UniProtKB - Q9BX67 (JAM3_HUMAN)
Protein
Junctional adhesion molecule C
Gene
JAM3
Organism
Homo sapiens (Human)
Status
Functioni
Mediates cell-cell adhesion (PubMed:11590146, PubMed:12208882, PubMed:15194813). Functions as counter-receptor for JAM2 (PubMed:11590146). 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). May play a role in the regulation of cell migration (Probable). Required for normal polarization and acrosome formation in developing spermatids, and for normal male fertility (By similarity).By similarity1 Publication4 Publications
Soluble form of JAM-C: Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis.1 Publication
GO - Molecular functioni
- cell-cell adhesion mediator activity Source: ARUK-UCL
- integrin binding Source: UniProtKB
- protein heterodimerization activity Source: Ensembl
- protein homodimerization activity Source: Ensembl
GO - Biological processi
- adaptive immune response Source: Ensembl
- adherens junction assembly Source: ARUK-UCL
- angiogenesis Source: UniProtKB
- apical protein localization Source: ARUK-UCL
- axon regeneration Source: Ensembl
- cell-cell adhesion Source: ARUK-UCL
- cell-matrix adhesion Source: Ensembl
- establishment of cell polarity Source: Ensembl
- extracellular matrix organization Source: Reactome
- granulocyte migration Source: ARUK-UCL
- heterotypic cell-cell adhesion Source: ARUK-UCL
- leukocyte migration Source: Reactome
- leukocyte migration involved in inflammatory response Source: Ensembl
- myelination Source: Ensembl
- myeloid progenitor cell differentiation Source: Ensembl
- negative regulation of cell adhesion mediated by integrin Source: ARUK-UCL
- negative regulation of integrin activation Source: ARUK-UCL
- neutrophil homeostasis Source: Ensembl
- protein localization to cell junction Source: ARUK-UCL
- protein localization to cell surface Source: ARUK-UCL
- regulation of actin cytoskeleton organization by cell-cell adhesion Source: Ensembl
- regulation of neutrophil chemotaxis Source: UniProtKB
- spermatid development Source: Ensembl
- transmission of nerve impulse Source: Ensembl
Keywordsi
Biological process | Angiogenesis, Cell adhesion, Differentiation, Spermatogenesis |
Enzyme and pathway databases
Reactomei | R-HSA-202733 Cell surface interactions at the vascular wall R-HSA-216083 Integrin cell surface interactions |
Names & Taxonomyi
Protein namesi | Recommended name: Junctional adhesion molecule CShort name: JAM-C Alternative name(s): JAM-2 Junctional adhesion molecule 3 Short name: JAM-3 Cleaved into the following chain: |
Gene namesi | Name:JAM3 ORF Names:UNQ859/PRO1868 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15532 JAM3 |
MIMi | 606871 gene |
neXtProti | NX_Q9BX67 |
Subcellular locationi
Plasma membrane
- Cell membrane 5 Publications; Single-pass type I membrane protein Curated
Other locations
- Cell junction 1 Publication
- desmosome 1 Publication
- tight junction 1 Publication
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).By similarity
Soluble form of JAM-C :
Extracellular region or secreted
- Secreted 1 Publication
Cytoskeleton
- filamentous actin Source: ARUK-UCL
Extracellular region or secreted
- extracellular space Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: HPA
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: ARUK-UCL
Other locations
- bicellular tight junction Source: UniProtKB-SubCell
- cell-cell contact zone Source: UniProtKB
- cell-cell junction Source: ARUK-UCL
- desmosome Source: UniProtKB
- microvillus Source: ARUK-UCL
- paranodal junction Source: Ensembl
- Schmidt-Lanterman incisure Source: Ensembl
- tight junction Source: ARUK-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 32 – 241 | ExtracellularSequence analysisAdd BLAST | 210 | |
Transmembranei | 242 – 262 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 263 – 310 | CytoplasmicSequence analysisAdd BLAST | 48 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Secreted, Tight junctionPathology & Biotechi
Involvement in diseasei
Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069529 | 116 | E → K in HDBSCC; normal location at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs397515439EnsemblClinVar. | 1 | |
Natural variantiVAR_069530 | 219 | C → Y in HDBSCC; the mutant is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs397515438EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 264 | C → S: Decreased palmitoylation. Abolishes palmitoylation; when associated with S-265. 1 Publication | 1 | |
Mutagenesisi | 265 | C → S: Decreased palmitoylation. Abolishes palmitoylation; when associated with S-264. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 83700 |
MalaCardsi | JAM3 |
MIMi | 613730 phenotype |
OpenTargetsi | ENSG00000166086 |
Orphaneti | 306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome |
PharmGKBi | PA29993 |
Miscellaneous databases
Pharosi | Q9BX67 |
Polymorphism and mutation databases
BioMutai | JAM3 |
DMDMi | 51701611 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 31 | 1 PublicationAdd BLAST | 31 | |
ChainiPRO_0000015071 | 32 – 310 | Junctional adhesion molecule CAdd BLAST | 279 | |
ChainiPRO_0000445336 | 32 – ? | Soluble form of JAM-C |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 53 ↔ 115 | PROSITE-ProRule annotation | ||
Glycosylationi | 104 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 160 ↔ 219 | PROSITE-ProRule annotation | ||
Glycosylationi | 192 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Lipidationi | 264 | S-palmitoyl cysteine1 Publication | 1 | |
Lipidationi | 265 | S-palmitoyl cysteine1 Publication | 1 |
Post-translational modificationi
Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble JAM3 is increased by proinflammatory factors.1 Publication
S-palmitoylated by ZDHHC7. S-palmitoylation promotes expression at tight junctions.1 Publication
Keywords - PTMi
Disulfide bond, Glycoprotein, Lipoprotein, PalmitateProteomic databases
EPDi | Q9BX67 |
jPOSTi | Q9BX67 |
MassIVEi | Q9BX67 |
PeptideAtlasi | Q9BX67 |
PRIDEi | Q9BX67 |
ProteomicsDBi | 79366 [Q9BX67-1] 79367 [Q9BX67-2] |
PTM databases
GlyConnecti | 672 |
iPTMneti | Q9BX67 |
PhosphoSitePlusi | Q9BX67 |
SwissPalmi | Q9BX67 |
UniCarbKBi | Q9BX67 |
Expressioni
Tissue specificityi
Detected on round and elongated spermatids (at protein level) (PubMed:15372036). 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).7 Publications
Gene expression databases
Bgeei | ENSG00000166086 Expressed in 234 organ(s), highest expression level in corpus callosum |
ExpressionAtlasi | Q9BX67 baseline and differential |
Genevisiblei | Q9BX67 HS |
Organism-specific databases
HPAi | HPA003417 HPA050434 |
Interactioni
Subunit structurei
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
P57087 | 2 | EBI-4314733,EBI-3918416 |
GO - Molecular functioni
- cell-cell adhesion mediator activity Source: ARUK-UCL
- integrin binding Source: UniProtKB
- protein heterodimerization activity Source: Ensembl
- protein homodimerization activity Source: Ensembl
Protein-protein interaction databases
BioGridi | 123734, 9 interactors |
IntActi | Q9BX67, 3 interactors |
MINTi | Q9BX67 |
STRINGi | 9606.ENSP00000299106 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 35 – 127 | Ig-like V-typeAdd BLAST | 93 | |
Domaini | 139 – 236 | Ig-like C2-typeAdd BLAST | 98 |
Sequence similaritiesi
Belongs to the immunoglobulin superfamily.Curated
Keywords - Domaini
Immunoglobulin domain, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
GeneTreei | ENSGT00940000156937 |
HOGENOMi | HOG000247041 |
InParanoidi | Q9BX67 |
KOi | K06785 |
OMAi | KPVPPVC |
OrthoDBi | 906664at2759 |
PhylomeDBi | Q9BX67 |
TreeFami | TF331459 |
Family and domain databases
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR007110 Ig-like_dom IPR036179 Ig-like_dom_sf IPR013783 Ig-like_fold IPR003599 Ig_sub IPR003598 Ig_sub2 IPR013106 Ig_V-set IPR042974 JAM-C |
PANTHERi | PTHR44598 PTHR44598, 1 hit |
Pfami | View protein in Pfam PF07686 V-set, 1 hit |
SMARTi | View protein in SMART SM00409 IG, 2 hits SM00408 IGc2, 2 hits SM00406 IGv, 1 hit |
SUPFAMi | SSF48726 SSF48726, 2 hits |
PROSITEi | View protein in PROSITE PS50835 IG_LIKE, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BX67-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALRRPPRLR LCARLPDFFL LLLFRGCLIG AVNLKSSNRT PVVQEFESVE
60 70 80 90 100
LSCIITDSQT SDPRIEWKKI QDEQTTYVFF DNKIQGDLAG RAEILGKTSL
110 120 130 140 150
KIWNVTRRDS ALYRCEVVAR NDRKEIDEIV IELTVQVKPV TPVCRVPKAV
160 170 180 190 200
PVGKMATLHC QESEGHPRPH YSWYRNDVPL PTDSRANPRF RNSSFHLNSE
210 220 230 240 250
TGTLVFTAVH KDDSGQYYCI ASNDAGSARC EEQEMEVYDL NIGGIIGGVL
260 270 280 290 300
VVLAVLALIT LGICCAYRRG YFINNKQDGE SYKNPGKPDG VNYIRTDEEG
310
DFRHKSSFVI
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YD98 | H0YD98_HUMAN | Junctional adhesion molecule C | JAM3 | 124 | Annotation score: | ||
H0YCW9 | H0YCW9_HUMAN | Junctional adhesion molecule C | JAM3 | 38 | Annotation score: |
Sequence cautioni
The sequence CAC94776 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 136 | Q → R in AAH10690 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069529 | 116 | E → K in HDBSCC; normal location at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs397515439EnsemblClinVar. | 1 | |
Natural variantiVAR_069530 | 219 | C → Y in HDBSCC; the mutant is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs397515438EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042561 | 85 – 135 | Missing in isoform 2. 1 PublicationAdd BLAST | 51 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF356518 mRNA Translation: AAK27221.1 AJ344431 mRNA Translation: CAC69845.1 AF448478 mRNA Translation: AAM20925.1 AJ416101 mRNA Translation: CAC94776.1 Different initiation. AK074769 mRNA Translation: BAC11195.1 AK075309 mRNA Translation: BAC11538.1 AK125071 mRNA Translation: BAG54131.1 AY358335 mRNA Translation: AAQ88701.1 AP000911 Genomic DNA No translation available. AP001775 Genomic DNA No translation available. CH471065 Genomic DNA Translation: EAW67820.1 BC010690 mRNA Translation: AAH10690.1 BC012147 mRNA Translation: AAH12147.1 |
CCDSi | CCDS55799.1 [Q9BX67-2] CCDS8494.2 [Q9BX67-1] |
RefSeqi | NP_001192258.1, NM_001205329.1 [Q9BX67-2] NP_116190.3, NM_032801.4 [Q9BX67-1] |
Genome annotation databases
Ensembli | ENST00000299106; ENSP00000299106; ENSG00000166086 [Q9BX67-1] ENST00000441717; ENSP00000395742; ENSG00000166086 [Q9BX67-2] |
GeneIDi | 83700 |
KEGGi | hsa:83700 |
UCSCi | uc001qhb.4 human [Q9BX67-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF356518 mRNA Translation: AAK27221.1 AJ344431 mRNA Translation: CAC69845.1 AF448478 mRNA Translation: AAM20925.1 AJ416101 mRNA Translation: CAC94776.1 Different initiation. AK074769 mRNA Translation: BAC11195.1 AK075309 mRNA Translation: BAC11538.1 AK125071 mRNA Translation: BAG54131.1 AY358335 mRNA Translation: AAQ88701.1 AP000911 Genomic DNA No translation available. AP001775 Genomic DNA No translation available. CH471065 Genomic DNA Translation: EAW67820.1 BC010690 mRNA Translation: AAH10690.1 BC012147 mRNA Translation: AAH12147.1 |
CCDSi | CCDS55799.1 [Q9BX67-2] CCDS8494.2 [Q9BX67-1] |
RefSeqi | NP_001192258.1, NM_001205329.1 [Q9BX67-2] NP_116190.3, NM_032801.4 [Q9BX67-1] |
3D structure databases
SMRi | Q9BX67 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 123734, 9 interactors |
IntActi | Q9BX67, 3 interactors |
MINTi | Q9BX67 |
STRINGi | 9606.ENSP00000299106 |
PTM databases
GlyConnecti | 672 |
iPTMneti | Q9BX67 |
PhosphoSitePlusi | Q9BX67 |
SwissPalmi | Q9BX67 |
UniCarbKBi | Q9BX67 |
Polymorphism and mutation databases
BioMutai | JAM3 |
DMDMi | 51701611 |
Proteomic databases
EPDi | Q9BX67 |
jPOSTi | Q9BX67 |
MassIVEi | Q9BX67 |
PeptideAtlasi | Q9BX67 |
PRIDEi | Q9BX67 |
ProteomicsDBi | 79366 [Q9BX67-1] 79367 [Q9BX67-2] |
Protocols and materials databases
ABCDi | Q9BX67 |
Genome annotation databases
Ensembli | ENST00000299106; ENSP00000299106; ENSG00000166086 [Q9BX67-1] ENST00000441717; ENSP00000395742; ENSG00000166086 [Q9BX67-2] |
GeneIDi | 83700 |
KEGGi | hsa:83700 |
UCSCi | uc001qhb.4 human [Q9BX67-1] |
Organism-specific databases
CTDi | 83700 |
DisGeNETi | 83700 |
GeneCardsi | JAM3 |
HGNCi | HGNC:15532 JAM3 |
HPAi | HPA003417 HPA050434 |
MalaCardsi | JAM3 |
MIMi | 606871 gene 613730 phenotype |
neXtProti | NX_Q9BX67 |
OpenTargetsi | ENSG00000166086 |
Orphaneti | 306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome |
PharmGKBi | PA29993 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00940000156937 |
HOGENOMi | HOG000247041 |
InParanoidi | Q9BX67 |
KOi | K06785 |
OMAi | KPVPPVC |
OrthoDBi | 906664at2759 |
PhylomeDBi | Q9BX67 |
TreeFami | TF331459 |
Enzyme and pathway databases
Reactomei | R-HSA-202733 Cell surface interactions at the vascular wall R-HSA-216083 Integrin cell surface interactions |
Miscellaneous databases
ChiTaRSi | JAM3 human |
GeneWikii | JAM3 |
GenomeRNAii | 83700 |
Pharosi | Q9BX67 |
PROi | PR:Q9BX67 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000166086 Expressed in 234 organ(s), highest expression level in corpus callosum |
ExpressionAtlasi | Q9BX67 baseline and differential |
Genevisiblei | Q9BX67 HS |
Family and domain databases
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR007110 Ig-like_dom IPR036179 Ig-like_dom_sf IPR013783 Ig-like_fold IPR003599 Ig_sub IPR003598 Ig_sub2 IPR013106 Ig_V-set IPR042974 JAM-C |
PANTHERi | PTHR44598 PTHR44598, 1 hit |
Pfami | View protein in Pfam PF07686 V-set, 1 hit |
SMARTi | View protein in SMART SM00409 IG, 2 hits SM00408 IGc2, 2 hits SM00406 IGv, 1 hit |
SUPFAMi | SSF48726 SSF48726, 2 hits |
PROSITEi | View protein in PROSITE PS50835 IG_LIKE, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | JAM3_HUMAN | |
Accessioni | Q9BX67Primary (citable) accession number: Q9BX67 Secondary accession number(s): B3KWG9, Q8WWL8, Q96FL1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 31, 2004 |
Last sequence update: | June 1, 2001 | |
Last modified: | November 13, 2019 | |
This is version 166 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot