Gene
appa
- ID
- ZDB-GENE-000616-13
- Name
- amyloid beta (A4) precursor protein a
- Symbol
- appa Nomenclature History
- Previous Names
-
- app
- im:7044540
- wu:fj08a12
- wu:fj34d10
- wu:fk65e12 (1)
- zgc:85740
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have heparin binding activity; serine-type endopeptidase inhibitor activity; and transition metal ion binding activity. Involved in central nervous system development; convergent extension; and vasculature development. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in APP-related cerebral amyloid angiopathy; Alzheimer's disease; Alzheimer's disease 1; cognitive disorder; and visual epilepsy. Is expressed in several structures, including female organism; heart; male organism; nervous system; and pleuroperitoneal region. Orthologous to human APP (amyloid beta precursor protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85740 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Alzheimer's disease 1 | Alliance | Alzheimer disease 1, familial | 104300 |
| APP-related cerebral amyloid angiopathy | Alliance | Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants | 605714 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019744 | Amyloidogenic glycoprotein, copper-binding domain conserved site |
| Conserved_site | IPR019745 | Amyloidogenic glycoprotein, intracellular domain, conserved site |
| Conserved_site | IPR020901 | Proteinase inhibitor I2, Kunitz, conserved site |
| Domain | IPR002223 | Pancreatic trypsin inhibitor Kunitz domain |
| Domain | IPR008154 | Amyloidogenic glycoprotein, extracellular |
| Domain | IPR011178 | Amyloidogenic glycoprotein, copper-binding |
| Domain | IPR013803 | Amyloidogenic glycoprotein, amyloid-beta peptide |
| Domain | IPR015849 | Amyloidogenic glycoprotein, heparin-binding |
| Domain | IPR019543 | Beta-amyloid precursor protein C-terminal |
| Domain | IPR024329 | Amyloidogenic glycoprotein, E2 domain |
| Family | IPR008155 | Amyloidogenic glycoprotein |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR036176 | E2 domain superfamily |
| Homologous_superfamily | IPR036454 | Amyloidogenic glycoprotein, heparin-binding domain superfamily |
| Homologous_superfamily | IPR036669 | Amyloidogenic glycoprotein, copper-binding domain superfamily |
| Homologous_superfamily | IPR036880 | Pancreatic trypsin inhibitor Kunitz domain superfamily |
Domain Details Per Protein
| Protein | Length | Amyloidogenic glycoprotein | Amyloidogenic glycoprotein, amyloid-beta peptide | Amyloidogenic glycoprotein, copper-binding | Amyloidogenic glycoprotein, copper-binding domain conserved site | Amyloidogenic glycoprotein, copper-binding domain superfamily | Amyloidogenic glycoprotein, E2 domain | Amyloidogenic glycoprotein, extracellular | Amyloidogenic glycoprotein, heparin-binding | Amyloidogenic glycoprotein, heparin-binding domain superfamily | Amyloidogenic glycoprotein, intracellular domain, conserved site | Beta-amyloid precursor protein C-terminal | E2 domain superfamily | Pancreatic trypsin inhibitor Kunitz domain | Pancreatic trypsin inhibitor Kunitz domain superfamily | PH-like domain superfamily | Proteinase inhibitor I2, Kunitz, conserved site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6NUZ1
|
738 |
Interactions and Pathways
No data available
Plasmids