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phosphatidylinositol glycan anchor biosynthesis class C
Summary
- Gene Symbol
-
- PIGC
- Aliases
-
- GPI2
- PIG-C
- phosphatidylinositol N-acetylglucosaminyltransferase subunit C
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Disease variant
- Endoplasmic reticulum
- GPI-anchor biosynthesis
- Intellectual disability
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q92535 |
|
Gene Ontology (GO)
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex | ||
| endoplasmic reticulum membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| catalytic activity |
|
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- phosphatidylinositol
- Functional Category
-
- O: Posttranslational modification, protein turnover, chaperones
- P: Inorganic ion transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
| InterPro |
|---|
| Phosphatidylinositol N-acetylglucosaminyltransferase subunit C |
GlycoGene Database (GGDB)
- GGDB ID
- gg214
- Gene Symbol
-
- PIGC
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081223 | glycosylphosphatidylinositol biosynthesis defect 16 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0002465 | Poor speech |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003593 | Infantile onset |
| Disease ID | Disease Name |
|---|---|
| OMIM:617816 |
|
PubChem Disease
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000545
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis, class C
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 38410 | FB:FBgn0035435 | |||
| 67292 | MGI:1914542 | MOUSE28787 | ||
| 177765 | WB:WBGene00011860 | |||
| 323994 | ZFIN:ZDB-GENE-030131-2714 | DANRE18907 | ||
| 364032 | RGD:1311337 | RATNO07530 | ||
| 469583 | 9598_0:00047b | PANTR23032 | ||
| 480073 | CANLF17249 | |||
| 510483 | BOVIN08243 | |||
| 705657 | MACMU24892 | |||
| 856029 | SGD:S000005997 |
