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The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]
PIGY (Phosphatidylinositol Glycan Anchor Biosynthesis Class Y) is a Protein Coding gene. Diseases associated with PIGY include Hyperphosphatasia With Mental Retardation Syndrome 6 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Metabolism and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0017176 | contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity | IDA | 16162815 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000506 | glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex | IBA,IDA | 16162815 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IDA,TAS | -- |
GO:0005886 | plasma membrane | IDA | 16162815 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
2 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006506 | GPI anchor biosynthetic process | IDA | 16162815 |
GO:0016254 | preassembly of GPI anchor in ER membrane | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phytosphingosine | Experimental | Pharma | 0 | |||
Sphingosine | Experimental | Pharma | 0 | |||
sphinganine | Pharma | 0 | ||||
Sphingosine-1-phosphate | Pharma | Agonist, Full agonist | endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Dehydrosphinganine |
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16105-69-4 |
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3-O-Sulfogalactosylceramide (d18:1/12:0) |
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852100-88-0 |
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3-O-Sulfogalactosylceramide (d18:1/14:0) |
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3-O-Sulfogalactosylceramide (d18:1/16:0) |
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862509-48-6 |
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3-O-Sulfogalactosylceramide (d18:1/18:0) |
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244215-65-4 |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIGY 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIGY 30 |
|
||
Cow (Bos Taurus) |
Mammalia | PIGY 30 |
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Rat (Rattus norvegicus) |
Mammalia | LOC100365921 30 |
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Mouse (Mus musculus) |
Mammalia | Pigyl 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PIGY 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pigy 30 |
|
||
Str.20118 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | Dr.15340 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13853 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
791982 | Likely Benign: not provided | 88,521,647(-) | G/A | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs143548787 | Conflicting Interpretations: not provided | 88,521,773(-) | G/C | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs869025322 | Pathogenic: Hyperphosphatasia with mental retardation syndrome 6. Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6) [MIM:616809] | 88,521,653(-) | A/Gp.Leu46Pro | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs869025323 | Pathogenic: Hyperphosphatasia with mental retardation syndrome 6 | 88,523,797(-) | C/T | FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperphosphatasia with mental retardation syndrome 6 |
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hyperphosphatasia-intellectual disability syndrome |
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muscular dystrophy, congenital, with cataracts and intellectual disability |
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anterior segment dysgenesis 4 |
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multiple congenital anomalies-hypotonia-seizures syndrome 3 |
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