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Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
GPC3 (Glypican 3) is a Protein Coding gene. Diseases associated with GPC3 include Simpson-Golabi-Behmel Syndrome, Type 1 and Wilms Tumor 1. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include heparan sulfate proteoglycan binding and peptidyl-dipeptidase inhibitor activity. An important paralog of this gene is GPC5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17549790 |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO:0060422 | peptidyl-dipeptidase inhibitor activity | IDA | 17549790 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IBA | 21873635 |
GO:0005764 | lysosome | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005796 | Golgi lumen | TAS | -- |
GO:0005886 | plasma membrane | IEA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chondroitin sulfate/dermatan sulfate metabolism |
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2 | Glycosaminoglycan metabolism | ||
3 | Metabolism of fat-soluble vitamins | ||
4 | Proteoglycans in cancer | ||
5 | mTOR signaling pathway (KEGG) |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | TAS | -- |
GO:0001658 | branching involved in ureteric bud morphogenesis | IEA | -- |
GO:0001822 | kidney development | IEA | -- |
GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
GO:0006027 | glycosaminoglycan catabolic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Fludarabine | Approved | Pharma | DNA synthsis inhibitor | 1533,1533 | ||
Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3670 | ||
Decitabine | Approved, Investigational | Pharma | DNA methyltransferase inhibitor | 388 | ||
Tyrosine | Approved, Investigational | Nutra | 1044 | |||
Alkylating Agents | Pharma | 5372 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPC3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GPC3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GPC3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gpc3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gpc3 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GPC3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GPC3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GPC3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GPC3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gpc3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gpc3 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | dally 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639319 | Uncertain Significance: Wilms tumor 1 | 133,536,273(-) | C/A | MISSENSE_VARIANT | |
640214 | Uncertain Significance: Wilms tumor 1 | 133,596,497(-) | T/C | MISSENSE_VARIANT | |
640240 | Uncertain Significance: Wilms tumor 1 | 133,754,163(-) | A/C | MISSENSE_VARIANT | |
641491 | Uncertain Significance: Wilms tumor 1 | 133,753,994(-) | G/C | MISSENSE_VARIANT | |
641745 | Uncertain Significance: Wilms tumor 1 | 133,753,943(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2740486 | CNV | deletion | 23290073 |
esv3559353 | CNV | deletion | 23714750 |
esv3574595 | CNV | loss | 25503493 |
esv3574596 | CNV | loss | 25503493 |
esv3574597 | CNV | loss | 25503493 |
esv3574599 | CNV | loss | 25503493 |
esv3577259 | CNV | gain | 25503493 |
esv3577260 | CNV | gain | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
simpson-golabi-behmel syndrome, type 1 |
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wilms tumor 1 |
|
|
simpson-golabi-behmel syndrome |
|
|
perlman syndrome |
|
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gigantism |
|