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FLASH GENE
Symbol OTUD7A contributors: mct/npt - updated : 15-11-2022
HGNC name OTU domain containing 7A
HGNC id 20718
Corresponding disease
EIEE93 epileptic encephalopathy, early infantile, 93
Location 15q13.3      Physical location : 31.775.329 - 31.947.542
Synonym name
  • chromosome 16 open reading frame 15
  • OTU domain containing 7
  • zinc finger protein Cezanne 2
    • Synonym symbol(s) CEZANNE2, C15orf16, OTUD7
    EC.number 3.4.19.12
    DNA
    TYPE functioning gene
    STRUCTURE 172.21 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3042 - 926 - 2021 33381903
    11 - 1840 - 425 - 2021 33381903
    13 - 10964 - 933 - 2021 33381903
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex highly Homo sapiens
    Reproductivemale systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an UBA domain
  • a OTU deubiquitinase domain
  • and an A20 zinc finger domain
    • HOMOLOGY
    interspecies ortholog to murine Otud7a (88 pc)
    Homologene
    FAMILY
  • peptidase C64 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • putative deubiquitinase (Shinawi 2009)
  • SNAI1 -mediated suppression of OTUD7A may have a key role in hepatocellular carcinoma malignancy
  • is a critical gene for brain function
  • major regulatory gene for DEL15Q13 syndrome that contribute to the disease mechanism through abnormal cortical neuron morphological development
  • putative deubiquitinating enzyme that localizes to dendritic spine compartments and has a protein-protein co-expression network that includes synaptic and dendritic signaling pathways
  • is the predominant gene regulating dendrite spine development
  • potential role of OTUD7A in regulation of dendritic spine density and glutamatergic synaptic transmission
  • putative deubiquitinating enzyme that localizes to spine compartments
  • OTUD7A is a driver of neurodevelopmental and psychiatric phenotypes at the 15q13.3 deletion
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • SNAI1 binds to the promoter of the OTUD7A gene and mediates the direct consequence of OTUD7A repression
  • interacts with TRAF6 and cleaves the polyubiquitin from TRAF6 substrates
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE93
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    may contribute to neuropsychiatric phenotypes
    tumoral     --low  
    in hepatocellular carcinoma
    constitutional       loss of function
    impairs synapse development and neuronal function in human neurons, in SZ-affected individuals
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Otud7a KO mice have deficits in cortical neuron dendritic spine density and glutamatergic transmission
  • Otud7a-null mice show reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalizations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (
  • Otud7a-null mice showed decreased dendritic spine density as well as reduced frequency of miniature excitatory postsynaptic currents