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phosphatidylinositol glycan anchor biosynthesis class H
Summary
- Gene Symbol
-
- PIGH
- Aliases
-
- GPI-H
- phosphatidylinositol N-acetylglucosaminyltransferase subunit H
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Autism spectrum disorder
- Cytoplasm
- Disease variant
- Epilepsy
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q14442 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process | ||
| protein modification process |
|
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 |
|---|---|---|
| catalytic activity |
|
|
| protein binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg216
- Gene Symbol
-
- PIGH
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:10907 | microcephaly | |
| DOID:11832 | visual epilepsy | |
| DOID:12849 | autistic disorder | |
| DOID:162 | cancer | |
| DOID:1826 | epilepsy | |
| DOID:4766 | embryoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001510 | Growth delay |
| HP:0001864 | Clinodactyly of the 5th toe |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002155 | Hypertriglyceridemia |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002465 | Poor speech |
| HP:0002754 | Osteomyelitis |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004379 | Abnormality of alkaline phosphatase level |
| Disease ID | Disease Name |
|---|---|
| OMIM:618010 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000640
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis, class H
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 40944 | FB:FBgn0037535 | ||
| 103187522 | CALMI37058 | ||
| 102361618 | LATCH09900 | ||
| 436838 | ZFIN:ZDB-GENE-040718-303 | DANRE20301 | |
| 103030050 | ASTMX15642 | ||
| 108257596 | ICTPU19882 | ||
| 113570534 | ELEEL05980 | ||
| 105024343 | ESOLU68171 | ||
| 100195659 | SALSA130012 | ||
| 115154746 | SALTR25665 |
