PEX6 Gene Summary [Human]
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | PEX6 |
| Official Name | peroxisomal biogenesis factor 6 [Source:HGNC Symbol;Acc:HGNC:8859] |
| Ensembl ID | ENSG00000124587 |
| Bio databases IDs | |
| Aliases | peroxisomal biogenesis factor 6 |
| Synonyms | AI132582, D130055I09Rik, HMLR2, LOC100911599, PAF-2, PBD4A, PDB4B, Peroxin-6, peroxisomal biogenesis factor 6, Pex6p, PXAAA1 |
| 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 PEX6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vps4 C terminal oligomerization domain
- ATP binding
- protein binding activity, bridging
- enzyme
- protein binding
- NACHT domain
- ATPase
- AAA domain (dynein-related subfamily)
- ATPase family associated with various cellular activities (AAA)
- binding protein
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- ATPases associated with a variety of cellular activities
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infantile refsum disease
- peroxisome biogenesis disorder 4B
- heimler syndrome type 2
- peroxisome biogenesis disorder 4a (zellweger)
- Alzheimer disease
- Zellweger syndrome
- peroxisome biogenesis disorder
- hereditary disorder
- autosomal recessive nonsyndromic mental retardation
- Zellweger peroxisome biogenesis disorder 1A
role in cell
- formation
- organization
- binding in
- formation in
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
- non-motile cilium
- cytosol
- peroxisome membrane
- neurites
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEX6 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
- peroxisome organization
- protein import into peroxisome matrix, translocation
- protein import into peroxisome matrix, receptor recycling
- protein stabilization
- protein unfolding
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- peroxisome
- cytoplasm
- cytosol
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding