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FLASH GENE
Symbol PSMD12 contributors: mct - updated : 15-03-2017
HGNC name proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
HGNC id 9557
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one PCI domain
  • HOMOLOGY
    interspecies homolog to murine Psmd12 (97.6pc)
    homolog to rattus Psmd12 (98.0pc)
    Homologene
    FAMILY
  • proteasome subunit p55 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • acting as a regulatory subunit of the 26s proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins
  • biological importance of PSMD12 as a scaffolding subunit in proteasome function during development and neurogenesis in particular
  • plays an important role during brain, kidney, and craniofacial development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • PA700 complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactions between FUS and proteins involved in neurodegenerative diseases and/or ubiquitin proteasome pathway, such as VCP, SFPQ, UBA1, and 26S proteosome non-ATPase regulatory subunit 12 (PSMD12)
  • have direct interactions with other proteins of the UPS signaling pathway: UBE3A, UBE3B, HUWE1, USP7, and USP9X, whose dysfunction is associated with intellectual disability (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IDOD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS