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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
phosphatidylinositol glycan anchor biosynthesis class Y
Summary
- Gene Symbol
-
- PIGY
- Aliases
-
- MGC14156
- PIG-Y
- Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Direct protein sequencing
- Disease variant
- Endoplasmic reticulum
- GPI-anchor biosynthesis
- Intellectual disability
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q3MUY2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| plasma membrane | ||
| glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| phosphatidylinositol N-acetylglucosaminyltransferase activity | ||
| protein binding |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg218
- Gene Symbol
-
- PIGY
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:540 | strabismus | |
| DOID:758 | situs inversus | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0060216 | Cogan syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060320 | inguinal hernia | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0070437 | hyperphosphatasia with impaired intellectual development syndrome 6 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:10293 | monocular esotropia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000126 | Hydronephrosis |
| HP:0000193 | Bifid uvula |
| HP:0000218 | High palate |
| HP:0000248 | Brachycephaly |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000289 | Broad philtrum |
| HP:0000303 | Mandibular prognathia |
| Disease ID | Disease Name |
|---|---|
| OMIM:616809 |
|
| ORPHA:247262 |
|
PubChem Disease
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP006783
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis, class Y
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103175070 | CALMI06225 | ||
| 555881 | DANRE27104 | ||
| 100196164 | SALSA52900 | ||
| 115197464 | SALTR12399 | ||
| 103466265 | POERE28738 | ||
| 108710150 | Xenbase:XB-GENE-17346800 | ||
| 496649 | Xenbase:XB-GENE-5783232 | ||
| 101175705 | Xenbase:XB-GENE-17329836 | ||
| 103305692 | CHRPI11476 | ||
| 103826050 | SERCA03794 |
