Reviewed,
UniProtKB/Swiss-Prot Q9UBM1 (PEMT_HUMAN)
Last modified
May 26, 2009.
Version 67.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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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 |
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| 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.1Traceable author statement. Source: ProtInc |
| Cellular component | endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW mitochondrial membraneInferred 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
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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: 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. 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. |
Cross-references
Sequence databases | |
|---|---|
| AF176807 mRNA. Translation: AAD53292.1. AF176806 mRNA. Translation: AAD53291.1. AF294468 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 Q9Y6V9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


