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FLASH GENE
Symbol CHMP1A contributors: mct/npt/pgu - updated : 31-01-2020
HGNC name chromatin modifying protein 1A
HGNC id 8740
Corresponding disease
PCH8 pontocerebellar hypoplasia, type 8
Location 16q24.3      Physical location : 89.710.845 - 89.724.129
Synonym name
  • protease, metallo, 1.33kD
  • procollagen (type III) N-endopeptidase
  • vacuolar protein-sorting-associated protein 46-1
  • charged multivesicular body protein 1a
  • Synonym symbol(s) PNP3, CHMP1, PRSM1, KIAA0047, PCOLN3, Vps46-1, VPS46A
    EC.number 3.4.24.-
    DNA
    TYPE functioning gene
    STRUCTURE 13.29 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2353 - 240 - 2001 11559748
    7 - 2373 21 196 - 2001 11559748
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     intestinelarge intestinecolon  
     stomach    
    Lymphoid/Immunelymph node    
     thymus    
    Nervousbrainhindbraincerebellum   Mus musculusFetal
     brainforebraincerebral cortex highly Mus musculusFetal
    Reproductivefemale systemuteruscervix  
    Skin/Tegumentskin    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • zinc-binding motif, HExxGH
  • a predicted bipartite nuclear localization signal
  • phosphorylation sites in the C-terminal region
  • conjugated MetalloP
    HOMOLOGY
    interspecies homolog to murine Pcoln3
    intraspecies homolog to C18orf2
    Homologene
    FAMILY
  • zincin superfamily
  • chromatin-modifying protein/charged multivesicular body protein (CHMP) family
  • gluzincin subfamily of metallopeptidases
  • SNF7 family
  • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nuclear envelope,matrix attachement regions
    text
  • speckled nuclear localization of endogenous CHMP1A
  • basic FUNCTION
  • required for multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs
  • also involved in chromosome condensation
  • plays a role in stable gene silencing within the nucleus
  • tumor suppressor, especially in pancreas and regulates tumor growth potentially through TP53 signaling pathway
  • regulates tumor growth partly through ATM signaling (
  • plays a role in the cytoplasm in sorting proteins to the multivesicular body (MVB)
  • may serves as a critical link between cytoplasmic signals and BMI1-mediated chromatin modifications that regulate proliferation of central nervous system progenitor cells
  • possible role for CHMP1A in mediating BMI1-directed epigenetic silencing at the CDKN2A promoter but not at the ARF promoter
  • is a potentially crucial link between cytoplasmic signals and the global regulation of stem cells via the Polycomb complex
  • is required for progenitor proliferation in mouse cortex and cerebellum and progenitor maintenance in human cerebral organoids
  • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS
    text vesicle-mediated transport
    PATHWAY
    metabolism
    signaling
    ESCRT-III (CHMP) proteins pathhway
    a component
  • component of the ESCRT-III complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • targeting the Polycomb group (PcG) protein PCGF4/BMI1 to regions of condensed chromatin
  • binding partner of the Polycomb group protein Pcl (Polycomblike)
  • essential central nervous system regulator of BMI1, which in turn is a key regulator of stem cell self-renewal
  • a tandem MIT domain of VTA1, can bind MIM elements within both CHMP1A and IST1, implying that the complexes probably interact directly in cells
  • cell & other
    REGULATION
    induced by muristerone
    ASSOCIATED DISORDERS
    corresponding disease(s) PCH8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in various human pancreatic tumors
    tumoral     --low  
    in renal cell carcinoma, and renal tumor cells compared with adjacent non-tumorous tissues and normal renal cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    may be a useful target for treatment of renal cell carcinoma
    ANIMAL & CELL MODELS