Gene Gene information from NCBI Gene database.
Entrez ID 5110
Gene name Protein-L-isoaspartate (D-aspartate) O-methyltransferase
Gene symbol PCMT1
Synonyms (NCBI Gene)
PIMT
Chromosome 6
Chromosome location 6q25.1
Summary 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.
267
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176851 8728 ENSG00000120265
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MIGRAINE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 21372823 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32705859 Inhibit
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly BEFREE 22647835
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 37994408 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 29517839
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 22486984 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34868337, 35535040, 37953789 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25119594 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 29517839
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 29772707
★☆☆☆☆
Found in Text Mining only