| Tag | Content |
|---|---|
| Uniprot ID | Q61907; Q3UZN8; Q7TNW6; Q8R0I1; |
| Entrez ID | 18618 |
| Genbank protein ID | BAE21818.1; AAQ01190.1; AAH26796.1; AAA67686.1; |
| Genbank nucleotide ID | NM_001290013.1; NM_001290014.1; NM_001290011.1; NM_008819.3; NM_001290012.1; |
| Ensembl protein ID | ENSMUSP00000099754; ENSMUSP00000099753; ENSMUSP00000000310; |
| Ensembl nucleotide ID | ENSMUSG00000000301 |
| Gene name | Phosphatidylethanolamine N-methyltransferase |
| Gene symbol | Pemt |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC). |
| Sequence | MSWLLGYMDP TEPSFVAAVI TIVFNPLFWN VVARWEQRTR KLSRAFGSPH LACYSLGICI 60 LLLNILRSHC FTQAMMSQPK MEGLDNHTTY FLGLAFLGWG FVFVLSSFYA LGFTGTFLGD 120 YFGILKESRV TTFPFSVLDN PMYWGSTANY LGWALMHASP TGLLLTVLVA IVYVVALLYE 180 EPFTAEIYRQ KATRLHKRS 199 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | PEMT | 479526 | J9P3L9 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | PEMT | 102170908 | A0A452DY36 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | PEMT | 10400 | Q9UBM1 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Pemt | 18618 | Q61907 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | PEMT | 454478 | H2QCD5 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | PEMT | 397654 | Q7YRH5 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | Pemt | 25511 | Q08388 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| PEMT | rs12325817C>G | PCR-RFLP | 20662904 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000773 | phosphatidyl-N-methylethanolamine N-methyltransferase activity | IEA |
| GO:0004608 | phosphatidylethanolamine N-methyltransferase activity | ISO |
| GO:0004608 | phosphatidylethanolamine N-methyltransferase activity | IBA |
| GO:0004608 | phosphatidylethanolamine N-methyltransferase activity | ISS |
| GO:0008429 | phosphatidylethanolamine binding | ISO |
| GO:0008757 | S-adenosylmethionine-dependent methyltransferase activity | ISO |
| GO:0008757 | S-adenosylmethionine-dependent methyltransferase activity | IMP |
| GO:0080101 | phosphatidyl-N-dimethylethanolamine N-methyltransferase activity | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001835 | blastocyst hatching | IMP |
| GO:0006650 | glycerophospholipid metabolic process | ISO |
| GO:0006656 | phosphatidylcholine biosynthetic process | IEA |
| GO:0006656 | phosphatidylcholine biosynthetic process | ISO |
| GO:0006656 | phosphatidylcholine biosynthetic process | IBA |
| GO:0006656 | phosphatidylcholine biosynthetic process | ISS |
| GO:0006686 | sphingomyelin biosynthetic process | IMP |
| GO:0008285 | negative regulation of cell population proliferation | ISO |
| GO:0032259 | methylation | IEA |
| GO:0033273 | response to vitamin | ISO |
| GO:0042493 | response to drug | ISO |
| GO:0046498 | S-adenosylhomocysteine metabolic process | ISO |
| GO:0046500 | S-adenosylmethionine metabolic process | ISO |
| GO:0050747 | positive regulation of lipoprotein metabolic process | ISO |
| GO:0120162 | positive regulation of cold-induced thermogenesis | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005739 | mitochondrion | HDA |
| GO:0005740 | mitochondrial envelope | TAS |
| GO:0005789 | endoplasmic reticulum membrane | IDA |
| GO:0016020 | membrane | ISO |
| GO:0016021 | integral component of membrane | IEA |
| GO:0031526 | brush border membrane | ISO |
| GO:0031966 | mitochondrial membrane | IEA |
| GO:0042383 | sarcolemma | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1430728 | Metabolism | IEA |
| R-MMU-1483191 | Synthesis of PC | IEA |
| R-MMU-1483206 | Glycerophospholipid biosynthesis | IEA |
| R-MMU-1483257 | Phospholipid metabolism | IEA |
| R-MMU-556833 | Metabolism of lipids | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-0256 | Endoplasmic reticulum |
| KW-0444 | Lipid biosynthesis |
| KW-0443 | Lipid metabolism |
| KW-0472 | Membrane |
| KW-0489 | Methyltransferase |
| KW-0496 | Mitochondrion |
| KW-0594 | Phospholipid biosynthesis |
| KW-1208 | Phospholipid metabolism |
| KW-1185 | Reference proteome |
| KW-0949 | S-adenosyl-L-methionine |
| KW-0808 | Transferase |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| PROSITE ID | PROSITE Term |
|---|---|
| PS51599 | SAM_PEMT_PEM2 |
| Pfam ID | Pfam Term |
|---|---|
| PF04191 | PEMT |