PEX1 Gene Summary [Human]
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
Details
| Type | Protein Coding |
| Official Symbol | PEX1 |
| Official Name | peroxisomal biogenesis factor 1 [Source:HGNC Symbol;Acc:HGNC:8850] |
| Ensembl ID | ENSG00000127980 |
| Bio databases IDs | |
| Aliases | peroxisomal biogenesis factor 1 |
| Synonyms | 5430414H02Rik, E330005K07RIK, HMLR1, PBD1A, PBD1B, peroxisomal biogenesis factor 1, Peroxisome biogenesis factor 1, Pex1p, RGD1559939, ZWS, ZWS1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PEX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- AAA ATPase domain
- protein binding activity, bridging
- ATP binding
- enzyme
- protein binding
- ATPase
- AAA domain (dynein-related subfamily)
- Peroxisome biogenesis factor 1, N-terminal
- ATPase family associated with various cellular activities (AAA)
- binding protein
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Zellweger peroxisome biogenesis disorder 1A
- Zellweger syndrome
- infantile refsum disease
- Heimler syndrome type 1
- hereditary disorder
- peroxisome biogenesis disorder complementation group 1
- optic atrophy
- retinal dystrophy
- peroxisome biogenesis disorder
regulated by
- tretinoin
- Influenza A virus (A/Japan/305/57(H2N2))
- STAT3
- GABA
role in cell
- binding in
- formation
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
- peroxisome membrane
- peroxisomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein import into peroxisome matrix
- protein targeting to peroxisome
- microtubule-based peroxisome localization
- peroxisome organization
- protein import into peroxisome matrix, receptor recycling
- protein unfolding
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding