PIGF Gene - Phosphatidylinositol Glycan Anchor Biosynthesis Class F
Essential component of the GPI anchor biosynthesis pathway
Gene Information Card
| Symbol | PIGF |
|---|---|
| Full Name | Phosphatidylinositol Glycan Anchor Biosynthesis Class F |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 5281 ncbi.nlm.nih.gov/gene/5281 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q07326 |
| OMIM ID | 600153 |
| HGNC ID | 8960 |
| Aliases | PIG-F, GPI7, MGC111102 |
Description
The PIGF gene encodes a subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex, which catalyzes the first step in GPI anchor biosynthesis. GPI anchors are glycolipid structures that attach proteins to the cell surface. PIGF is essential for the transfer of N-acetylglucosamine to phosphatidylinositol. Mutations in PIGF cause inherited GPI deficiency, a disorder characterized by neurological abnormalities, seizures, and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inherited GPI deficiency (PIGF-related) | Loss-of-function mutations in PIGF impair GPI anchor biosynthesis, reducing cell surface expression of GPI-anchored proteins. | ClinVar, OMIM #600153 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Liver | 6.5 | Medium |
| Heart | 5.1 | Low |
| Kidney | 4.8 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Embryonic kidney cells |
| HeLa | 6.3 | Cervical carcinoma cells |
| K562 | 5.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.270G>A (p.Trp90*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of function; translation initiation failure |
| c.403C>T (p.Arg135Trp) | Missense | Rare | Likely loss of function; reduced GPI anchor synthesis |
Mutation functional classification
Loss of Function (LOF)
Most reported PIGF mutations are loss-of-function, leading to reduced or absent GPI anchor biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex (GO:0000506) | • attachment of GPI anchor to protein (GO:0016255) |
| • GPI anchor biosynthetic process (GO:0006506) | • membrane (GO:0016020) |
Pathways
• GPI anchor biosynthesis (KEGG: hsa00563)
• Metabolism of proteins (Reactome: R-HSA-392499)
Protein Summary
PIGF is a 219-amino acid protein that localizes to the endoplasmic reticulum membrane. It is a component of the GPI-N-acetylglucosaminyltransferase complex, which also includes PIGA, PIGC, PIGH, PIGP, PIGQ, and PIGY. PIGF is required for the transfer of N-acetylglucosamine to phosphatidylinositol. Defects in PIGF cause autosomal recessive inherited GPI deficiency (OMIM #600153).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIGF Knockout HEK293 Cell Line | EDJ-KQ17836 | Human | 5281 | Details Get a Quote |
| PIGF Knockout HeLa Cell Line | EDJ-KQ54140 | Human | 5281 | Details Get a Quote |
| PIGF Knockout A-549 Cell Line | EDJ-KQ62631 | Human | 5281 | Details Get a Quote |
| PIGF Knockout HCT 116 Cell Line | EDJ-KQ71101 | Human | 5281 | Details Get a Quote |
