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25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
Chromosome 6 · 6q25.1
NCBI Gene: 5110Ensembl: ENSG00000120265.21HGNC: HGNC:8728UniProt: A0A384MDK7
224PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein bindingcadherin bindingextracellular vesicleneurodegenerative diseasemigraine disorderneoplasmbreast cancer
✦AI Summary

PCMT1 encodes protein-L-isoaspartate (D-aspartate) O-methyltransferase, a highly conserved enzyme that repairs damaged proteins by catalyzing methyl esterification of abnormal L-isoaspartyl and D-aspartyl residues that form spontaneously in aging proteins 1. The enzyme functions both intracellularly and extracellularly, with unconventional secretion allowing repair of extracellular matrix proteins 1. PCMT1's repair activity requires S-adenosylmethionine as a methyl donor and is crucial for maintaining protein homeostasis 2. In disease contexts, PCMT1 exhibits complex roles across cancers. It promotes metastasis in ovarian and breast cancers by enhancing cell migration, adhesion, and invasion through interactions with extracellular matrix proteins like LAMB3 and activation of integrin-FAK-Src signaling 34. High PCMT1 expression correlates with poor prognosis and increased tumor progression in multiple cancer types 56. However, PCMT1 also demonstrates protective functions, particularly in kidney fibrosis where it prevents TGF-β receptor 2 deamidation and subsequent fibrotic signaling 1. Additionally, PCMT1 genetic variants influence neural tube defect risk, with Val120Val genotype conferring protection against spina bifida 7. The enzyme's dual roles highlight its importance in both protein repair and disease pathogenesis.

Sources cited
1
PCMT1 repairs damaged proteins by methylating abnormal aspartyl residues and functions extracellularly
PMID: 40036072
2
PCMT1 requires S-adenosylmethionine for its repair activity
PMID: 39641635
3
PCMT1 promotes ovarian cancer metastasis through ECM interactions and FAK-Src signaling
PMID: 35033172
4
PCMT1 contributes to breast cancer metastasis and cell invasion
PMID: 39267673
5
High PCMT1 expression correlates with poor prognosis in breast cancer
PMID: 35535040
6
PCMT1 promotes breast cancer cell proliferation and invasion
PMID: 36639265
7
PCMT1 Val120Val genotype is associated with reduced spina bifida risk
PMID: 16256389
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
migraine disorderOpen Targets
0.14Weak
neoplasmOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.05Suggestive
Generalized epilepsy with febrile seizures-plusOpen Targets
0.05Suggestive
autosomal dominant epilepsy with auditory featuresOpen Targets
0.05Suggestive
triple-negative breast cancerOpen Targets
0.05Suggestive
generalised epilepsyOpen Targets
0.05Suggestive
Testicular Germ Cell TumorOpen Targets
0.05Suggestive
temporal lobe epilepsyOpen Targets
0.04Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
hypertrophic cardiomyopathyOpen Targets
0.04Suggestive
benign familial infantile epilepsyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ALDH16A1Protein interaction79%MSRB3Shared pathway50%MSRB1Shared pathway33%MSRB2Shared pathway33%MSRAShared pathway20%PARK7Shared pathway3%
Tissue Expression6 tissues
Brain
100%
Heart
67%
Bone Marrow
20%
Liver
19%
Lung
17%
Ovary
13%
Gene Interaction Network
Click a node to explore
PCMT1ALDH16A1MSRB3MSRB1MSRB2MSRAPARK7
PROTEIN STRUCTURE
Preparing viewer…
PDB1I1N · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.73Intermediate
Observed/Expected LoF0.28 [0.13–0.72]
RankingsWhere PCMT1 stands among ~20K protein-coding genes
  • #1,818of 20,598
    Most Researched224 · top 10%
  • #5,512of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedPCMT1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Genome-wide CRISPR/Cas9 library screen identifies PCMT1 as a critical driver of ovarian cancer metastasis.
PMID: 35033172
J Exp Clin Cancer Res · 2022
1.00
2
Repair of Isoaspartyl Residues by PCMT1 and Kidney Fibrosis.
PMID: 40036072
J Am Soc Nephrol · 2025
0.90
3
A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.
PMID: 16256389
Mol Genet Metab · 2006
0.80
4
Structural basis for L-isoaspartyl-containing protein recognition by the human PCMTD1 cullin-RING E3 ubiquitin ligase.
PMID: 40975169
J Biol Chem · 2025
0.76
5
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
PMID: 39152475
Mol Neurodegener · 2024
0.72