Reviewed, UniProtKB/Swiss-Prot Q9UBM1 (PEMT_HUMAN)

Names and origin

Protein names

Recommended name:
    Phosphatidylethanolamine N-methyltransferase
      Short name=PEAMT
      Short name=PEMT
    EC=2.1.1.17
Alternative name(s):
    PEMT2

Gene names

Name:	PEMT
Synonyms:	PEMPT, PNMT

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	199 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Catalyzes three sequential methylation of phosphatidylethanolamine (PE) by AdoMet, thus producing phosphatidylcholine (PC).
Catalytic activity	S-adenosyl-L-methionine + phosphatidylethanolamine = S-adenosyl-L-homocysteine + phosphatidyl-N-methylethanolamine.
Enzyme regulation	The first methylation is rate-limiting.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Potential. Mitochondrion membrane; Multi-pass membrane protein Potential. Note: Found in endoplasmic reticulum where most PEMT activity is generated and in mitochondria By similarity.
Involvement in disease	Deletion of PEMT may be related to liver cancer.
Sequence similarities	Belongs to the PEMT/PEM2 methyltransferase family.

Ontologies

Keywords
Biological process	Phospholipid biosynthesis
Cellular component	Endoplasmic reticulum Membrane Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Ligand	S-adenosyl-L-methionine
Molecular function	Methyltransferase Transferase
Gene Ontology (GO)
Biological process	cell proliferation Ref.1 Traceable author statement. Source: ProtInc phosphatidylcholine biosynthetic process Ref.1 Traceable author statement. Source: ProtInc
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	phosphatidylethanolamine N-methyltransferase activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UBM1-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9UBM1-2) The sequence of this isoform differs from the canonical sequence as follows:      1-1: M → MKRSGNPGAEVTNSSVAGPDCCGGLGNIDFRQADFCVM
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Natural variant	11	1	V → A

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 199	198	Phosphatidylethanolamine N-methyltransferase		PRO_0000193920
Regions
	Transmembrane	13 – 33	21	Potential
	Transmembrane	46 – 66	21	Potential
	Transmembrane	94 – 114	21	Potential
	Transmembrane	158 – 178	21	Potential
Natural variations
	Alternative sequence	1	1	M → MKRSGNPGAEVTNSSVAGPD CCGGLGNIDFRQADFCVM in isoform 2.		VSP_037311
	Natural variant	3	1	R → W		VAR_055372
	Natural variant	58	1	V → I: dbSNP rs897453. Ref.4		VAR_032771
	Natural variant	175	1	V → M: dbSNP rs7946. Ref.4 Ref.1 Ref.2		VAR_016093
	Natural variant	194	1	G → R		VAR_055373

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 12, 2007. Version 4. Checksum: 98C07AB54B3B4E6A	FASTA	199	22,134
	10 20 30 40 50 60 MTRLLGYVDP LDPSFVAAVI TITFNPLYWN VVARWEHKTR KLSRAFGSPY LACYSLSVTI 70 80 90 100 110 120 LLLNFLRSHC FTQAMLSQPR MESLDTPAAY SLGLALLGLG VVLVLSSFFA LGFAGTFLGD 130 140 150 160 170 180 YFGILKEARV TVFPFNILDN PMYWGSTANY LGWAIMHASP TGLLLTVLVA LTYIVALLYE 190 EPFTAEIYRQ KASGSHKRS
	Isoform 2. Checksum: 024AEDF227E93FEE	FASTA	236	25,890
	10 20 30 40 50 60 MKRSGNPGAE VTNSSVAGPD CCGGLGNIDF RQADFCVMTR LLGYVDPLDP SFVAAVITIT 70 80 90 100 110 120 FNPLYWNVVA RWEHKTRKLS RAFGSPYLAC YSLSVTILLL NFLRSHCFTQ AMLSQPRMES 130 140 150 160 170 180 LDTPAAYSLG LALLGLGVVL VLSSFFALGF AGTFLGDYFG ILKEARVTVF PFNILDNPMY 190 200 210 220 230 WGSTANYLGW AIMHASPTGL LLTVLVALTY IVALLYEEPF TAEIYRQKAS GSHKRS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of three novel cDNAs for human phosphatidylethanolamine N-methyltransferase and localization of the human gene on chromosome 17p11.2." Walkey C.J., Shields D.J., Vance D.E. Biochim. Biophys. Acta 1436:405-412(1999) [PubMed: 9989271] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-175. Tissue: Liver.
[2]	"Structure, expression profile and alternative processing of the human phosphatidylethanolamine N-methyltransferase (PEMT) gene." Shields D.J., Agellon L.B., Vance D.E. Biochim. Biophys. Acta 1532:105-114(2001) [PubMed: 11420179] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-175.
[3]	"Homo sapiens phosphatidylethanolamine N-methyltransferase mRNA." Maeda E., Watanabe M., Wang J., Kasuga M. Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ILE-58 AND MET-175. Tissue: Liver.
[4]	"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L. Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed: 10931946] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Hypothalamus.
[5]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ILE-58 AND MET-175.
[6]	NIEHS SNPs program Submitted (MAR-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TRP-3; ILE-58; MET-175 AND ARG-194 (ISOFORM 1), VARIANT ALA-11 (ISOFORM 2).
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ILE-58 AND MET-175. Tissue: Brain and Skin.
[8]	"Phosphatidylethanolamine N-methyltransferase (PEMT) gene expression is induced by estrogen in human and mouse primary hepatocytes." Resseguie M., Song J., Niculescu M.D., da Costa K.A., Randall T.A., Zeisel S.H. FASEB J. 21:2622-2632(2007) [PubMed: 17456783] [Abstract] Cited for: ALTERNATIVE SPLICING.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF176807 mRNA. Translation: AAD53292.1. AF176806 mRNA. Translation: AAD53291.1. AF294468 , AF294463, AF294464, AF294465, AF294466, AF294467 Genomic DNA. Translation: AAK19172.1. AB029821 mRNA. Translation: BAA82407.1. AF113126 mRNA. Translation: AAF14867.1. Different initiation. CR457099 mRNA. Translation: CAG33380.1. EU574003 Genomic DNA. Translation: ACB21050.1. BC000557 mRNA. Translation: AAH00557.1. BC050593 mRNA. Translation: AAH50593.1.
IPI	IPI00328909.
RefSeq	NP_009100.2. NP_680477.1. NP_680478.1.
UniGene	Hs.287717
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000133027. Homo sapiens. [Contig view]
GeneID	10400.
KEGG	hsa:10400.
Organism-specific databases
GeneCards	GC17M017349.
HGNC	HGNC:8830. PEMT.
MIM	602391. gene.
PharmGKB	PA33175.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9UBM1.
Enzyme and pathway databases
BRENDA	2.1.1.17. 247.
Gene expression databases
ArrayExpress	Q9UBM1.
Bgee	Q9UBM1.
CleanEx	HS_PEMT.
GermOnline	ENSG00000133027. Homo sapiens.
Family and domain databases
InterPro	IPR007318. PEMT. [Graphical view]
PANTHER	PTHR15458. PEMT. 1 hit.
Pfam	PF04191. PEMT. 1 hit. [Graphical view]
PIRSF	PIRSF005444. PEMT. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	39408.
SOURCE	Search...

Entry information

Entry name

PEMT_HUMAN

Accession

Primary (citable) accession number: Q9UBM1
Secondary accession number(s): Q6IAQ5 , Q86VL3, Q9BW86, Q9UHY6, Q9Y6V9

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	June 12, 2007
Last modified:	May 26, 2009
This is version 67 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)