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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
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