JAM3
entrez
83700
canonical
uniprot
Q9BX67
canonical
ensembl
ENSG00000166086
resolver
ensp
ENSP00000299106
resolver
ensp
ENSP00000395742
resolver
genesymbol
JAM3
resolver
hgnc
HGNC:15532
resolver
uniprot
B3KWG9
resolver
uniprot
Q8WWL8
resolver
uniprot
Q96FL1
resolver
uniprot_entry
JAM3_HUMAN
resolver
uniprot_sec
B3KWG9
resolver
uniprot_sec
Q8WWL8
resolver
uniprot_sec
Q96FL1
resolver
amino_acid_sequence
MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQTSDPRIEWKKIQDEQTTYVFFDNKIQGDLAGRAEILGKTSLKIWNVTRRDSALYRCEVVARNDRKEIDEIVIELTVQVKPVTPVCRVPKAVPVGKMATLHCQESEGHPRPHYSWYRNDVPLPTDSRANPRFRNSSFHLNSETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYDLNIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGVNYIRTDEEGDFRHKSSFVI
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:21109224, ECO:0000269|PubMed:23255084}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). Plays a role in the regulation of cell migration (Probable). During myogenesis, it is involved in myocyte fusion (By similarity). {ECO:0000250|UniProtKB:A3KPA0, ECO:0000250|UniProtKB:Q9D8B7, ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:11823489, ECO:0000269|PubMed:12208882, ECO:0000269|PubMed:15194813, ECO:0000269|PubMed:23255084, ECO:0000269|PubMed:24357068, ECO:0000305|PubMed:28196865}.; FUNCTION: [Soluble form of JAM-C]: Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis. {ECO:0000269|PubMed:20592283}.
uniprot
proteins
mass_dalton
35020
uniprot
proteins
mutagenesis
MUTAGEN 264; /note="C->S: Decreased palmitoylation. Abolishes palmitoylation; when associated with S-265."; /evidence="ECO:0000269|PubMed:28196865"; MUTAGEN 265; /note="C->S: Decreased palmitoylation. Abolishes palmitoylation; when associated with S-264."; /evidence="ECO:0000269|PubMed:28196865
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble JAM3 is increased by pro-inflammatory factors. {ECO:0000269|PubMed:20592283}.; PTM: S-palmitoylated by ZDHHC7. S-palmitoylation promotes expression at tight junctions. {ECO:0000269|PubMed:28196865}.
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
pubmed
11590146
uniprot
proteins
pubmed
11739175
uniprot
proteins
pubmed
11823489
uniprot
proteins
pubmed
11944976
uniprot
proteins
pubmed
12208882
uniprot
proteins
pubmed
12810109
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15194813
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15372036
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15994945
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
20592283
uniprot
proteins
pubmed
21109224
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23255084
uniprot
proteins
pubmed
24357068
uniprot
proteins
pubmed
28196865
uniprot
proteins
sequence_length
310
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11590146, ECO:0000269|PubMed:12208882, ECO:0000269|PubMed:15994945, ECO:0000269|PubMed:23255084, ECO:0000269|PubMed:28196865}; Single-pass type I membrane protein {ECO:0000305|PubMed:11590146}. Cell junction {ECO:0000269|PubMed:15994945}. Cell junction, desmosome {ECO:0000269|PubMed:15194813}. Cell junction, tight junction {ECO:0000269|PubMed:28196865}. Note=Detected in the acrosome region in developing spermatids (By similarity). In epithelial cells, it is expressed at desmosomes but not at tight junctions (PubMed:15194813). 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 (PubMed:15994945). {ECO:0000250|UniProtKB:Q9D8B7}.; SUBCELLULAR LOCATION: [Soluble form of JAM-C]: Secreted {ECO:0000269|PubMed:20592283}.
uniprot
proteins
transmembrane_region
TRANSMEM 242..262; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins