Aliases for PCMT1 Gene
External Ids for PCMT1 Gene
Previous GeneCards Identifiers for PCMT1 Gene
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. [provided by RefSeq, Oct 2011]
GeneCards Summary for PCMT1 Gene
PCMT1 (Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase) is a Protein Coding gene. Diseases associated with PCMT1 include Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema and Type 1 Diabetes Mellitus 5. Among its related pathways are Protein repair and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include S-adenosylmethionine-dependent methyltransferase activity and protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. An important paralog of this gene is PCMTD1.
UniProtKB/Swiss-Prot Summary for PCMT1 Gene
Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein and alpha-synuclein.