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Protein Coding Gene : Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1

Primary Identifier  MGI:97502 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  18537
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Acts upstream of or within protein methylation. Predicted to be located in several cellular components, including basolateral plasma membrane; brush border membrane; and perikaryon. Predicted to be active in cytoplasm. Orthologous to human PCMT1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • MGI:2143926,
  • protein-L-isoaspartate (D-aspartate) O-methyltransferase 1,
  • PIMT,
  • C79501,
  • expressed sequence C79501,
  • Pcmt1,
  • protein carboxyl methyltransferase,
  • MGD-MRK-13176

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

4 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

2 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For