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JAM3 junctional adhesion molecule 3 [ Homo sapiens (human) ]

Gene ID: 83700, updated on 10-Oct-2019

Summary

Official Symbol
JAM3provided by HGNC
Official Full Name
junctional adhesion molecule 3provided by HGNC
Primary source
HGNC:HGNC:15532
See related
Ensembl:ENSG00000166086 MIM:606871
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JAMC; JAM-2; JAM-3; JAM-C
Summary
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
Expression
Broad expression in placenta (RPKM 57.0), testis (RPKM 33.0) and 22 other tissues See more
Orthologs

Genomic context

See JAM3 in Genome Data Viewer
Location:
11q25
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (134068925..134152001)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (133938820..134021652)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2730 Neighboring gene long intergenic non-protein coding RNA 2731 Neighboring gene uncharacterized LOC107984040 Neighboring gene PTP4A2 pseudogene 2 Neighboring gene small nucleolar RNA, C/D box 153 Neighboring gene non-SMC condensin II complex subunit D3 Neighboring gene zinc finger protein 628 pseudogene Neighboring gene VPS26, retromer complex component B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of JAM3 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
    Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
  • Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Epithelial cell signaling in Helicobacter pylori infection, conserved biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, conserved biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
    Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
    amb2 Integrin signaling, organism-specific biosystem
    amb2 Integrin signaling

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14529

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cell-cell adhesion mediator activity IDA
Inferred from Direct Assay
more info
PubMed 
integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
adherens junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
apical protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
axon regeneration IEA
Inferred from Electronic Annotation
more info
 
cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
establishment of cell polarity IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
granulocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
heterotypic cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
leukocyte migration TAS
Traceable Author Statement
more info
 
leukocyte migration involved in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
myelination IEA
Inferred from Electronic Annotation
more info
 
myeloid progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell adhesion mediated by integrin IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of integrin activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil homeostasis IEA
Inferred from Electronic Annotation
more info
 
protein localization to cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of actin cytoskeleton organization by cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
regulation of neutrophil chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Schmidt-Lanterman incisure IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell contact zone IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
desmosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
filamentous actin IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
microvillus IDA
Inferred from Direct Assay
more info
PubMed 
paranodal junction IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
tight junction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
junctional adhesion molecule C

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028348.1 RefSeqGene

    Range
    5148..88077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001205329.1NP_001192258.1  junctional adhesion molecule C isoform 2 precursor

    See identical proteins and their annotated locations for NP_001192258.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AK125071, AP000911, AP001775
    Consensus CDS
    CCDS55799.1
    UniProtKB/Swiss-Prot
    Q9BX67
    Related
    ENSP00000395742.3, ENST00000441717.3
    Conserved Domains (1) summary
    pfam13927
    Location:83172
    Ig_3; Immunoglobulin domain
  2. NM_032801.5NP_116190.3  junctional adhesion molecule C isoform 1 precursor

    See identical proteins and their annotated locations for NP_116190.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AJ416101, AP001775
    Consensus CDS
    CCDS8494.2
    UniProtKB/Swiss-Prot
    Q9BX67
    Related
    ENSP00000299106.4, ENST00000299106.9
    Conserved Domains (2) summary
    smart00410
    Location:42135
    IG_like; Immunoglobulin like
    pfam13927
    Location:142223
    Ig_3; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    134068925..134152001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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