CleftGeneDB-Search

Gene: Pemt

Basic information

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PEMT	rs12325817C>G	PCR-RFLP	20662904

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

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:Biological Process

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:Cellular Component

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 Pathway

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

Functional annotations

Keywords

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

Interpro

InterPro ID	InterPro Term
IPR024960	PEMT/MFAP
IPR007318	Phopholipid_MeTrfase

PROSITE

PROSITE ID	PROSITE Term
PS51599	SAM_PEMT_PEM2

Pfam

Pfam ID	Pfam Term
PF04191	PEMT