PEMT
Phosphatidylethanolamine N-methyltransferase
Also known as: PEMPT, PEMT_HUMAN, PEMT2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UBM1
- Gene
- PEMT
- Ensembl
- ENSG00000133027
- Chromosome
- 17
- Canonical length
- 199 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum,Vesicles,Mitochondria,Cytosol
OverviewNCBI Gene
Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
Canonical amino-acid sequenceUniProt
199 residues, UniProt reviewed canonical sequence.
>Q9UBM1|PEMT
1 MTRLLGYVDP LDPSFVAAVI TITFNPLYWN VVARWEHKTR KLSRAFGSPY LACYSLSVTI
61 LLLNFLRSHC FTQAMLSQPR MESLDTPAAY SLGLALLGLG VVLVLSSFFA LGFAGTFLGD
121 YFGILKEARV TVFPFNILDN PMYWGSTANY LGWAIMHASP TGLLLTVLVA LTYIVALLYE
181 EPFTAEIYRQ KASGSHKRSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PEMT 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
- Other membrane
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 259 nTPM
Expression across tissuesHPA
Tissue
- liver: 259 nTPM
- epididymis: 157 nTPM
- breast: 91 nTPM
- adipose tissue: 67 nTPM
- cervix: 42 nTPM
- testis: 40 nTPM
Single-cell type
- epididymal principal cells: 958 nCPM
- decidual stromal cells: 440 nCPM
- epididymal efferent duct absorptive cells: 376 nCPM
- peritubular myoid cells: 361 nCPM
- hepatocytes: 272 nCPM
- pancreatic islet cells: 232 nCPM
Immune cell
- classical monocyte: 41 nTPM
- intermediate monocyte: 39 nTPM
- myeloid DC: 31 nTPM
- NK-cell: 29 nTPM
- naive B-cell: 28 nTPM
- non-classical monocyte: 28 nTPM
Brain region
- pons: 24 nTPM
- white matter: 24 nTPM
- cerebellum: 22 nTPM
- midbrain: 21 nTPM
- hypothalamus: 20 nTPM
- spinal cord: 20 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)
- 0.67
- gnomAD pLI
- 0.23
- gnomAD missense Z
- -0.11
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blastocyst hatching
- methylation
- phosphatidylcholine biosynthetic process
- positive regulation of cold-induced thermogenesis
- sphingomyelin biosynthetic process
Molecular functions
- phosphatidyl-N-methylethanolamine N-methyltransferase activity
- phosphatidylethanolamine N-methyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Phospholipid methyltransferase
- Phosphatidyl-N-methylethanolamine/Phosphatidylethanolamine N-methyltransferase
- Phospholipid methyltransferase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PEMT as an antibody target. Whether an autoantibody or antibody against PEMT could matter depends on whether native PEMT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PEMT 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 PEMT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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