Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5110
Gene name Gene Name - the full gene name approved by the HGNC.
Protein-L-isoaspartate (D-aspartate) O-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCMT1
Synonyms (NCBI Gene) Gene synonyms aliases
PIMT
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.1
Summary Summary of gene provided in NCBI Entrez 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 bac
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031439 hsa-miR-16-5p Proteomics 18668040
MIRT038565 hsa-miR-106b-3p CLASH 23622248
MIRT037052 hsa-miR-877-3p CLASH 23622248
MIRT037052 hsa-miR-877-3p CLASH 23622248
MIRT555811 hsa-miR-4782-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004719 Function Protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IBA
GO:0004719 Function Protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IDA 3167043
GO:0004719 Function Protein-L-isoaspartate (D-aspartate) O-methyltransferase activity IEA
GO:0004719 Function Protein-L-isoaspartate (D-aspartate) O-methyltransferase activity TAS 8074695
GO:0005515 Function Protein binding IPI 25416956, 28514442, 32296183, 32814053, 32838362, 33961781, 34232536
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176851 8728 ENSG00000120265
Protein
UniProt ID P22061
Protein name Protein-L-isoaspartate(D-aspartate) O-methyltransferase (PIMT) (EC 2.1.1.77) (L-isoaspartyl protein carboxyl methyltransferase) (Protein L-isoaspartyl/D-aspartyl methyltransferase) (Protein-beta-aspartate methyltransferase)
Protein function Initiates the repair of damaged proteins by catalyzing methyl esterification of L-isoaspartyl and D-aspartyl residues produced by spontaneous isomerization and racemization of L-aspartyl and L-asparaginyl residues in aging peptides and proteins
PDB 1I1N , 1KR5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01135 PCMT 8 221 Family
Sequence
Sequence length 227
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Protein repair
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lymphoblastic Leukemia Acute lymphoblastic leukemia Genome-wide CRISPR/Cas9 library screen identifies PCMT1 as a critical driver of ovarian cancer metastasis 35033172 CBGDA
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 21372823
Alzheimer Disease Inhibit 32705859
Ataxia Telangiectasia Associate 37994408
Blood Platelet Disorders Associate 22486984
Breast Neoplasms Associate 34868337, 35535040, 37953789
Carcinoma Hepatocellular Associate 25119594
Central Nervous System Infections Associate 29856810
Conversion Disorder Associate 28100787
Epilepsy Inhibit 12390520
Epilepsy Associate 12390520, 28100787, 29856810