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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
Location 6q24-q25      Physical location : 150.070.830 - 150.132.556
Synonym name L-isoaspartyl/D-aspartyl methyltransferase
EC.number 2.1.1.77
DNA
TYPE functioning gene
STRUCTURE 61.00 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D6S471 - D6S311 - D6S1564 - PCMT1 - D6S1687 - D6S420 - qter
Authors DeVry (99)
RNA
TRANSCRIPTS type messenger
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