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Protein

Junctional adhesion molecule C

Gene

JAM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  • integrin binding Source: UniProtKB
  • protein heterodimerization activity Source: Ensembl
  • protein homodimerization activity Source: Ensembl

GO - Biological processi

Keywordsi

Biological processAngiogenesis, Cell adhesion

Enzyme and pathway databases

ReactomeiR-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 C
Short name:
JAM-C
Alternative name(s):
JAM-2
Junctional adhesion molecule 3
Short name:
JAM-3
Gene namesi
Name:JAM3
ORF Names:UNQ859/PRO1868
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000166086.12.
HGNCiHGNC:15532. JAM3.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini32 – 241ExtracellularSequence analysisAdd BLAST210
Transmembranei242 – 262HelicalSequence analysisAdd BLAST21
Topological domaini263 – 310CytoplasmicSequence analysisAdd BLAST48

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Secreted

Pathology & 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.
See also OMIM:613730
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069529116E → K in HDBSCC. 1 PublicationCorresponds to variant dbSNP:rs397515439Ensembl.1
Natural variantiVAR_069530219C → Y in HDBSCC; the mutant is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs397515438Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi83700.
MalaCardsiJAM3.
MIMi613730. phenotype.
OpenTargetsiENSG00000166086.
Orphaneti306547. Porencephaly-microcephaly-bilateral congenital cataract syndrome.
PharmGKBiPA29993.

Polymorphism and mutation databases

BioMutaiJAM3.
DMDMi51701611.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 311 PublicationAdd BLAST31
ChainiPRO_000001507132 – 310Junctional adhesion molecule CAdd BLAST279

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi53 ↔ 115PROSITE-ProRule annotation
Glycosylationi104N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi160 ↔ 219PROSITE-ProRule annotation
Glycosylationi192N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi198N-linked (GlcNAc...) asparagine; atypical1 Publication1

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9BX67.
PeptideAtlasiQ9BX67.
PRIDEiQ9BX67.

PTM databases

iPTMnetiQ9BX67.
PhosphoSitePlusiQ9BX67.
SwissPalmiQ9BX67.
UniCarbKBiQ9BX67.

Expressioni

Tissue specificityi

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).6 Publications

Gene expression databases

BgeeiENSG00000166086.
CleanExiHS_JAM3.
ExpressionAtlasiQ9BX67. baseline and differential.
GenevisibleiQ9BX67. HS.

Organism-specific databases

HPAiHPA003417.
HPA050434.

Interactioni

Subunit structurei

Interacts with JAM2. Interacts with ITGAM.3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • integrin binding Source: UniProtKB
  • protein heterodimerization activity Source: Ensembl
  • protein homodimerization activity Source: Ensembl

Protein-protein interaction databases

BioGridi123734. 7 interactors.
IntActiQ9BX67. 3 interactors.
MINTiMINT-4085421.

Structurei

3D structure databases

ProteinModelPortaliQ9BX67.
SMRiQ9BX67.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 127Ig-like V-typeAdd BLAST93
Domaini139 – 236Ig-like C2-typeAdd BLAST98

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00730000110678.
HOGENOMiHOG000247041.
HOVERGENiHBG000518.
InParanoidiQ9BX67.
KOiK06785.
OMAiGICCAYR.
OrthoDBiEOG091G0DWZ.
PhylomeDBiQ9BX67.
TreeFamiTF331459.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiView protein in InterPro
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
PfamiView protein in Pfam
PF07686. V-set. 1 hit.
SMARTiView protein in SMART
SM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
SM00406. IGv. 1 hit.
SUPFAMiSSF48726. SSF48726. 2 hits.
PROSITEiView protein in PROSITE
PS50835. IG_LIKE. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BX67-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:310
Mass (Da):35,020
Last modified:June 1, 2001 - v1
Checksum:iCE39ADF33EA1DAB9
GO
Isoform 2 (identifier: Q9BX67-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     85-135: Missing.

Note: No experimental confirmation available.
Show »
Length:259
Mass (Da):29,223
Checksum:i00F852424B415045
GO

Sequence cautioni

The sequence CAC94776 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti136Q → R in AAH10690 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069529116E → K in HDBSCC. 1 PublicationCorresponds to variant dbSNP:rs397515439Ensembl.1
Natural variantiVAR_069530219C → Y in HDBSCC; the mutant is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs397515438Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04256185 – 135Missing in isoform 2. 1 PublicationAdd BLAST51

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.
CCDSiCCDS55799.1. [Q9BX67-2]
CCDS8494.2. [Q9BX67-1]
RefSeqiNP_001192258.1. NM_001205329.1. [Q9BX67-2]
NP_116190.3. NM_032801.4. [Q9BX67-1]
UniGeneiHs.150718.

Genome annotation databases

EnsembliENST00000299106; ENSP00000299106; ENSG00000166086. [Q9BX67-1]
ENST00000441717; ENSP00000395742; ENSG00000166086. [Q9BX67-2]
GeneIDi83700.
KEGGihsa:83700.
UCSCiuc001qhb.4. human. [Q9BX67-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiJAM3_HUMAN
AccessioniPrimary (citable) accession number: Q9BX67
Secondary accession number(s): B3KWG9, Q8WWL8, Q96FL1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: June 1, 2001
Last modified: September 27, 2017
This is version 149 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families