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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]
PGAP3 (Post-GPI Attachment To Proteins Phospholipase 3) is a Protein Coding gene. Diseases associated with PGAP3 include Hyperphosphatasia With Mental Retardation Syndrome 4 and Diaphragmatic Hernia, Congenital. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on ester bonds.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016788 | hydrolase activity, acting on ester bonds | IMP | 17021251 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006505 | GPI anchor metabolic process | IMP | 17021251 |
GO:0006506 | GPI anchor biosynthetic process | IEA,IMP | 29374258 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | · | 9c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PGAP3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PGAP3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PGAP3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pgap3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Perld1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PGAP3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PGAP3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PGAP3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PGAP3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pgap3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:171485 30 |
|
||
PGAP3 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3271 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005392 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | R01B10.4 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR678C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C02101g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PER1 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G16560 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0220100 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08609 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC823.07 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
679984 | Benign: not provided | 39,674,647(-) | A/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
708595 | Likely Benign: not provided | 39,684,714(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
709315 | Likely Benign: not provided | 39,673,997(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
714858 | Benign: not provided | 39,684,705(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
715314 | Benign: not provided | 39,673,525(-) | T/C | MISSENSE_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperphosphatasia with mental retardation syndrome 4 |
|
|
diaphragmatic hernia, congenital |
|
|
cleft palate, isolated |
|
|
hyperphosphatasia-intellectual disability syndrome |
|
|
visual epilepsy |
|
|