PGAP1 Gene Summary [Human]
The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | PGAP1 |
| Official Name | post-GPI attachment to proteins inositol deacylase 1 [Source:HGNC Symbol;Acc:HGNC:25712] |
| Ensembl ID | ENSG00000197121 |
| Bio databases IDs | |
| Aliases | post-GPI attachment to proteins inositol deacylase 1, GPI inositol-deacylase |
| Synonyms | 5033403E17Rik, 9030223K07Rik, A530084K22, Bst1, D230012E17RIK, ISPD3024, MRT42, NEDDSBA, oto, post-GPI attachment to proteins 1, post-GPI attachment to proteins inositol deacylase 1, SPG67 |
| 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 PGAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alpha/beta hydrolase fold
- alpha/beta hydrolases
- phosphatidylinositol deacylase
- enzyme
- ester bond hydrolase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- diabetes mellitus
- autosomal recessive mental retardation type 42
- small cell lung cancer
- hereditary disorder
- osteoarthritis
- systemic autoimmune syndrome
- growth failure
- otocephaly
- pemphigus foliaceus
role in cell
- apoptosis
- G1 phase
- S phase
- secretion 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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PGAP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- GPI anchor metabolic process
- anterior/posterior axis specification
- ER to Golgi vesicle-mediated transport
- embryonic pattern specification
- protein transport
- attachment of GPI anchor to protein
- forebrain regionalization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- hydrolase activity, acting on ester bonds
- phosphatidylinositol deacylase activity