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MGP006082

UniProt Annotations

Entry Information
Gene Namejunctional adhesion molecule 3
Protein EntryJAM3_HUMAN
UniProt IDQ9BX67
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BX67-1; Sequence=Displayed; Name=2; IsoId=Q9BX67-2; Sequence=VSP_042561; Note=No experimental confirmation available.;
DiseaseHemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730]: A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain parenchyma, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. The clinical course is very severe resulting in death in infancy. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue. {ECO:0000269|PubMed:21109224, ECO:0000269|PubMed:23255084}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionParticipates in cell-cell adhesion. It is a counter- receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN). The soluble form is a mediator of angiogenesis. {ECO:0000269|PubMed:12208882, ECO:0000269|PubMed:15194813, ECO:0000269|PubMed:20592283}.
InteractionP57087:JAM2; NbExp=2; IntAct=EBI-4314733, EBI-3918416;
PtmProteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble JAM3 is increased by proinflammatory factors. {ECO:0000269|PubMed:20592283}.
Sequence CautionSequence=CAC94776.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the immunoglobulin superfamily. {ECO:0000305}.
SimilarityContains 1 Ig-like C2-type (immunoglobulin-like) domain. {ECO:0000305}.
SimilarityContains 1 Ig-like V-type (immunoglobulin-like) domain. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, desmosome. Secreted, extracellular space. Note=In epithelial cells, it is expressed at desmosomes but not at tight junctions. Localizes at the cell surface of endothelial cells; treatment of endothelial cells with vascular endothelial growth factor stimulates recruitment of JAM3 to cell-cell contacts.
SubunitInteracts with JAM2. Interacts with ITGAM. {ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:12208882, ECO:0000269|PubMed:15194813}.
Tissue SpecificityHighest expression in placenta, brain and kidney. Significant expression is detected on platelets. Expressed in intestinal mucosa cells. Expressed in the vascular endothelium. Found in serum (at protein level). Also detected in the synovial fluid of patients with rheumatoid arthritis, psoriatic arthritis or ostearthritis (at protein level). {ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:11944976, ECO:0000269|PubMed:12208882, ECO:0000269|PubMed:15194813, ECO:0000269|PubMed:15994945, ECO:0000269|PubMed:20592283}.
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