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Pcmt1 Gene Detail
Summary
  • Symbol
    Pcmt1
  • Name
    protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
  • Synonyms
    PIMT, protein carboxyl methyltransferase
  • Feature Type
    protein coding gene
  • IDs
    MGI:97502
    NCBI Gene: 18537
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:7505137-7556900 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 2.26 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1272 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97502
 protein coding gene Chr10:7503608-7556922 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016995
 protein coding gene Chr10:4843258-4901943 (-)
A/J MGP_AJ_G0016973
 protein coding gene Chr10:4607326-4658628 (-)
AKR/J MGP_AKRJ_G0016937
 protein coding gene Chr10:4691066-4747654 (-)
BALB/cJ MGP_BALBcJ_G0016931
 protein coding gene Chr10:4581849-4632164 (-)
C3H/HeJ MGP_C3HHeJ_G0016756
 protein coding gene Chr10:4807681-4880650 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017393
 protein coding gene Chr10:4947507-5011541 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015098
 protein coding gene Chr10:4200142-4250152 (-)
CAST/EiJ MGP_CASTEiJ_G0016338
 protein coding gene Chr10:4734614-4787162 (-)
CBA/J MGP_CBAJ_G0016728
 protein coding gene Chr10:5102354-5161848 (-)
DBA/2J MGP_DBA2J_G0016836
 protein coding gene Chr10:4540182-4589927 (-)
FVB/NJ MGP_FVBNJ_G0016831
 protein coding gene Chr10:4485376-4536954 (-)
LP/J MGP_LPJ_G0016911
 protein coding gene Chr10:4689885-4745676 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016861
 protein coding gene Chr10:5076073-5130204 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017431
 protein coding gene Chr10:4636980-4700383 (-)
PWK/PhJ MGP_PWKPhJ_G0016123
 protein coding gene Chr10:4510476-4560575 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015905
 protein coding gene Chr10:4725926-4780733 (-)
WSB/EiJ MGP_WSBEiJ_G0016400
 protein coding gene Chr10:4645646-4700630 (-)



Homology
more
  • Human Ortholog
    PCMT1, protein-L-isoaspartate (D-aspartate) O-methyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCMT1, protein-L-isoaspartate (D-aspartate) O-methyltransferase
  • Synonyms
    PIMT
  • Links
    NCBI Gene ID: 5110
    neXtProt AC: NX_P22061
    UniProt: P22061

  • Chr Location
    6q25.1; chr6:149749444-149811421 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 2 alleles in 2 genetic backgrounds
    31 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous disruption of this gene causes accumulation of modified proteins, growth retardation and fatal epileptic seizures. Homozygotes for one null allele also show a small spleen, altered lipid, hormone, mineral and enzyme profiles, kyphosis, enlarged brain and abnormal dendritic arborizations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000019795 Ensembl Gene Model | MGI Sequence Detail 51764 C57BL/6J ±  kb
    transcript ENSMUST00000162606 Ensembl | MGI Sequence Detail 2757 Not Applicable  
    polypeptide ENSMUSP00000123866 Ensembl | MGI Sequence Detail 228 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000012420 protein-L-isoaspartate(D-aspartate) O-methyltransferase
      (term hierarchy)
    • EC
      2.1.1.77
    • InterPro Domains
      IPR000682 Protein-L-isoaspartate(D-aspartate) O-methyltransferase
      IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily
    • GlyGen
      P23506 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 7
      cDNA 21
      Other 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-13176, MGI:2143926
    References
    more
    • Summaries
      All 65
      Gene Ontology 7
      Phenotypes 31
    • Earliest
      J:2260 Romanik EA, et al., Genomic organization and tissue expression of the murine gene encoding the protein beta-aspartate methyltransferase. Gene. 1992 Sep 10;118(2):217-22
    • Latest
      J:344407 Ling Z, et al., Protective role of madecassoside from Centella asiatica against protein L-isoaspartyl methyltransferase deficiency-induced neurodegeneration. Neuropharmacology. 2024 Jan 3;246:109834
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/03/2024
    MGI 6.24     		The Jackson Laboratory