Pgap1 Gene Summary [Mouse]
Predicted to enable phosphatidylinositol deacylase activity. Acts upstream of or within embryonic pattern specification; regionalization; and sensory perception of sound. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including brain; genitourinary system; and neural ectoderm. Used to study holoprosencephaly. Orthologous to human PGAP1 (post-GPI attachment to proteins inositol deacylase 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pgap1 |
| Official Name | post-GPI attachment to proteins 1 [Source:MGI Symbol;Acc:MGI:2443342] |
| Ensembl ID | ENSMUSG00000073678 |
| Bio databases IDs | |
| Aliases | post-GPI attachment to proteins 1 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- preweaning lethality complete penetrance
- abnormal brain development
- abnormal brain morphology
- abnormal cerebral cortex morphology
- abnormal cranial cartilage morphology
- abnormal cranium morphology
- abnormal diencephalon morphology
- abnormal eye morphology
- abnormal facial morphology
- abnormal forebrain development
- abnormal forebrain morphology
- abnormal head development
- abnormal interparietal bone morphology
- abnormal medial nasal prominence morphology
- abnormal neural tube morphology
- abnormal occipital bone morphology
- abnormal oropharynx morphology
- abnormal outer ear morphology
- abnormal sperm physiology
- abnormal sternum morphology
- abnormal telencephalon development
- abnormal telencephalon morphology
- absent Rathke's pouch
- absent auditory tube
- absent basioccipital bone
- absent gastric milk in neonates
- absent mandible
- absent maxilla
- absent nasal cavity
- absent olfactory bulb
- absent paranasal sinus
- anophthalmia
- cervical vertebral transformation
- cyclopia
- decreased fetal size
- decreased survivor rate
- forebrain hypoplasia
- fused first pharyngeal arch
- holoprosencephaly
- increased rib number
- infertility
- lumbar vertebral transformation
- male infertility
- microcephaly
- micrognathia
- microphthalmia
- narrow face
- ocular hypotelorism
- otocephaly
- perinatal lethality incomplete penetrance
- postnatal growth retardation
- prenatal lethality incomplete penetrance
- proboscis
- small embryonic telencephalon
- small forehead
- small mandible
- thoracic vertebral transformation
- truncated foregut
- vertebral transformation
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 mouse 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