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FLASH GENE
Symbol POMP contributors: mct/npt - updated : 13-07-2018
HGNC name proteasome maturation protein
HGNC id 20330
Corresponding disease
KLICK keratosis linearis with ichthyosis congenita and sclerosing keratoderma
PRAID POMP-related autoinflammation and immune dysregulation disease
Location 13q12.3      Physical location : 29.233.140 - 29.253.091
Synonym name
  • proteassemblin
  • chromosome 13 open reading frame 12
  • voltage-gated K channel beta subunit 4.1
  • protein UMP1 homolog
    • Synonym symbol(s) HSPC014, C13orf12, PNAS-110, UMP1, HSPC036, PRAAS2
    DNA
    TYPE functioning gene
    STRUCTURE 19.85 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1377 16 141 - 2017 28728908
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     salivary gland   highly
    Endocrinethyroid   highly
    Skin/Tegumentskin    
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer dimer
    HOMOLOGY
    interspecies ortholog to murine Pomp (86 pc)
    Homologene
    FAMILY
  • POMP/UMP1 family
    • CATEGORY chaperone/stress , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text present in the cytoplasm as well as in the nucleus (Hoefer 2006)
    basic FUNCTION
  • acts as a chaperone and is essential for the maturation of the 20S proteasome proteolytic core complex (Hoefer 2006)
  • essential factor of mammalian proteasome biogenesis, recruiting beta-subunits stepwise and mediating the association of mammalian precursor complexes with the ER (Fricke 2007)
  • facilitates the main steps in 20S core complex formation at the ER to coordinate the assembly process and to provide cells with freshly formed proteasomes at their site of function (Fricke 2007)
  • role in proteasome assembly and further strengthen the prospect of genetic manipulation of the proteasomal system (Chondrogianni 2007)
  • functions as a chaperone for proteasome maturation (Dahlqvist 2010)
  • is required for 20S proteasome assembly and, thus, for efficient NFKB1 signaling
  • potential role for POMP and proteasome assembly in psoriasis pathogenesis
  • is a chaperone for proteasome assembly and is critical for the incorporation of catalytic subunits into the proteasome
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • is predicted to dimerize to participate in the formation of a half-mer and further tetramerize when two half-mers join to form a mature 20S proteasome consisting of two outer alpha rings and two inner beta rings
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KLICK , PRAID
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS