PGAP3
Summary: This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:611801 Ensembl IDEnsembl:ENSG00000161395 HGNC IDHGNC:HGNC:23719 PHARMGKB IDPA165432310 Map Location17q12 | |||||
GO terms in PGAP3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0031227 | intrinsic component of endoplasmic reticulum membrane |
| CC | IDA | GO:0031227 | intrinsic component of endoplasmic reticulum membrane |
| BP | IMP | GO:0006505 | GPI anchor metabolic process |
| BP | IBA | GO:0006506 | GPI anchor biosynthetic process |
Gene expression in normal tissue: PGAP3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PGAP3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PGAP3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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