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Symbol OTUD6B contributors: mct - updated : 10-05-2017
HGNC name OTU domain containing 6B
HGNC id 24281
Corresponding disease
MRSDF mental retardation, seizures, dysmorphic features
Location 8q21.3      Physical location : 92.082.423 - 92.099.322
Synonym name CGI-77 protein
Synonym symbol(s) CGI-77, DUBA-5, DUBA5
EC.number 3.4.19.12
DNA
TYPE functioning gene
STRUCTURE 16.90 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 3452 - 192 - 2017 27864334
  • short OTUD6B-2 isoform stimulates protein synthesis
  • influences the expression of CCND1 by promoting its translation while regulating (directly or indirectly) MYC protein stability
  • represents an attractive, novel therapeutic target and potential biomarker for early diagnosis of malignant non-small cell lung cancer (NSCLC)
  • 7 - 3306 - 323 - 2017 27864334
  • long OTUD6B-1 isoform is inhibitory
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  moderately
    Lymphoid/Immunelymph node   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    an OTU domain
    HOMOLOGY
    interspecies ortholog to murine Otud6b
    Homologene
    FAMILY ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • potential role for OTUD6B in proteasome function
  • potential role of OTUD6B in removing ubiquitin and/or ubiquitin chains from protein substrates, and it may regulate the ubiquitin-proteasome system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRSDF
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    down-regulation of OTUD6B expression after prolonged cytokine stimulation may be required for cell proliferation in B lymphocytes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS