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This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P) is a Protein Coding gene. Diseases associated with PIGP include Epileptic Encephalopathy, Early Infantile, 55 and Early Infantile Epileptic Encephalopathy. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0017176 | contributes_to phosphatidylinositol N-acetylglucosaminyltransferase activity | IDA | 10944123 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000506 | glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex | IDA | 10944123 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycosylphosphatidylinositol (GPI)-anchor biosynthesis | ||
2 | Metabolism of proteins | ||
3 | Metabolism | ||
4 | Post-translational modification- synthesis of GPI-anchored proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006506 | GPI anchor biosynthetic process | IMP | 28334793 |
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 | |||
Uridine 5'-diphosphate | 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 |
|
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) |
|
862509-48-6 |
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3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIGP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
PIGP 30 |
|
||||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | PIGP 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Pigp 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pigp 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PIGP 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PIGP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PIGP 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | PIGP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pigp 30 |
|
||
Str.10811 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33103 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pigp 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666911 | Uncertain Significance: not specified | 37,072,532(-) | G/GACAATCTGTGGAA | SPLICE_ACCEPTOR_VARIANT,FRAMESHIFT_VARIANT | |
709520 | Benign: not provided | 37,065,660(-) | T/G | SYNONYMOUS_VARIANT | |
709521 | Benign: not provided | 37,067,340(-) | T/C | MISSENSE_VARIANT | |
713319 | Benign: not provided | 37,065,618(-) | G/A | SYNONYMOUS_VARIANT | |
789860 | Benign: not provided | 37,065,706(-) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3575389 | CNV | gain | 25503493 |
nsv1066107 | CNV | loss | 25217958 |
nsv3510 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epileptic encephalopathy, early infantile, 55 |
|
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early infantile epileptic encephalopathy |
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down syndrome |
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fallopian tube serous adenocarcinoma |
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sclerosing liposarcoma |
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