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Q9BX67

- JAM3_HUMAN

UniProt

Q9BX67 - JAM3_HUMAN

Protein

Junctional adhesion molecule C

Gene

JAM3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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

    1. integrin binding Source: UniProtKB
    2. protein binding Source: IntAct

    GO - Biological processi

    1. adaptive immune response Source: Ensembl
    2. angiogenesis Source: UniProtKB
    3. blood coagulation Source: Reactome
    4. cell-matrix adhesion Source: Ensembl
    5. establishment of cell polarity Source: Ensembl
    6. extracellular matrix organization Source: Reactome
    7. leukocyte migration Source: Reactome
    8. leukocyte migration involved in inflammatory response Source: Ensembl
    9. myelination Source: Ensembl
    10. myeloid progenitor cell differentiation Source: Ensembl
    11. neutrophil homeostasis Source: Ensembl
    12. regulation of actin cytoskeleton organization by cell-cell adhesion Source: Ensembl
    13. regulation of neutrophil chemotaxis Source: UniProtKB
    14. spermatid development Source: Ensembl
    15. transmission of nerve impulse Source: Ensembl

    Keywords - Biological processi

    Angiogenesis, Cell adhesion

    Enzyme and pathway databases

    ReactomeiREACT_12051. Cell surface interactions at the vascular wall.
    REACT_13552. Integrin cell surface interactions.

    Protein family/group databases

    MEROPSiI43.001.

    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
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:15532. JAM3.

    Subcellular locationi

    Cell membrane Curated; Single-pass type I membrane protein Curated. Cell junctiondesmosome. Secretedextracellular space
    Note: In epithelial cells, it is expressed at desmosomes but not at tight junctions. 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.

    GO - Cellular componenti

    1. cell-cell contact zone Source: UniProtKB
    2. desmosome Source: UniProtKB
    3. extracellular space Source: UniProtKB
    4. integral component of membrane Source: UniProtKB-KW
    5. paranodal junction Source: Ensembl
    6. plasma membrane Source: Reactome
    7. Schmidt-Lanterman incisure Source: Ensembl
    8. tight junction Source: Ensembl

    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) [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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161E → K in HDBSCC. 1 Publication
    VAR_069529
    Natural varianti219 – 2191C → Y in HDBSCC; the mutant is retained in the endoplasmic reticulum. 1 Publication
    VAR_069530

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 31311 PublicationAdd
    BLAST
    Chaini32 – 310279Junctional adhesion molecule CPRO_0000015071Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi53 ↔ 115PROSITE-ProRule annotation
    Glycosylationi104 – 1041N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi160 ↔ 219PROSITE-ProRule annotation
    Glycosylationi192 – 1921N-linked (GlcNAc...)1 Publication
    Glycosylationi198 – 1981N-linked (GlcNAc...); atypical1 Publication

    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

    MaxQBiQ9BX67.
    PaxDbiQ9BX67.
    PRIDEiQ9BX67.

    PTM databases

    PhosphoSiteiQ9BX67.

    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

    ArrayExpressiQ9BX67.
    BgeeiQ9BX67.
    CleanExiHS_JAM3.
    GenevestigatoriQ9BX67.

    Organism-specific databases

    HPAiHPA003417.

    Interactioni

    Subunit structurei

    Interacts with JAM2. Interacts with ITGAM.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    JAM2P570872EBI-4314733,EBI-3918416

    Protein-protein interaction databases

    BioGridi123734. 6 interactions.
    IntActiQ9BX67. 2 interactions.
    MINTiMINT-4085421.
    STRINGi9606.ENSP00000299106.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BX67.
    SMRiQ9BX67. Positions 43-244.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini32 – 241210ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini263 – 31048CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei242 – 26221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini35 – 12793Ig-like V-typeAdd
    BLAST
    Domaini139 – 23698Ig-like C2-typeAdd
    BLAST

    Sequence similaritiesi

    Belongs to the immunoglobulin superfamily.Curated

    Keywords - Domaini

    Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG147320.
    HOGENOMiHOG000247041.
    HOVERGENiHBG000518.
    InParanoidiQ9BX67.
    KOiK06785.
    OrthoDBiEOG7DZ8KX.
    PhylomeDBiQ9BX67.
    TreeFamiTF331459.

    Family and domain databases

    Gene3Di2.60.40.10. 2 hits.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR013106. Ig_V-set.
    [Graphical view]
    PfamiPF07686. V-set. 1 hit.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    SM00408. IGc2. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 2 hits.
    [Graphical view]

    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. Align

    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

    MALRRPPRLR LCARLPDFFL LLLFRGCLIG AVNLKSSNRT PVVQEFESVE    50
    LSCIITDSQT SDPRIEWKKI QDEQTTYVFF DNKIQGDLAG RAEILGKTSL 100
    KIWNVTRRDS ALYRCEVVAR NDRKEIDEIV IELTVQVKPV TPVCRVPKAV 150
    PVGKMATLHC QESEGHPRPH YSWYRNDVPL PTDSRANPRF RNSSFHLNSE 200
    TGTLVFTAVH KDDSGQYYCI ASNDAGSARC EEQEMEVYDL NIGGIIGGVL 250
    VVLAVLALIT LGICCAYRRG YFINNKQDGE SYKNPGKPDG VNYIRTDEEG 300
    DFRHKSSFVI 310
    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 CAC94776.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti136 – 1361Q → R in AAH10690. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161E → K in HDBSCC. 1 Publication
    VAR_069529
    Natural varianti219 – 2191C → Y in HDBSCC; the mutant is retained in the endoplasmic reticulum. 1 Publication
    VAR_069530

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei85 – 13551Missing in isoform 2. 1 PublicationVSP_042561Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human. [Q9BX67-1]
    uc009zcz.2. human. [Q9BX67-2]

    Polymorphism databases

    DMDMi51701611.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 ]
    UniGenei Hs.150718.

    3D structure databases

    ProteinModelPortali Q9BX67.
    SMRi Q9BX67. Positions 43-244.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123734. 6 interactions.
    IntActi Q9BX67. 2 interactions.
    MINTi MINT-4085421.
    STRINGi 9606.ENSP00000299106.

    Protein family/group databases

    MEROPSi I43.001.

    PTM databases

    PhosphoSitei Q9BX67.

    Polymorphism databases

    DMDMi 51701611.

    Proteomic databases

    MaxQBi Q9BX67.
    PaxDbi Q9BX67.
    PRIDEi Q9BX67.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299106 ; ENSP00000299106 ; ENSG00000166086 . [Q9BX67-1 ]
    ENST00000441717 ; ENSP00000395742 ; ENSG00000166086 . [Q9BX67-2 ]
    GeneIDi 83700.
    KEGGi hsa:83700.
    UCSCi uc001qhb.3. human. [Q9BX67-1 ]
    uc009zcz.2. human. [Q9BX67-2 ]

    Organism-specific databases

    CTDi 83700.
    GeneCardsi GC11P133972.
    HGNCi HGNC:15532. JAM3.
    HPAi HPA003417.
    MIMi 606871. gene.
    613730. phenotype.
    neXtProti NX_Q9BX67.
    Orphaneti 306547. Porencephaly-microcephaly-bilateral congenital cataract syndrome.
    PharmGKBi PA29993.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG147320.
    HOGENOMi HOG000247041.
    HOVERGENi HBG000518.
    InParanoidi Q9BX67.
    KOi K06785.
    OrthoDBi EOG7DZ8KX.
    PhylomeDBi Q9BX67.
    TreeFami TF331459.

    Enzyme and pathway databases

    Reactomei REACT_12051. Cell surface interactions at the vascular wall.
    REACT_13552. Integrin cell surface interactions.

    Miscellaneous databases

    ChiTaRSi JAM3. human.
    GeneWikii JAM3.
    GenomeRNAii 83700.
    NextBioi 72688.
    PROi Q9BX67.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BX67.
    Bgeei Q9BX67.
    CleanExi HS_JAM3.
    Genevestigatori Q9BX67.

    Family and domain databases

    Gene3Di 2.60.40.10. 2 hits.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    IPR013106. Ig_V-set.
    [Graphical view ]
    Pfami PF07686. V-set. 1 hit.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    SM00408. IGc2. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor."
      Arrate M.P., Rodriguez J.M., Tran T.M., Brock T.A., Cunningham S.A.
      J. Biol. Chem. 276:45826-45832(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH JAM2, TISSUE SPECIFICITY.
      Tissue: Brain.
    2. "Heterogeneity of endothelial junctions is reflected by differential expression and specific subcellular localization of the three JAM family members."
      Aurrand-Lions M.A., Johnson-Leger C., Wong C., Du Pasquier L., Imhof B.A.
      Blood 98:3699-3707(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "The junctional adhesion molecule 3 (JAM-3) on human platelets is a counterreceptor for the leukocyte integrin Mac-1."
      Santoso S., Sachs U.J.H., Kroll H., Linder M., Ruf A., Preissner K.T., Chavakis T.
      J. Exp. Med. 196:679-691(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH ITGAM.
    4. "Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis."
      Phillips H.M., Renforth G.L., Spalluto C., Hearn T., Curtis A.R.J., Craven L., Havarani B., Clement-Jones M., English C., Stumper O., Salmon T., Hutchinson S., Jackson M.S., Wilson D.I.
      Genomics 79:475-478(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Thalamus.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Eye and Uterus.
    10. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 32-46.
    11. "Leukocyte-endothelial-cell interactions in leukocyte transmigration and the inflammatory response."
      Muller W.A.
      Trends Immunol. 24:327-334(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW, NOMENCLATURE.
    12. "JAM-C is a component of desmosomes and a ligand for CD11b/CD18-mediated neutrophil transepithelial migration."
      Zen K., Babbin B.A., Liu Y., Whelan J.B., Nusrat A., Parkos C.A.
      Mol. Biol. Cell 15:3926-3937(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN NEUTROPHIL TRANSEPITHELIAL MIGRATION, INTERACTION WITH ITGAM, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    13. "Antibody against junctional adhesion molecule-C inhibits angiogenesis and tumor growth."
      Lamagna C., Hodivala-Dilke K.M., Imhof B.A., Aurrand-Lions M.
      Cancer Res. 65:5703-5710(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    14. "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
      Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
      Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-192 AND ASN-198.
      Tissue: Leukemic T-cell.
    15. "A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts."
      Mochida G.H., Ganesh V.S., Felie J.M., Gleason D., Hill R.S., Clapham K.R., Rakiec D., Tan W.H., Akawi N., Al-Saffar M., Partlow J.N., Tinschert S., Barkovich A.J., Ali B., Al-Gazali L., Walsh C.A.
      Am. J. Hum. Genet. 87:882-889(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN HDBSCC.
    16. Cited for: FUNCTION IN ANGIOGENESIS, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, PROTEOLYTIC CLEAVAGE BY ADAM10 AND ADAM17.
    17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. "Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts."
      Akawi N.A., Canpolat F.E., White S.M., Quilis-Esquerra J., Morales Sanchez M., Gamundi M.J., Mochida G.H., Walsh C.A., Ali B.R., Al-Gazali L.
      Hum. Mutat. 34:498-505(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HDBSCC LYS-116 AND TYR-219, CHARACTERIZATION OF VARIANT HDBSCC TYR-219.

    Entry informationi

    Entry nameiJAM3_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 122 of the entry and version 1 of the sequence. [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

    External Data

    Dasty 3