UniProtKB - Q9UBM1 (PEMT_HUMAN)
Protein
Phosphatidylethanolamine N-methyltransferase
Gene
PEMT
Organism
Homo sapiens (Human)
Status
Functioni
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).UniRule annotation
Catalytic activityi
- 1,2-diacyl-sn-glycero-3-phospho-N-methylethanolamine + S-adenosyl-L-methionine = 1,2-diacyl-sn-glycero-3-phospho-N,N-dimethylethanolamine + H+ + S-adenosyl-L-homocysteineUniRule annotationEC:2.1.1.71UniRule annotation
- 1,2-diacyl-sn-glycero-3-phospho-N,N-dimethylethanolamine + S-adenosyl-L-methionine = a 1,2-diacyl-sn-glycero-3-phosphocholine + H+ + S-adenosyl-L-homocysteineUniRule annotationEC:2.1.1.71UniRule annotation
- a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + S-adenosyl-L-methionine = 1,2-diacyl-sn-glycero-3-phospho-N-methylethanolamine + H+ + S-adenosyl-L-homocysteineUniRule annotationEC:2.1.1.17UniRule annotation
- 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phospho-N-methylethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phospho-N,N-dimethylethanolamine + H+ + S-adenosyl-L-homocysteine1 PublicationThis reaction proceeds in the forward1 Publication direction.
Activity regulationi
The first methylation is rate-limiting.
: phosphatidylcholine biosynthesis Pathwayi
This protein is involved in the pathway phosphatidylcholine biosynthesis, which is part of Phospholipid metabolism.UniRule annotationView all proteins of this organism that are known to be involved in the pathway phosphatidylcholine biosynthesis and in Phospholipid metabolism.
GO - Molecular functioni
- phosphatidylethanolamine binding Source: Ensembl
- phosphatidylethanolamine N-methyltransferase activity Source: GO_Central
- phosphatidyl-N-dimethylethanolamine N-methyltransferase activity Source: UniProtKB-UniRule
- phosphatidyl-N-methylethanolamine N-methyltransferase activity Source: UniProtKB-UniRule
GO - Biological processi
- blastocyst hatching Source: Ensembl
- methylation Source: UniProtKB-KW
- negative regulation of cell population proliferation Source: Ensembl
- phosphatidylcholine biosynthetic process Source: GO_Central
- positive regulation of cold-induced thermogenesis Source: YuBioLab
- positive regulation of lipoprotein metabolic process Source: Ensembl
- response to amino acid Source: Ensembl
- response to drug Source: Ensembl
- response to ethanol Source: Ensembl
- response to vitamin Source: Ensembl
- S-adenosylhomocysteine metabolic process Source: Ensembl
- S-adenosylmethionine metabolic process Source: Ensembl
- sphingomyelin biosynthetic process Source: Ensembl
Keywordsi
Molecular function | Methyltransferase, Transferase |
Biological process | Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism |
Ligand | S-adenosyl-L-methionine |
Enzyme and pathway databases
BRENDAi | 2.1.1.17, 2681 |
PathwayCommonsi | Q9UBM1 |
Reactomei | R-HSA-1483191, Synthesis of PC |
UniPathwayi | UPA00753 |
Chemistry databases
SwissLipidsi | SLP:000001199 [Q9UBM1-1] |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylethanolamine N-methyltransferaseUniRule annotation (EC:2.1.1.17UniRule annotation, EC:2.1.1.71UniRule annotation)Short name: PEAMTUniRule annotation Short name: PEMTUniRule annotation Alternative name(s): PEMT2 Phospholipid methyltransferaseUniRule annotation Short name: PLMTUniRule annotation |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8830, PEMT |
MIMi | 602391, gene |
neXtProti | NX_Q9UBM1 |
VEuPathDBi | HostDB:ENSG00000133027.17 |
Subcellular locationi
Mitochondrion
- Mitochondrion membrane Curated; Multi-pass membrane protein Curated
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Curated
Note: Found in endoplasmic reticulum where most PEMT activity is generated and in mitochondria.By similarity
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Curated
Cytosol
- cytosol Source: HPA
Endoplasmic reticulum
- endoplasmic reticulum Source: HPA
- endoplasmic reticulum membrane Source: Reactome
Mitochondrion
- mitochondrial membrane Source: UniProtKB-SubCell
- mitochondrion Source: HPA
Plasma Membrane
- brush border membrane Source: Ensembl
- sarcolemma Source: Ensembl
Other locations
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 12 | LumenalUniRule annotation1 PublicationAdd BLAST | 12 | |
Intramembranei | 13 – 33 | HelicalUniRule annotation1 PublicationAdd BLAST | 21 | |
Topological domaini | 34 – 45 | LumenalUniRule annotation1 Publication1 PublicationAdd BLAST | 12 | |
Transmembranei | 46 – 66 | HelicalUniRule annotationAdd BLAST | 21 | |
Topological domaini | 67 – 93 | CytoplasmicUniRule annotation1 PublicationAdd BLAST | 27 | |
Transmembranei | 94 – 114 | HelicalUniRule annotationAdd BLAST | 21 | |
Topological domaini | 115 – 157 | LumenalUniRule annotation1 Publication1 PublicationAdd BLAST | 43 | |
Transmembranei | 158 – 178 | HelicalUniRule annotationAdd BLAST | 21 | |
Topological domaini | 179 – 199 | CytoplasmicUniRule annotation1 Publication1 PublicationAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, Membrane, MitochondrionPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 98 | G → E: Impairs binding to S-adenosyl-L-methionine. 1 Publication | 1 | |
Mutagenesisi | 100 | G → D: Abolishes binding to S-adenosyl-L-methionine. 1 Publication | 1 | |
Mutagenesisi | 180 | E → D: Abolishes binding to S-adenosyl-L-methionine. 1 Publication | 1 | |
Mutagenesisi | 181 | E → D: Impairs binding to S-adenosyl-L-methionine. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 10400 |
OpenTargetsi | ENSG00000133027 |
PharmGKBi | PA33175 |
Miscellaneous databases
Pharosi | Q9UBM1, Tbio |
Genetic variation databases
BioMutai | PEMT |
DMDMi | 148887406 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000193920 | 1 – 199 | Phosphatidylethanolamine N-methyltransferaseAdd BLAST | 199 |
Post-translational modificationi
Isoform 2 is N-glycosylated with high-mannose oligosaccharides.1 Publication
Proteomic databases
jPOSTi | Q9UBM1 |
MassIVEi | Q9UBM1 |
PaxDbi | Q9UBM1 |
PeptideAtlasi | Q9UBM1 |
PRIDEi | Q9UBM1 |
ProteomicsDBi | 2457 84006 [Q9UBM1-1] 84007 [Q9UBM1-2] |
TopDownProteomicsi | Q9UBM1-1 [Q9UBM1-1] |
PTM databases
iPTMneti | Q9UBM1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000133027, Expressed in corpus epididymis and 203 other tissues |
ExpressionAtlasi | Q9UBM1, baseline and differential |
Genevisiblei | Q9UBM1, HS |
Organism-specific databases
HPAi | ENSG00000133027, Tissue enhanced (epididymis, liver) |
Interactioni
Binary interactionsi
Hide detailsIsoform 2 [Q9UBM1-2]
With | #Exp. | IntAct |
---|---|---|
AQP6 [Q13520] | 3 | EBI-17513590,EBI-13059134 |
STOM [P27105] | 3 | EBI-17513590,EBI-1211440 |
Protein-protein interaction databases
BioGRIDi | 115672, 5 interactors |
IntActi | Q9UBM1, 2 interactors |
STRINGi | 9606.ENSP00000255389 |
Miscellaneous databases
RNActi | Q9UBM1, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 98 – 100 | S-adenosyl-L-methionine bindingUniRule annotation1 Publication | 3 | |
Regioni | 180 – 181 | S-adenosyl-L-methionine bindingUniRule annotation1 Publication | 2 |
Sequence similaritiesi
Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family.UniRule annotation
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4142, Eukaryota |
GeneTreei | ENSGT00390000007041 |
HOGENOMi | CLU_086119_0_1_1 |
InParanoidi | Q9UBM1 |
OMAi | FNPTFWN |
OrthoDBi | 1395721at2759 |
PhylomeDBi | Q9UBM1 |
TreeFami | TF300198 |
Family and domain databases
HAMAPi | MF_03216, PLMT, 1 hit |
InterProi | View protein in InterPro IPR024960, PEMT/MFAP IPR007318, Phopholipid_MeTrfase |
PANTHERi | PTHR15458, PTHR15458, 1 hit |
Pfami | View protein in Pfam PF04191, PEMT, 1 hit |
PIRSFi | PIRSF005444, PEMT, 1 hit |
PROSITEi | View protein in PROSITE PS51599, SAM_PEMT_PEM2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9UBM1-1) [UniParc]FASTAAdd to basket
Also known as: PEMT-S
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTRLLGYVDP LDPSFVAAVI TITFNPLYWN VVARWEHKTR KLSRAFGSPY
60 70 80 90 100
LACYSLSVTI LLLNFLRSHC FTQAMLSQPR MESLDTPAAY SLGLALLGLG
110 120 130 140 150
VVLVLSSFFA LGFAGTFLGD YFGILKEARV TVFPFNILDN PMYWGSTANY
160 170 180 190
LGWAIMHASP TGLLLTVLVA LTYIVALLYE EPFTAEIYRQ KASGSHKRS
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD3YTC7 | D3YTC7_HUMAN | Phosphatidylethanolamine N-methyltr... | PEMT | 211 | Annotation score: | ||
J3KTR2 | J3KTR2_HUMAN | Phosphatidylethanolamine N-methyltr... | PEMT | 79 | Annotation score: | ||
J3QLU8 | J3QLU8_HUMAN | Phosphatidylethanolamine N-methyltr... | PEMT | 97 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Isoform 3 (identifier: Q9UBM1-3) | |||||
Sequence conflicti | 222 | S → N in BAG63603 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_055372 | 3 | R → W. Corresponds to variant dbSNP:rs70959686Ensembl. | 1 | ||
Natural variantiVAR_032771 | 58 | V → I4 PublicationsCorresponds to variant dbSNP:rs897453Ensembl. | 1 | ||
Natural variantiVAR_060083 | 58 | V → L. Corresponds to variant dbSNP:rs897453Ensembl. | 1 | ||
Natural variantiVAR_016093 | 175 | V → M6 PublicationsCorresponds to variant dbSNP:rs7946Ensembl. | 1 | ||
Natural variantiVAR_055373 | 194 | G → R. Corresponds to variant dbSNP:rs70965427Ensembl. | 1 | ||
Isoform 2 (identifier: Q9UBM1-2) | |||||
Natural variantiVAR_082891 | 11 | V → A1 PublicationCorresponds to variant dbSNP:rs7215880Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037311 | 1 | M → MKRSGNPGAEVTNSSVAGPD CCGGLGNIDFRQADFCVM in isoform 2 and isoform 3. 2 Publications | 1 | |
Alternative sequenceiVSP_046034 | 156 – 199 | MHASP…SHKRS → IPAPAGAVGSEARQPHGPAP DGAGGPHLHSGSPIRRALHR in isoform 3. 1 PublicationAdd BLAST | 44 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 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 |
CCDSi | CCDS11186.1 [Q9UBM1-2] CCDS11187.1 [Q9UBM1-1] CCDS58520.1 [Q9UBM1-3] |
RefSeqi | NP_001254480.1, NM_001267551.1 NP_001254481.1, NM_001267552.1 [Q9UBM1-3] NP_009100.2, NM_007169.2 [Q9UBM1-1] NP_680477.1, NM_148172.2 [Q9UBM1-2] NP_680478.1, NM_148173.1 [Q9UBM1-1] |
Genome annotation databases
Ensembli | ENST00000255389; ENSP00000255389; ENSG00000133027 [Q9UBM1-2] ENST00000395781; ENSP00000379127; ENSG00000133027 [Q9UBM1-3] ENST00000395782; ENSP00000379128; ENSG00000133027 [Q9UBM1-1] ENST00000395783; ENSP00000379129; ENSG00000133027 [Q9UBM1-1] |
GeneIDi | 10400 |
KEGGi | hsa:10400 |
UCSCi | uc002grj.3, human [Q9UBM1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 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 |
CCDSi | CCDS11186.1 [Q9UBM1-2] CCDS11187.1 [Q9UBM1-1] CCDS58520.1 [Q9UBM1-3] |
RefSeqi | NP_001254480.1, NM_001267551.1 NP_001254481.1, NM_001267552.1 [Q9UBM1-3] NP_009100.2, NM_007169.2 [Q9UBM1-1] NP_680477.1, NM_148172.2 [Q9UBM1-2] NP_680478.1, NM_148173.1 [Q9UBM1-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115672, 5 interactors |
IntActi | Q9UBM1, 2 interactors |
STRINGi | 9606.ENSP00000255389 |
Chemistry databases
SwissLipidsi | SLP:000001199 [Q9UBM1-1] |
PTM databases
iPTMneti | Q9UBM1 |
Genetic variation databases
BioMutai | PEMT |
DMDMi | 148887406 |
Proteomic databases
jPOSTi | Q9UBM1 |
MassIVEi | Q9UBM1 |
PaxDbi | Q9UBM1 |
PeptideAtlasi | Q9UBM1 |
PRIDEi | Q9UBM1 |
ProteomicsDBi | 2457 84006 [Q9UBM1-1] 84007 [Q9UBM1-2] |
TopDownProteomicsi | Q9UBM1-1 [Q9UBM1-1] |
Protocols and materials databases
Antibodypediai | 25461, 177 antibodies |
DNASUi | 10400 |
Genome annotation databases
Ensembli | ENST00000255389; ENSP00000255389; ENSG00000133027 [Q9UBM1-2] ENST00000395781; ENSP00000379127; ENSG00000133027 [Q9UBM1-3] ENST00000395782; ENSP00000379128; ENSG00000133027 [Q9UBM1-1] ENST00000395783; ENSP00000379129; ENSG00000133027 [Q9UBM1-1] |
GeneIDi | 10400 |
KEGGi | hsa:10400 |
UCSCi | uc002grj.3, human [Q9UBM1-1] |
Organism-specific databases
CTDi | 10400 |
DisGeNETi | 10400 |
GeneCardsi | PEMT |
HGNCi | HGNC:8830, PEMT |
HPAi | ENSG00000133027, Tissue enhanced (epididymis, liver) |
MIMi | 602391, gene |
neXtProti | NX_Q9UBM1 |
OpenTargetsi | ENSG00000133027 |
PharmGKBi | PA33175 |
VEuPathDBi | HostDB:ENSG00000133027.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4142, Eukaryota |
GeneTreei | ENSGT00390000007041 |
HOGENOMi | CLU_086119_0_1_1 |
InParanoidi | Q9UBM1 |
OMAi | FNPTFWN |
OrthoDBi | 1395721at2759 |
PhylomeDBi | Q9UBM1 |
TreeFami | TF300198 |
Enzyme and pathway databases
UniPathwayi | UPA00753 |
BRENDAi | 2.1.1.17, 2681 |
PathwayCommonsi | Q9UBM1 |
Reactomei | R-HSA-1483191, Synthesis of PC |
Miscellaneous databases
BioGRID-ORCSi | 10400, 4 hits in 995 CRISPR screens |
ChiTaRSi | PEMT, human |
GeneWikii | Phosphatidyl_ethanolamine_methyltransferase |
GenomeRNAii | 10400 |
Pharosi | Q9UBM1, Tbio |
PROi | PR:Q9UBM1 |
RNActi | Q9UBM1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000133027, Expressed in corpus epididymis and 203 other tissues |
ExpressionAtlasi | Q9UBM1, baseline and differential |
Genevisiblei | Q9UBM1, HS |
Family and domain databases
HAMAPi | MF_03216, PLMT, 1 hit |
InterProi | View protein in InterPro IPR024960, PEMT/MFAP IPR007318, Phopholipid_MeTrfase |
PANTHERi | PTHR15458, PTHR15458, 1 hit |
Pfami | View protein in Pfam PF04191, PEMT, 1 hit |
PIRSFi | PIRSF005444, PEMT, 1 hit |
PROSITEi | View protein in PROSITE PS51599, SAM_PEMT_PEM2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PEMT_HUMAN | |
Accessioni | Q9UBM1Primary (citable) accession number: Q9UBM1 Secondary accession number(s): A8MZ66 Q9Y6V9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | June 12, 2007 | |
Last modified: | April 7, 2021 | |
This is version 168 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families