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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)
Physical map
SASH1 6q24.3 formyltetrahydrofolate synthetase domain containing 1 LOC340151 6q24.3 similar to laminin receptor 1 (ribosomal protein SA); P40-3, functional; P40-8, functional; laminin receptor 1 (67kD, ribosomal protein SA) UST 6q24.3-q25.1 uronyl-2-sulfotransferase MAP3K7IP2 6q25.1-q25.3 mitogen-activated protein kinase kinase kinase 7 interacting protein 2 LOC340152 6q24.3 similar to hypothetical protein D730019B10 PPIL4 6q24-q25 peptidylprolyl isomerase (cyclophilin)-like 4 C6orf72 6q24.3 chromosome 6 open reading frame 72 LOC389433 6 LOC389433 KATNA1 6q25.1 katanin p60 (ATPase-containing) subunit A 1 LATS1 6q24-q25.1 LATS, large tumor suppressor, homolog 1 (Drosophila) NUP43 6q24.3 nucleoporin 43kDa PCMT1 6q22.3-q24 protein-L-isoaspartate (D-aspartate) O-methyltransferase LRP11 6q24.3 low density lipoprotein receptor-related protein 11 RAET1E 6q25 retinoic acid early transcript 1E ULBP2 6q25 UL16 binding protein 2 ULBP1 6q25 UL16 binding protein 1 LOC345829 6q24.3 similar to Transcription factor BTF3 (RNA polymerase B transcription factor 3) LOC391980 6 similar to UL16 binding protein 1; alcan-beta RAET1L 6q25 retinoic acid early transcript 1L PHBP1 6q25 prohibitin pseudogene 1 ULBP3 6q25 UL16 binding protein 3 PPP1R14C 6q24.3-q25.3 protein phosphatase 1, regulatory (inhibitor) subunit 14C RNU4P1 6q25.1 RNA, U4 small nuclear pseudogene 1 (U4/7) LOC389434 6 similar to iodotyrosine dehalogenase protein PLEKHG1 6q25.1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 FTHFSDC1 6q25.1 formyltetrahydrofolate synthetase domain containing 1
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