PCMT1
Protein-L-isoaspartate(D-aspartate) O-methyltransferase
Also known as: PIMT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P22061
- Gene
- PCMT1
- Ensembl
- ENSG00000120265
- Chromosome
- 6
- Canonical length
- 227 aa
- Protein class
- Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
227 residues, UniProt reviewed canonical sequence.
>P22061|PCMT1
1 MAWKSGGASH SELIHNLRKN GIIKTDKVFE VMLATDRSHY AKCNPYMDSP QSIGFQATIS
61 APHMHAYALE LLFDQLHEGA KALDVGSGSG ILTACFARMV GCTGKVIGID HIKELVDDSV
121 NNVRKDDPTL LSSGRVQLVV GDGRMGYAEE APYDAIHVGA AAPVVPQALI DQLKPGGRLI
181 LPVGPAGGNQ MLEQYDKLQD GSIKMKPLMG VIYVPLTDKE KQWSRWKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PCMT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 207 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 207 nTPM
- tongue: 159 nTPM
- cerebral cortex: 142 nTPM
- heart muscle: 119 nTPM
- basal ganglia: 95 nTPM
- hypothalamus: 89 nTPM
Single-cell type
- early spermatids: 1,214 nCPM
- late spermatids: 616 nCPM
- neutrophil progenitors: 537 nCPM
- late primary spermatocytes: 415 nCPM
- oocytes: 373 nCPM
- neutrophils: 300 nCPM
Immune cell
- total PBMC: 212 nTPM
- classical monocyte: 201 nTPM
- non-classical monocyte: 193 nTPM
- intermediate monocyte: 189 nTPM
- eosinophil: 187 nTPM
- myeloid DC: 184 nTPM
Brain region
- cerebral cortex: 140 nTPM
- pons: 126 nTPM
- hypothalamus: 125 nTPM
- basal ganglia: 122 nTPM
- medulla oblongata: 112 nTPM
- white matter: 109 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.46
- gnomAD pLI
- 0.78
- gnomAD missense Z
- 1.9
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PCMT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PCMT1 as an antibody target. Whether an autoantibody or antibody against PCMT1 could matter depends on whether native PCMT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PCMT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PCMT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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