Q9BX67 (JAM3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 108.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Junctional adhesion molecule C Short name=JAM-C Alternative name(s): JAM-2 Junctional adhesion molecule 3 Short name=JAM-3 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 310 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.3 Ref.12 Ref.16 |
| Subunit structure | Interacts with JAM2. Interacts with ITGAM. Ref.1 Ref.3 Ref.12 |
| Subcellular location | Cell membrane; Single-pass type I membrane protein Potential. Cell junction › desmosome. Secreted › extracellular 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. Ref.12 Ref.13 Ref.16 |
| Tissue specificity | 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). Ref.1 Ref.3 Ref.4 Ref.12 Ref.13 Ref.16 |
| Post-translational modification | Proteolytically cleaved from endothelial cells surface into a soluble form by ADAM10 and ADAM17; the release of soluble JAM3 is increased by proinflammatory factors. Ref.16 |
| Involvement in disease | 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. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue. |
| Sequence similarities | Belongs to the immunoglobulin superfamily. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Ig-like V-type (immunoglobulin-like) domain. |
| Sequence caution | The sequence CAC94776.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| JAM2 | P57087 | 2 | EBI-4314733,EBI-3918416 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BX67-1) 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. | ||||||
| Isoform 2 (identifier: Q9BX67-2) The sequence of this isoform differs from the canonical sequence as follows: 85-135: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 31 | 31 | Ref.10 | ||||||||
| Chain | 32 – 310 | 279 | Junctional adhesion molecule C | PRO_0000015071 | |||||||
Regions | |||||||||||
| Topological domain | 32 – 241 | 210 | Extracellular Potential | ||||||||
| Transmembrane | 242 – 262 | 21 | Helical; Potential | ||||||||
| Topological domain | 263 – 310 | 48 | Cytoplasmic Potential | ||||||||
| Domain | 35 – 127 | 93 | Ig-like V-type | ||||||||
| Domain | 139 – 236 | 98 | Ig-like C2-type | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 104 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 192 | 1 | N-linked (GlcNAc...) Ref.14 | ||||||||
| Glycosylation | 198 | 1 | N-linked (GlcNAc...) Ref.14 | ||||||||
| Disulfide bond | 53 ↔ 115 | Potential | |||||||||
| Disulfide bond | 160 ↔ 219 | Potential | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 85 – 135 | 51 | Missing in isoform 2. | VSP_042561 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 136 | 1 | Q → R in AAH10690. Ref.9 | ||||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [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. 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] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [7] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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, MASS SPECTROMETRY. 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] | "Junctional adhesion molecule-C is a soluble mediator of angiogenesis." Rabquer B.J., Amin M.A., Teegala N., Shaheen M.K., Tsou P.S., Ruth J.H., Lesch C.A., Imhof B.A., Koch A.E. J. Immunol. 185:1777-1785(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION IN ANGIOGENESIS, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, PROTEOLYTIC CLEAVAGE BY ADAM10 AND ADAM17. |
| [17] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00152850. IPI00902570. |
| RefSeq | NP_001192258.1. NM_001205329.1. NP_116190.3. NM_032801.4. |
| UniGene | Hs.150718. |
3D structure databases | |
| ProteinModelPortal | Q9BX67. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9BX67. 1 interaction. |
| MINT | MINT-4085421. |
| STRING | 9606.ENSP00000299106. |
Protein family/group databases | |
| MEROPS | I43.001. |
PTM databases | |
| PhosphoSite | Q9BX67. |
Polymorphism databases | |
| DMDM | 51701611. |
Proteomic databases | |
| PaxDb | Q9BX67. |
| PRIDE | Q9BX67. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000299106; ENSP00000299106; ENSG00000166086. ENST00000441717; ENSP00000395742; ENSG00000166086. ENST00000529443; ENSP00000431883; ENSG00000166086. |
| GeneID | 83700. |
| KEGG | hsa:83700. |
| UCSC | uc001qhb.2. human. uc009zcz.2. human. |
Organism-specific databases | |
| CTD | 83700. |
| GeneCards | GC11P133972. |
| HGNC | HGNC:15532. JAM3. |
| HPA | HPA003417. |
| MIM | 606871. gene. 613730. phenotype. |
| neXtProt | NX_Q9BX67. |
| Orphanet | 306547. Porencephaly-microcephaly-bilateral congenital cataract syndrome. |
| PharmGKB | PA29993. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG147320. |
| HOGENOM | HOG000247041. |
| HOVERGEN | HBG000518. |
| InParanoid | Q9BX67. |
| KO | K06785. |
| OrthoDB | EOG4D26QH. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | amb2_neutrophils_pathway. amb2 Integrin signaling. |
| Reactome | REACT_111102. Signal Transduction. REACT_604. Hemostasis. |
Gene expression databases | |
| ArrayExpress | Q9BX67. |
| Bgee | Q9BX67. |
| CleanEx | HS_JAM3. |
| Genevestigator | Q9BX67. |
| GermOnline | ENSG00000166086. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.40.10. 2 hits. |
| InterPro | IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR003599. Ig_sub. IPR003598. Ig_sub2. IPR013106. Ig_V-set. [Graphical view] |
| Pfam | PF07686. V-set. 1 hit. [Graphical view] |
| SMART | SM00409. IG. 1 hit. SM00408. IGc2. 1 hit. [Graphical view] |
| PROSITE | PS50835. IG_LIKE. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | JAM3. human. |
| GenomeRNAi | 83700. |
| NextBio | 72688. |
| SOURCE | Search... |
Entry information
| Entry name | JAM3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BX67 Secondary accession number(s): B3KWG9, Q8WWL8, Q96FL1 | ||||||||
| Entry history |
| ||||||||
| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
