PEX14 Gene Summary [Human]
This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | PEX14 |
| Official Name | peroxisomal biogenesis factor 14 [Source:HGNC Symbol;Acc:HGNC:8856] |
| Ensembl ID | ENSG00000142655 |
| Bio databases IDs | |
| Aliases | peroxisomal biogenesis factor 14 |
| Synonyms | dJ734G22.2, NAPP2, PBD13A, peroxisomal biogenesis factor 14, Pex14p |
| 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 PEX14 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein carrier
- beta-tubulin binding
- transcription regulator
- transcription co-repressor
- protein binding activity, bridging
- coiled-coil domain
- protein binding
- receptor binding
- Pex5 binding domain
- identical protein binding
- Pex14 N-terminal domain
- microtubule binding
- transmembrane domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- asthma
- epithelial cancer
- peroxisome biogenesis disorder 13a (zellweger)
- male pattern hair loss
- peroxisome biogenesis disorder complementation group K
- breast carcinoma
- prostate cancer
- estrogen receptor-negative breast cancer
- prostatic carcinoma
- alopecia
role in cell
- expression in
- branching
- organization
- response by
- branching in
- upregulation in
- anchoring
- import
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
- membrane fraction
- fibrillar center
- cellular membrane
- Mitochondria
- cytosol
- peroxisome membrane
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEX14 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
- peroxisome transport along microtubule
- microtubule anchoring
- negative regulation of transcription, DNA-dependent
- macromolecular complex assembly
- peroxisome organization
- protein import into peroxisome matrix, docking
- protein import into peroxisome matrix, translocation
- negative regulation of sequence-specific DNA binding transcription factor activity
- cellular response to reactive oxygen species
- negative regulation of protein binding
Cellular Component
Where in the cell the gene product is active
- peroxisomal membrane
- nucleus
- peroxisome
- membrane
- cytosol
- macromolecular complex
- fibrillar center
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- protein transmembrane transporter activity
- transcription corepressor activity
- beta-tubulin binding
- receptor binding
- protein binding, bridging
- microtubule binding