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FLASH GENE
Symbol OTUD7A contributors: mct/npt - updated : 15-11-2022
HGNC name OTU domain containing 7A
HGNC id 20718
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