JAM3

Junctional adhesion molecule C is a protein that in humans is encoded by the JAM3 gene.[5]

JAM3
Identifiers
AliasesJAM3, JAM-2, JAM-3, JAM-C, JAMC, junctional adhesion molecule 3
External IDsOMIM: 606871 MGI: 1933825 HomoloGene: 11338 GeneCards: JAM3
Orthologs
SpeciesHumanMouse
Entrez

83700

83964

Ensembl

ENSG00000166086

ENSMUSG00000031990

UniProt

Q9BX67

Q9D8B7

RefSeq (mRNA)

NM_032801
NM_001205329

NM_023277

RefSeq (protein)

NP_001192258
NP_116190

NP_075766

Location (UCSC)Chr 11: 134.07 – 134.15 MbChr 9: 27.01 – 27.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

This gene is located on the long arm of chromosome 11 (11q25) on the Watson strand. It is 83,077 bases in length. The encoded protein is 310 amino acids long with a predicted molecular weight of 35.02 kiloDaltons.

Function

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, 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.[5]

Interactions

JAM3 has been shown to interact with PARD3.[6]

Clinical significance

Loss-of-function mutations in this gene cause a rare syndrome - autosomal recessive hemorrhagic destruction of the brain, subependymal calcification and congenital cataracts.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000166086 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031990 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: JAM3 junctional adhesion molecule 3".
  6. Ebnet K, Aurrand-Lions M, Kuhn A, Kiefer F, Butz S, Zander K, Meyer zu Brickwedde MK, Suzuki A, Imhof BA, Vestweber D (October 2003). "The junctional adhesion molecule (JAM) family members JAM-2 and JAM-3 associate with the cell polarity protein PAR-3: a possible role for JAMs in endothelial cell polarity". J. Cell Sci. 116 (Pt 19): 3879–91. doi:10.1242/jcs.00704. PMID 12953056.
  7. Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Sanchez MM, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L (December 2012). "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". Hum. Mutat. 34 (3): 498–505. doi:10.1002/humu.22263. PMC 3951164. PMID 23255084.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.