Tag | Content |
---|---|
Uniprot ID | Q9UBM1; A8MZ66; B4DY41; D3DXC3; Q6IAQ5; Q86VL3; Q9BW86; Q9UHY6; Q9Y6V9; |
Entrez ID | 10400 |
Genbank protein ID | CAG33380.1; AAK19172.1; BAG63603.1; AAD53292.1; AAH50593.1; AAF14867.1; AAH00557.1; EAW55701.1; ACB21050.1; BAA82407.1; EAW55702.1; AAD53291.1; |
Genbank nucleotide ID | NM_148173.1; NM_001267551.1; NM_001267552.1; NM_007169.2; NM_148172.2; |
Ensembl protein ID | ENSP00000379129; ENSP00000255389; ENSP00000379127; ENSP00000379128; |
Ensembl nucleotide ID | ENSG00000133027 |
Gene name | Phosphatidylethanolamine N-methyltransferase |
Gene symbol | PEMT |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Manually collected |
Reference | 20662904 |
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 | MTRLLGYVDP LDPSFVAAVI TITFNPLYWN VVARWEHKTR KLSRAFGSPY LACYSLSVTI 60 LLLNFLRSHC FTQAMLSQPR MESLDTPAAY SLGLALLGLG VVLVLSSFFA LGFAGTFLGD 120 YFGILKEARV TVFPFNILDN PMYWGSTANY LGWAIMHASP TGLLLTVLVA LTYIVALLYE 180 EPFTAEIYRQ KASGSHKRS 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.