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Q9UBM1 (PEMT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Phosphatidylethanolamine N-methyltransferase

Short name=PEAMT
Short name=PEMT
EC=2.1.1.17
EC=2.1.1.71
Alternative name(s):
PEMT2
Gene names
Name:PEMT
Synonyms:PEMPT, PNMT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length199 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Catalyzes three sequential methylation reactions of phosphatidylethanolamine (PE) by AdoMet, thereby producing phosphatidylcholine (PC).

Catalytic activity

S-adenosyl-L-methionine + phosphatidyl-N-methylethanolamine = S-adenosyl-L-homocysteine + phosphatidyl-N-dimethylethanolamine.

S-adenosyl-L-methionine + phosphatidyl-N-dimethylethanolamine = S-adenosyl-L-homocysteine + phosphatidylcholine.

S-adenosyl-L-methionine + phosphatidylethanolamine = S-adenosyl-L-homocysteine + phosphatidyl-N-methylethanolamine.

Enzyme regulation

The first methylation is rate-limiting.

Pathway

Phospholipid metabolism; phosphatidylcholine biosynthesis.

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.

Sequence similarities

Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family.

Sequence caution

The sequence AAF14867.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processLipid biosynthesis
Lipid metabolism
Phospholipid biosynthesis
Phospholipid metabolism
   Cellular componentEndoplasmic reticulum
Membrane
Mitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   LigandS-adenosyl-L-methionine
   Molecular functionMethyltransferase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell proliferation

Traceable author statement Ref.1. Source: ProtInc

glycerophospholipid biosynthetic process

Traceable author statement. Source: Reactome

lipid metabolic process

Traceable author statement Ref.1. Source: ProtInc

phosphatidylcholine biosynthetic process

Traceable author statement. Source: Reactome

phospholipid metabolic process

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrial membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionphosphatidyl-N-dimethylethanolamine N-methyltransferase activity

Inferred from electronic annotation. Source: UniProtKB-EC

phosphatidyl-N-methylethanolamine N-methyltransferase activity

Inferred from electronic annotation. Source: UniProtKB-EC

phosphatidylethanolamine N-methyltransferase activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 3 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
Isoform 3 (identifier: Q9UBM1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKRSGNPGAEVTNSSVAGPDCCGGLGNIDFRQADFCVM
     156-199: MHASPTGLLL...QKASGSHKRS → IPAPAGAVGS...GSPIRRALHR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 199198Phosphatidylethanolamine N-methyltransferase
PRO_0000193920

Regions

Transmembrane13 – 3321Helical; Potential
Transmembrane46 – 6621Helical; Potential
Transmembrane94 – 11421Helical; Potential
Transmembrane158 – 17821Helical; Potential

Natural variations

Alternative sequence11M → MKRSGNPGAEVTNSSVAGPD CCGGLGNIDFRQADFCVM in isoform 2 and isoform 3.
VSP_037311
Alternative sequence156 – 19944MHASP…SHKRS → IPAPAGAVGSEARQPHGPAP DGAGGPHLHSGSPIRRALHR in isoform 3.
VSP_046034
Natural variant31R → W. Ref.7
Corresponds to variant rs70959686 [ dbSNP | Ensembl ].
VAR_055372
Natural variant581V → I. Ref.3 Ref.5 Ref.6 Ref.7 Ref.10
Corresponds to variant rs897453 [ dbSNP | Ensembl ].
VAR_032771
Natural variant581V → L.
Corresponds to variant rs897453 [ dbSNP | Ensembl ].
VAR_060083
Natural variant1751V → M. Ref.1 Ref.2 Ref.3 Ref.6 Ref.7 Ref.9 Ref.10
Corresponds to variant rs7946 [ dbSNP | Ensembl ].
VAR_016093
Natural variant1941G → R. Ref.7
Corresponds to variant rs70965427 [ dbSNP | Ensembl ].
VAR_055373
Isoform 2:
Natural variant111V → A.

Experimental info

Isoform 3:
Sequence conflict2221S → N in BAG63603. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 12, 2007. Version 4.
Checksum: 98C07AB54B3B4E6A

FASTA19922,134
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 024AEDF227E93FEE
Show »

FASTA23625,890
Isoform 3 [UniParc].

Checksum: ACB01FB93D481894
Show »

FASTA23224,967

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Hypothalamus.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ILE-58.
Tissue: Testis.
[6]"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.
[7]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).
[8]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT MET-175.
[10]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ILE-58 AND MET-175.
Tissue: Brain and Skin.
[11]"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] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF176807 mRNA. Translation: AAD53292.1.
AF176806 mRNA. Translation: AAD53291.1.
AF294468 expand/collapse EMBL AC list , AF294463, AF294464, AF294465, AF294466, AF294467 Genomic DNA. Translation: AAK19172.1.
AB029821 mRNA. Translation: BAA82407.1.
AF113126 mRNA. Translation: AAF14867.1. Different initiation.
AK302251 mRNA. Translation: BAG63603.1.
CR457099 mRNA. Translation: CAG33380.1.
EU574003 Genomic DNA. Translation: ACB21050.1.
AC020558 Genomic DNA. No translation available.
CH471196 Genomic DNA. Translation: EAW55701.1.
CH471196 Genomic DNA. Translation: EAW55702.1.
BC000557 mRNA. Translation: AAH00557.1.
BC050593 mRNA. Translation: AAH50593.1.
RefSeqNP_001254480.1. NM_001267551.1.
NP_001254481.1. NM_001267552.1.
NP_009100.2. NM_007169.2.
NP_680477.1. NM_148172.2.
NP_680478.1. NM_148173.1.
UniGeneHs.714193.

3D structure databases

ProteinModelPortalQ9UBM1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115672. 1 interaction.
STRING9606.ENSP00000255389.

Polymorphism databases

DMDM148887406.

Proteomic databases

PaxDbQ9UBM1.

Protocols and materials databases

DNASU10400.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000255389; ENSP00000255389; ENSG00000133027. [Q9UBM1-2]
ENST00000395781; ENSP00000379127; ENSG00000133027. [Q9UBM1-3]
ENST00000395782; ENSP00000379128; ENSG00000133027. [Q9UBM1-1]
ENST00000395783; ENSP00000379129; ENSG00000133027. [Q9UBM1-1]
GeneID10400.
KEGGhsa:10400.
UCSCuc002grj.3. human. [Q9UBM1-1]
uc002grl.4. human. [Q9UBM1-2]

Organism-specific databases

CTD10400.
GeneCardsGC17M017408.
HGNCHGNC:8830. PEMT.
HPAHPA042375.
MIM602391. gene.
neXtProtNX_Q9UBM1.
PharmGKBPA33175.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261676.
HOVERGENHBG000990.
InParanoidQ9UBM1.
KOK00551.
OMARVTGFPF.
OrthoDBEOG7TQV20.
PhylomeDBQ9UBM1.
TreeFamTF300198.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00753.

Gene expression databases

ArrayExpressQ9UBM1.
BgeeQ9UBM1.
CleanExHS_PEMT.
HS_PNMT.
GenevestigatorQ9UBM1.

Family and domain databases

InterProIPR024960. PEMT/MFAP.
IPR007318. Phopholipid_MeTrfase.
[Graphical view]
PANTHERPTHR15458. PTHR15458. 1 hit.
PfamPF04191. PEMT. 1 hit.
[Graphical view]
PIRSFPIRSF005444. PEMT. 1 hit.
PROSITEPS51599. SAM_PEMT_PEM2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPhosphatidyl_ethanolamine_methyltransferase.
GenomeRNAi10400.
NextBio39408.
PROQ9UBM1.
SOURCESearch...

Entry information

Entry namePEMT_HUMAN
AccessionPrimary (citable) accession number: Q9UBM1
Secondary accession number(s): A8MZ66 expand/collapse secondary AC list , B4DY41, D3DXC3, Q6IAQ5, Q86VL3, Q9BW86, Q9UHY6, Q9Y6V9
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: June 12, 2007
Last modified: April 16, 2014
This is version 113 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM