PCMT1 Back

protein-L-isoaspartate (D-aspartate) O-methyltransferase

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NCBI Description of PCMT1

This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Community Annotation of PCMT1 Add / Edit PCMT1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PCMT1 is highly significantly mutated in
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PCMT1 is significantly mutated in
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PCMT1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for PCMT1