Entity Details

Primary name JAM3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BX67
EntryNameJAM3_HUMAN
FullNameJunctional adhesion molecule C
TaxID9606
Evidenceevidence at protein level
Length310
SequenceStatuscomplete
DateCreated2004-08-31
DateModified2021-06-02

Ontological Relatives

GenesJAM3

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001780 neutrophil homeostasis
GO:0002250 adaptive immune response
GO:0002318 myeloid progenitor cell differentiation
GO:0002523 leukocyte migration involved in inflammatory response
GO:0002693 positive regulation of cellular extravasation
GO:0005178 integrin binding
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005902 microvillus
GO:0005911 cell-cell junction
GO:0005923 bicellular tight junction
GO:0007160 cell-matrix adhesion
GO:0007286 spermatid development
GO:0019226 transmission of nerve impulse
GO:0030010 establishment of cell polarity
GO:0030057 desmosome
GO:0030198 extracellular matrix organization
GO:0031103 axon regeneration
GO:0031941 filamentous actin
GO:0033010 paranodal junction
GO:0033624 negative regulation of integrin activation
GO:0033629 negative regulation of cell adhesion mediated by integrin
GO:0034113 heterotypic cell-cell adhesion
GO:0034333 adherens junction assembly
GO:0034394 protein localization to cell surface
GO:0035633 maintenance of blood-brain barrier
GO:0042552 myelination
GO:0042803 protein homodimerization activity
GO:0043220 Schmidt-Lanterman incisure
GO:0044291 cell-cell contact zone
GO:0045176 apical protein localization
GO:0046982 protein heterodimerization activity
GO:0050900 leukocyte migration
GO:0070160 tight junction
GO:0090022 regulation of neutrophil chemotaxis
GO:0090138 regulation of actin cytoskeleton organization by cell-cell adhesion
GO:0097241 hematopoietic stem cell migration to bone marrow
GO:0097530 granulocyte migration
GO:0098609 cell-cell adhesion
GO:0098632 cell-cell adhesion mediator activity
GO:0098636 protein complex involved in cell adhesion
GO:1902414 protein localization to cell junction
GO:1905710 positive regulation of membrane permeability

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Secreted

Domains

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DomainNameCategoryType
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013106 Immunoglobulin V-set domainDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily
IPR042974 Junctional adhesion molecule CFamilyFamily

Diseases

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Disease IDSourceNameDescription
613730 OMIMHemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC)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. The disease is caused by variants affecting the gene represented in this entry.