PGAP4
Post-GPI Attachment to Proteins 4
Gene Information Card
| Symbol | PGAP4 |
|---|---|
| Full Name | Post-GPI Attachment to Proteins 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 729533 ncbi.nlm.nih.gov/gene/729533 |
| Ensembl ID | ENSG00000215784 |
| UniProt ID | A6NEM2 |
| OMIM ID | 618366 |
| HGNC ID | 37240 |
| Aliases | C1orf106, FAM46D, TENT5D |
Description
PGAP4 (Post-GPI Attachment to Proteins 4) encodes a protein involved in the remodeling of glycosylphosphatidylinositol (GPI) anchors, which are essential for attaching proteins to the cell membrane. The protein is a member of the terminal nucleotidyltransferase family and catalyzes the addition of ethanolamine phosphate to the GPI anchor, a critical step in GPI anchor maturation. Mutations in PGAP4 are associated with inherited GPI deficiency disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inherited GPI deficiency | Impaired GPI anchor remodeling due to loss-of-function mutations in PGAP4 | ClinVar, OMIM |
| Neurodevelopmental disorder with hypotonia and seizures | Disruption of GPI-anchored protein expression affecting neuronal development | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Low |
| Brain | 3.1 | Not detected |
| Liver | 1.5 | Not detected |
| Heart | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Low expression |
| K562 | 1.8 | Low expression |
| HeLa | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Likely damaging, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt GPI anchor remodeling, leading to reduced cell surface expression of GPI-anchored proteins.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • glycosylphosphatidylinositol anchor biosynthetic process (GO:0000506) | • transferase activity (GO:0016740) |
| • cytoplasm (GO:0005737) |
Pathways
• GPI anchor biosynthesis (Reactome: R-HSA-162710)
• Post-translational modification: synthesis of GPI-anchored proteins (KEGG: hsa00563)
Protein Summary
PGAP4 is a 402-amino acid protein localized to the cytoplasm. It belongs to the terminal nucleotidyltransferase family and functions as a phosphoethanolamine transferase involved in GPI anchor remodeling. The protein is essential for the addition of the third ethanolamine phosphate to the GPI anchor, a step required for stable attachment of GPI-anchored proteins to the cell membrane. Loss of PGAP4 function leads to reduced surface expression of GPI-anchored proteins, contributing to neurological and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGAP4 Knockout HEK293 Cell Line | EDJ-KQ2742 | Human | 84302 | Details Get a Quote |
| PGAP4 Knockout A-549 Cell Line | EDJ-KQ23620 | Human | 84302 | Details Get a Quote |
| PGAP4 Knockout HCT 116 Cell Line | EDJ-KQ23621 | Human | 84302 | Details Get a Quote |
| PGAP4 Knockout HeLa Cell Line | EDJ-KQ23622 | Human | 84302 | Details Get a Quote |
