Gene: PEMT

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)