PIGC Gene - Phosphatidylinositol Glycan Anchor Biosynthesis Class C
Essential Component of GPI Anchor Biosynthesis Pathway
Gene Information Card
| Symbol | PIGC |
|---|---|
| Full Name | phosphatidylinositol glycan anchor biosynthesis class C |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 5279 ncbi.nlm.nih.gov/gene/5279 |
| Ensembl ID | ENSG00000135898 |
| UniProt ID | Q92535 |
| OMIM ID | 601730 |
| HGNC ID | 8960 |
| Aliases | GPI2, PIG-C, MGC26577 |
Description
The PIGC gene encodes phosphatidylinositol glycan anchor biosynthesis class C protein, a subunit of the glycosylphosphatidylinositol (GPI)-N-acetylglucosaminyltransferase (GPI-GnT) complex. This complex catalyzes the first step of GPI anchor biosynthesis: the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). GPI anchors are essential for tethering various proteins to the cell surface. PIGC is located on chromosome 1q23.3 and is ubiquitously expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| GPI biosynthesis defect 1 (GPIBD1) | Loss-of-function mutations in PIGC impair GPI anchor synthesis, leading to reduced cell surface GPI-anchored proteins. | OMIM #610293; ClinVar |
| Intellectual disability, autosomal recessive | Homozygous PIGC mutations cause syndromic intellectual disability with seizures and dysmorphic features. | OMIM #601730; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 9.1 | Low |
| Kidney | 10.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 9.5 | Low expression |
| HepG2 | 8.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.270C>A (p.Tyr90*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Likely damaging; disrupts catalytic activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent PIGC protein, impairing GPI anchor synthesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GPI anchor biosynthetic process (GO:0006506) | • N-acetylglucosaminyltransferase complex (GO:0000506) |
| • transferring glycosyl groups (GO:0016757) | • endoplasmic reticulum membrane (GO:0005789) |
Pathways
• Glycosylphosphatidylinositol (GPI)-anchor biosynthesis (KEGG: hsa00563)
• Metabolism of proteins (Reactome: R-HSA-392499)
Protein Summary
PIGC is a 269-amino acid transmembrane protein localized to the endoplasmic reticulum membrane. It is a component of the GPI-N-acetylglucosaminyltransferase (GPI-GnT) complex, which also includes PIGA, PIGH, PIGP, PIGQ, and DPM2. PIGC is essential for the first step of GPI anchor biosynthesis. Mutations in PIGC cause autosomal recessive GPI biosynthesis defects, characterized by intellectual disability, seizures, and facial dysmorphism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIGC Knockout HEK293 Cell Line | EDJ-KQ5458 | Human | 5279 | Details Get a Quote |
| PIGC Knockout A-549 Cell Line | EDJ-KQ28654 | Human | 5279 | Details Get a Quote |
| PIGC Knockout HCT 116 Cell Line | EDJ-KQ28655 | Human | 5279 | Details Get a Quote |
| PIGC Knockout HeLa Cell Line | EDJ-KQ28656 | Human | 5279 | Details Get a Quote |
