Gene
pex1
- ID
- ZDB-GENE-070530-1
- Name
- peroxisomal biogenesis factor 1
- Symbol
- pex1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have ATPase activity. Predicted to be involved in protein import into peroxisome matrix. Predicted to localize to cytosol and peroxisomal membrane. Human ortholog(s) of this gene implicated in Heimler syndrome 1; infantile Refsum disease; and peroxisome biogenesis disorder 1A. Orthologous to human PEX1 (peroxisomal biogenesis factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| Heimler syndrome 1 | Alliance | Heimler syndrome 1 | 234580 |
| peroxisome biogenesis disorder 1A | Alliance | Peroxisome biogenesis disorder 1A (Zellweger) | 214100 |
| peroxisome biogenesis disorder 1B | Alliance | Peroxisome biogenesis disorder 1B (NALD/IRD) | 601539 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR003960 | ATPase, AAA-type, conserved site |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR003959 | ATPase, AAA-type, core |
| Domain | IPR015342 | Peroxisomal ATPase PEX1, N-terminal C-lobe |
| Domain | IPR015343 | Peroxisomal ATPase PEX1, N-terminal N-lobe |
| Domain | IPR041569 | AAA ATPase, AAA+ lid domain |
| Homologous_superfamily | IPR009010 | Aspartate decarboxylase-like domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR029067 | CDC48 domain 2-like superfamily |
Domain Details Per Protein
| Protein | Length | AAA ATPase, AAA+ lid domain | AAA+ ATPase domain | Aspartate decarboxylase-like domain superfamily | ATPase, AAA-type, conserved site | ATPase, AAA-type, core | CDC48 domain 2-like superfamily | Peroxisomal ATPase PEX1, N-terminal C-lobe | Peroxisomal ATPase PEX1, N-terminal N-lobe | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:D2CK11
|
1237 |
Interactions and Pathways
No data available
Plasmids
No data available