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

Gene ID: 83700, updated on 22-Aug-2021

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
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Genomic context

See JAM3 in Genome Data Viewer
Location:
11q25
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (134069072..134152001)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (133938967..134021896)

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 PubChem

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

General protein information

Preferred Names
junctional adhesion molecule C

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001205329.2NP_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, 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
    smart00409
    Location:42135
    IG; Immunoglobulin
    cd00096
    Location:156231
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    134069072..134152001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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