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Q9BX67

- JAM3_HUMAN

UniProt

Q9BX67 - JAM3_HUMAN

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Protein

Junctional adhesion molecule C

Gene

JAM3

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. integrin binding Source: UniProtKB

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9BX67.
CleanExiHS_JAM3.
ExpressionAtlasiQ9BX67. baseline and differential.
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.
GeneTreeiENSGT00730000110678.
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

        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 CAC94776.1 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.
GeneTreei ENSGT00730000110678.
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

Bgeei Q9BX67.
CleanExi HS_JAM3.
ExpressionAtlasi Q9BX67. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 123 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