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FLASH GENE
Symbol OTULIN contributors: mct - updated : 07-12-2021
HGNC name OTU deubiquitinase with linear linkage specificity
HGNC id 25118
Corresponding disease
AIPDS autoinflammation, panniculitis, and dermatosis syndrome
Location 5p15.2      Physical location : -
Synonym name family with sequence similarity 105, member B
Synonym symbol(s) FLJ34884, AIPDS, FAM105B, GUM
EC.number 3.4.19.12
DNA
TYPE functioning gene
STRUCTURE 55.76 kb     5 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 7969 - 352 - 2020 32231246
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C-terminal PDZ-binding motif (PDZbm)
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • M1-specific deubiquitinase OTULIN is essential for preventing TNF-associated systemic inflammation
  • is critical for restraining life-threatening spontaneous inflammation and maintaining immune homeostasis
  • OTULIN and LUBAC function in a linear pathway, and highlight a previously unrecognized interaction between linear ubiquitination, regulators of cell death, and induction of type I interferon
  • non-catalytic function of OTULIN in the regulation of SNX27-retromer assembly and recycling to the cell surface
  • is critical for maintaining liver homoeostasis, suggesting that M1-linked polyubiquitin chains may play a role in regulation of MTOR signalling and metabolism in the liver
  • complex role of OTULIN in cellular homeostasis
  • is a deubiquitinase that specifically cleaves linear ubiquitin chains
  • importance of OTULIN for restraining skin inflammation and maintaining immune homeostasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RNF31 binding to OTULIN is required for the recruitment of OTULIN to the TNF receptor complex and to counteract RNF31-dependent activation of the NFKB1 pathway
  • OTULIN promotes rather than counteracts LUBAC activity by preventing its auto-ubiquitination with linear polyubiquitin
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AIPDS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS