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FLASH GENE
Symbol OCLN contributors: npt/mct/pgu - updated : 03-06-2014
HGNC name occludin
HGNC id 8104
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal extracellular domains mediate homotypic adhesion
  • the four membrane spanning domains and the extracellular and intracellular loops contain sequences that constitute a MARVEL domain hypothesized to confer trafficking properties
  • C-terminal cytoplasmic domain controls protein targeting and endocytosis, is heavily phosphorylated, and S408 phosphorylation regulates tight junction protein interactions and barrier function , with the distal C terminus(AAs 413-452, forming a coiled-coil region necessary for TJP1 binding , coiled-coil occludin/ELL domain (OCEL)
  • an N and C terminus within the cytoplasm
    • HOMOLOGY
    Homologene
    FAMILY
  • ELL/occludin family
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • protein constituent of integral membrane at tight junctions of epithelial cells
  • localizes with centrosomes during interphase and occludin Ser-490 phosphorylation at centrosomes increases with mitotic entry
    • basic FUNCTION
  • accessory protein in tight junction strands formation, playing a role in both the formation of the paracellular barrier and in cell signaling
  • involved in the regulation of paracellular permeability as well as in the targeting of the protein to the tight junction
  • colocalised in the salivary excretory ducts with the tight junction proteins TJP1 and CLDN16 suggesting a potential role in paracellular calcium and magnesium transport
  • MARVELD3, OCLN, and MARVELD2 are best considered as a group with both redundant and unique contributions to epithelial function and tight junction regulation
  • integral tight junction protein, that is one of the key factors for HCV entry into cells
  • roles in epithelial barrier formation and maintenance
  • contributes to centrosomal separation and mitotic entry through Ser-490 phosphorylation
  • role for occludin in centrosome separation providing compelling evidence for a role of occludin in the regulation of mitotic entry
  • is involved in adhesion, apoptosis, differentiation and Ca2+-homeostasis of human keratinocytes (pmid: 23390516)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • MARVELD3, OCLN, and MARVELD2 define the tight junction-associated MARVEL protein family
  • ABCB1 and an integrated component of the occludin/zonula occludens 1 (TJP1) adhesion complex at the BTB, structurally interacted with PTK2, creating the OCLN/TJP1/PTK2/ABCB1 regulatory complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • C terminus can also bind to the scaffolding proteins TJP1, TJP2, TJP3, cingulin, the membrane trafficking protein VAP33, and the cytoskeletal protein F-actin
  • OCLN supports tricellular localization of MARVELD2 by excluding MARVELD2 from bTJs (bicellular tight junctions)
  • interaction with PTPRJ and TJP1 specific (occludin and TJP1 were dephosphorylated by PTPRJ but not the other phosphatases)
  • target of VEGFA action in the blood-brain barrier
  • NKX2-1 transactivated the expression of the epithelial tight junction molecules occludin (OCLN) and CLDN1
  • CELF1 represses OCLN translation by increasing occludin mRNA recruitment to P-bodies
  • ELAVL1 promotes OCLN translation by blocking occludin mRNA translocation to P-bodies via the displacement of ELAVL1
  • OCLN, MARVELD3 and MARVELD2 exhibited homophilic cis-interactions, along one plasma membrane (claudins regulate the interactions between OCLN, MARVELD2 and MARVELD3, which, inversely, modulate claudin oligomerization)
  • OCEL-domain interactions are required for maintenance and regulation of the tight junction barrier to macromolecular flux
  • KLF4 regulates blood-tumor barrier permeability via TJP1, OCLN and CLDN5
    • cell & other
    REGULATION
    Other phosphorylation of OCLN Ser-490 contributes to centrosome function in cell division derives from mutational analysis preventing Ser-490 phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s) BCPMG
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Alzheimer disease and vascular dementia
    tumoral     --other  
    aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia
    constitutional       loss of function
    OCLN deficiency with BACE1 elevation in cerebral amyloid angiopathy (CAA)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS