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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. [provided by RefSeq, Jul 2008]
GPC1 (Glypican 1) is a Protein Coding gene. Diseases associated with GPC1 include Biliary Atresia, Extrahepatic and Omodysplasia. Among its related pathways are Signaling by GPCR and Diseases of glycosylation. Gene Ontology (GO) annotations related to this gene include copper ion binding and fibroblast growth factor binding. An important paralog of this gene is GPC6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005507 | copper ion binding | IDA | 12732622 |
GO:0017134 | fibroblast growth factor binding | ISS | -- |
GO:0043236 | laminin binding | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,HDA | 27068509 |
GO:0005615 | extracellular space | IEA,TAS | 2148568 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005796 | Golgi lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chondroitin sulfate/dermatan sulfate metabolism |
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2 | Signaling by Robo receptor | ||
3 | Glycosaminoglycan metabolism | ||
4 | Metabolism of fat-soluble vitamins | ||
5 | Developmental Biology |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | TAS | -- |
GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
GO:0006027 | glycosaminoglycan catabolic process | TAS | -- |
GO:0007411 | axon guidance | TAS | -- |
GO:0009966 | regulation of signal transduction | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Triethylenetetramine | Approved, Investigational | Pharma | Transporter, substrate | 0 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GPC1 30 |
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Cow (Bos Taurus) |
Mammalia | GPC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GPC1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gpc1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gpc1 30 |
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||
Oppossum (Monodelphis domestica) |
Mammalia | GPC1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GPC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GPC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GPC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gpc1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gpc1a 30 31 |
|
OneToMany | |
GPC1 (2 of 3) 31 |
|
OneToMany | |||
gpc1b 31 |
|
OneToMany | |||
zgc63947 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | dlp 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | gpn-1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs138375141 | Likely Benign: not provided | 240,462,311(+) |
G/A NM_002081.3(GPC1):c.446G>A (p.Arg149His) |
MISSENSE | |
rs2228329 | Benign: not provided | 240,465,497(+) |
C/T NM_002081.3(GPC1):c.1293C>T (p.Asp431=) |
SYNONYMOUS | |
rs61737161 | Benign: not provided | 240,462,246(+) |
C/T NM_002081.3(GPC1):c.381C>T (p.Pro127=) |
SYNONYMOUS | |
rs972321554 | Likely Benign: not provided | 240,465,626(+) |
C/T NM_002081.3(GPC1):c.1422C>T (p.Asn474=) |
SYNONYMOUS | |
VAR_036044 | A breast cancer sample |
p.Ala337Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7359n54 | CNV | loss | 21841781 |
esv1000024 | CNV | deletion | 20482838 |
esv1515337 | CNV | insertion | 17803354 |
esv2721931 | CNV | deletion | 23290073 |
esv2721932 | CNV | deletion | 23290073 |
esv2721933 | CNV | deletion | 23290073 |
esv2759119 | CNV | gain | 17122850 |
esv3594796 | CNV | gain | 21293372 |
esv3594798 | CNV | gain | 21293372 |
nsv1071663 | CNV | deletion | 25765185 |
nsv1122025 | CNV | deletion | 24896259 |
nsv1126584 | CNV | deletion | 24896259 |
nsv460157 | CNV | loss | 19166990 |
nsv460158 | CNV | loss | 19166990 |
nsv473084 | CNV | novel sequence insertion | 20440878 |
nsv508899 | CNV | insertion | 20534489 |
nsv516179 | CNV | loss | 19592680 |
nsv584809 | CNV | gain | 21841781 |
nsv584810 | CNV | loss | 21841781 |
nsv584811 | CNV | loss | 21841781 |
nsv819854 | CNV | gain | 19587683 |
nsv834585 | CNV | loss | 17160897 |
nsv955288 | CNV | deletion | 24416366 |
nsv997288 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
biliary atresia, extrahepatic |
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omodysplasia |
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simpson-golabi-behmel syndrome, type 1 |
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alzheimer disease |
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hereditary multiple exostoses |
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