inhibitor activity. Predicted to be active in extracellular space. Is expressed in blood and lapillus. Human ortholog(s) of this gene implicated in several diseases, including alpha 1-antitrypsin deficiency; artery disease (multiple); chronic obstructive pulmonary disease (multiple); inflammatory bowel disease (multiple); and liver disease (multiple). Orthologous to several human genes including 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 | Additional Resources | Length | Serpin, conserved site | Serpin domain | Serpin family | Serpin superfamily | Serpin superfamily, domain 1 | Serpin superfamily, domain 2 |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6YU45 | InterPro | 433 | ||||||
| UniProtKB:Q5SPJ4 | InterPro | 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