PIGH Gene - Phosphatidylinositol Glycan Anchor Biosynthesis Class H
Essential component of the GPI anchor biosynthesis pathway
Gene Information Card
| Symbol | PIGH |
|---|---|
| Full Name | Phosphatidylinositol glycan anchor biosynthesis class H |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 5283 ncbi.nlm.nih.gov/gene/5283 |
| Ensembl ID | ENSG00000100564 |
| UniProt ID | Q14442 |
| OMIM ID | 600153 |
| HGNC ID | 8963 |
| Aliases | GPI-H, PIG-H, MGC8721 |
Description
PIGH encodes a subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, which is essential for attaching GPI anchors to proteins. The protein is localized to the endoplasmic reticulum and is required for the first step of GPI anchor biosynthesis: the transfer of N-acetylglucosamine to phosphatidylinositol. Mutations in PIGH cause a congenital disorder of glycosylation (CDG) with neurological involvement.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II (PIGH-CDG) | Loss-of-function mutations in PIGH impair GPI anchor biosynthesis, leading to defective cell surface expression of GPI-anchored proteins | ClinVar, OMIM |
| Intellectual disability | Disrupted GPI anchoring affects neuronal development and function | OMIM |
| Epileptic encephalopathy | GPI deficiency alters synaptic signaling and neuronal excitability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
| Kidney | 6.9 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| K562 | 6.2 | Leukemia cells |
| HepG2 | 9.1 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.370C>T (p.Arg124Ter) | Nonsense | Rare | Premature stop, loss of function |
| c.1A>G (p.Met1Val) | Missense | Rare | Start codon loss, no protein |
| c.404G>A (p.Arg135His) | Missense | Rare | Impaired GPI anchoring |
| c.518_519del (p.Glu173GlyfsTer5) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported PIGH mutations are loss-of-function, leading to reduced or absent GPI anchor synthesis.
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)
| • GPI anchor biosynthetic process (GO:0006506) | • Endoplasmic reticulum membrane (GO:0005789) |
| • N-acetylglucosaminyltransferase complex (GO:0000506) | • transferring glycosyl groups (GO:0016757) |
Pathways
• GPI anchor biosynthesis (KEGG: hsa00563)
• Glycosylphosphatidylinositol (GPI)-anchor biosynthesis (Reactome: R-HSA-162710)
Protein Summary
PIGH is a 188-amino acid protein (UniProt Q14442) that resides in the endoplasmic reticulum membrane. It is a component of the GPI-N-acetylglucosaminyltransferase (GPI-GnT) complex, which catalyzes the first step of GPI anchor biosynthesis. The protein contains a single transmembrane domain and is essential for the transfer of N-acetylglucosamine to phosphatidylinositol. Defects in PIGH lead to reduced cell surface GPI-anchored proteins, causing multisystem disorders including intellectual disability and seizures.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIGH Knockout HEK293 Cell Line | EDJ-KQ5464 | Human | 5283 | Details Get a Quote |
| PIGH Knockout HeLa Cell Line | EDJ-KQ27417 | Human | 5283 | Details Get a Quote |
| PIGH Knockout A-549 Cell Line | EDJ-KQ28664 | Human | 5283 | Details Get a Quote |
| PIGH Knockout HCT 116 Cell Line | EDJ-KQ28665 | Human | 5283 | Details Get a Quote |
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