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FLASH GENE
Symbol PSMG1 contributors: mct - updated : 06-11-2024
HGNC name proteasome (prosome, macropain) assembly chaperone 1
HGNC id 3043
Location 21q22.2      Physical location : 40.547.389 - 40.555.440
Synonym name
  • chromosome 21 leucine-rich protein
  • proteasome assembling chaperone-1
  • Down syndrome critical region gene 2
  • leucine rich protein C21-LRP
    • Synonym symbol(s) C21LRP, LRPC21, PAC1, DSCR2
    DNA
    TYPE functioning gene
    STRUCTURE 8.75 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1754 32 288 - 2004 15590417
    6 splicing 1077 30 267 - 2004 15590417
    7 - 1124 - 283 - 2004 15590417
    7 - 1332 - 201 - 2004 15590417
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveliver   moderately
     stomach   moderately
    Reproductivefemale systemuteruscervix predominantly
     male systemtestis  highly
    Urinarykidney   highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscular    
    Nervousperipherous   
    cell lineage
    cell lines leukemic T cell line, Jurkat and others
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text all tissues
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • leucine rich protein
  • two transmembrane helices (2TM)
    • mono polymer heteromer , dimer
    isoforms Precursor 43 kDa precursor protein, from which the N-terminus is cleaved resulting in a polypeptide of 41 kDa
    HOMOLOGY
    interspecies ortholog to murine Dscr2
    ortholog to rattus Dscr2_predicted
    homolog to chicken DSCR2
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • maintained on the cytoplasmic side of the ER by indirect interaction with the ER membrane or with another protein
  • targeted to a cytoplasmic compartment as a soluble form
    • basic FUNCTION
  • involved in the maturation of the 20S proteasomes
  • is a proteaseome assembly chaperone that dimerizes with PSMG2, to form the PSMG1/PSMG2 complex
  • PSMG1 and PSMG4 might be involved in various cancers, including acute myeloid leukemia (AML)
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer PSMG1 and PSMG2
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other degraded after formation of the 20S proteasome is completed
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to Crohn disease
  • to Takayasu arteritis
    • Variant & Polymorphism other
  • rs2836878 associated to Crohn disease
    • Candidate gene
    Marker for survival in acute myeloid leukemia
    Therapy target
    ANIMAL & CELL MODELS