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FLASH GENE
Symbol PCMT1 contributors: - updated : 08-03-2006
HGNC name protein-L-isoaspartate (D-aspartate) O-methyltransferase
HGNC id 8728
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestivemouthtongue  highly
Skin/Tegumentskin   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer monomer
HOMOLOGY
interspecies ortholog to murine Pcmt1
ortholog to rattus pcmt1
Homologene
FAMILY l-isoaspartyl/d-aspartyl protein methyltransferase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
basic FUNCTION
  • protein repair enzyme initiating the conversion of abnormal D-aspartyl and L-isoaspartyl residues to the normal L-aspartyl form
  • playing a role in the repair and/or degradation of damaged proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to neural tube defect
    Variant & Polymorphism other polymorphism (Ile120Val)associated with an increased risk of folate-responsive neural tube defect (genetic modifier for the risk of spina bifida)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS