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The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]
PECAM1 (Platelet And Endothelial Cell Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with PECAM1 include Angiosarcoma and Capillary Hemangioma. Among its related pathways are Degradation of the extracellular matrix and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling. An important paralog of this gene is FCRL5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 9162084 |
GO:0042803 | protein homodimerization activity | IDA | 26702061 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IDA | 9290466 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0005911 | cell-cell junction | IDA | 15572031 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
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2 | Innate Immune System |
.61
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3 | Cell surface interactions at the vascular wall | ||
4 | Platelet homeostasis | ||
5 | Angiogenesis (CST) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA | -- |
GO:0001886 | endothelial cell morphogenesis | IEA | -- |
GO:0001934 | positive regulation of protein phosphorylation | IMP | 15985432 |
GO:0002576 | platelet degranulation | TAS | -- |
GO:0006909 | phagocytosis | IEA,IDA | 12110892 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PECAM1 30 |
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Dog (Canis familiaris) |
Mammalia | PECAM1 30 |
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Cow (Bos Taurus) |
Mammalia | PECAM1 30 |
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Rat (Rattus norvegicus) |
Mammalia | Pecam1 30 |
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Mouse (Mus musculus) |
Mammalia | Pecam1 30 17 |
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Chicken (Gallus gallus) |
Aves | PECAM1 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100493686 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-237i9.8 30 |
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SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
812624 | Benign: Three Vessel Coronary Disease | 64,356,203(-) | C/T | MISSENSE_VARIANT | |
812625 | Benign: Three Vessel Coronary Disease | 64,350,416(-) | T/C | MISSENSE_VARIANT | |
rs12953 | -. - | p.Ser563Ilep.Ser563Asn | |||
rs281865545 | Benign: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM; Three Vessel Coronary Disease; not provided. - | 64,377,836(-) | C/Gp.Val125Leu | MISSENSE_VARIANT | |
rs1131012 | - | p.Arg670Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1046865 | CNV | insertion | 17803354 |
esv990152 | CNV | insertion | 20482838 |
nsv1066968 | CNV | gain | 25217958 |
nsv2118 | CNV | insertion | 18451855 |
nsv2119 | CNV | insertion | 18451855 |
nsv480729 | CNV | novel sequence insertion | 20440878 |
nsv481581 | CNV | novel sequence insertion | 20440878 |
nsv507853 | OTHER | sequence alteration | 20534489 |
nsv509666 | CNV | insertion | 20534489 |
nsv511058 | OTHER | complex | 20534489 |
nsv524852 | CNV | gain | 19592680 |
nsv833512 | CNV | gain+loss | 17160897 |
nsv833513 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
angiosarcoma |
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capillary hemangioma |
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erythema elevatum diutinum |
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hemangioma |
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radiation proctitis |
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