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Symbol PSMD12 contributors: mct - updated : 15-03-2017
HGNC name proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
HGNC id 9557
Corresponding disease
IDOD intellectual disability, ophthalmologic anomalies, deafness
Location 17q24.2      Physical location : 65.336.619 - 65.362.721
Synonym name
  • 26S proteasome regulatory subunit p55
  • proteasome 26S non-ATPase subunit 12
  • Synonym symbol(s) p55, Rpn5, MGC75406, PSDC
    DNA
    TYPE functioning gene
    STRUCTURE 28.71 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1814 - 456 - 1997 9426256
    10 - 1737 - 436 - 1997 9426256
    13 - 4707 - 397 - 1997 9426256
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortexfrontal cortexhighly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialbarrier/lining   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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