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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
phosphatidylinositol glycan anchor biosynthesis class P
Summary
- Gene Symbol
-
- PIGP
- Aliases
-
- DCRC
- DSRC
- phosphatidylinositol-n-acetylglucosaminyltranferase subunit P
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Epilepsy
- GPI-anchor biosynthesis
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| P57054 |
|
Gene Ontology (GO)
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane | ||
| glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylinositol N-acetylglucosaminyltransferase activity | ||
| protein binding |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg217
- Gene Symbol
-
- PIGP
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0050562 | West syndrome | |
| DOID:0050709 | early infantile epileptic encephalopathy | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060270 | pontocerebellar hypoplasia type 2D | |
| DOID:0060276 | pontocerebellar hypoplasia type 7 | |
| DOID:0060277 | pontocerebellar hypoplasia type 8 | |
| DOID:0060278 | pontocerebellar hypoplasia type 9 | |
| DOID:0060321 | umbilical hernia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010851 | EEG with burst suppression |
| HP:0011169 | Generalized clonic seizure |
| HP:0011190 | Uni- and bilateral multifocal epileptiform discharges |
| HP:0011968 | Feeding difficulties |
| HP:0012448 | Delayed myelination |
| HP:0012469 | Infantile spasms |
| HP:0012554 | Absent thumbnail |
| HP:0100660 | Dyskinesia |
| HP:0100704 | Cerebral visual impairment |
| HP:0100716 | Self-injurious behavior |
| Disease ID | Disease Name |
|---|---|
| ORPHA:1934 |
|
| OMIM:617599 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000186
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis, class P
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100715662 | CAVPO21363 | ||
| 101584648 | OCTDE10261 | ||
| 102452152 | PELSI14962 | ||
| 100559585 | ANOCA04852 | ||
| 114052722 | VOMUR15927 | ||
| 113896708 | BOBOX28234 | ||
| 100955395 | OTOGA02881 | ||
| 101072530 | TAKRU23816 | ||
| 102016028 | CHILA02604 | ||
| 105712550 | AOTNA07341 |
