InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: JAM3

Summary

InnateDB Protein

IDBP-384796.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

JAM3

Protein Name

junctional adhesion molecule 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000395742

InnateDB Gene

IDBG-76413 (JAM3)

Protein Structure

UniProt Annotation

Function

Participates 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:0000269PubMed:12208882, ECO:0000269PubMed:15194813, ECO:0000269PubMed:20592283}.

Subcellular Localization

Cell 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.

Disease Associations

Hemorrhagic 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:0000269PubMed:21109224, ECO:0000269PubMed:23255084}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest 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:0000269PubMed:11590146, ECO:0000269PubMed:11944976, ECO:0000269PubMed:12208882, ECO:0000269PubMed:15194813, ECO:0000269PubMed:15994945, ECO:0000269PubMed:20592283}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005515	protein binding

Biological Process

GO:0001525	angiogenesis
GO:0007596	blood coagulation
GO:0030198	extracellular matrix organization
GO:0045087	innate immune response (InnateDB)
GO:0050900	leukocyte migration
GO:0090022	regulation of neutrophil chemotaxis

Cellular Component

GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0030057	desmosome
GO:0044291	cell-cell contact zone

Protein Structure and Domains

PDB ID

InterPro

IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin
IPR013162 CD80-like, immunoglobulin C2-set

PFAM

PF07679
PF07686
PF00047
PF08205

PRINTS

PIRSF

SMART

SM00408
SM00409

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9BX67