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Aliases for PEMT Gene

Aliases for PEMT Gene

  • Phosphatidylethanolamine N-Methyltransferase 2 3
  • PEMPT 3 4 6
  • PEAMT 3 4
  • PEMT2 3 4
  • PNMT 3 4
  • EC 2.1.1.17 4
  • EC 2.1.1.71 4

External Ids for PEMT Gene

Summaries for PEMT Gene

Entrez Gene Summary for PEMT Gene

  • Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]

GeneCards Summary for PEMT Gene

PEMT (Phosphatidylethanolamine N-Methyltransferase) is a Protein Coding gene. Diseases associated with PEMT include whiplash. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include phosphatidyl-N-methylethanolamine N-methyltransferase activity and phosphatidyl-N-dimethylethanolamine N-methyltransferase activity.

UniProtKB/Swiss-Prot for PEMT Gene

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

Gene Wiki entry for PEMT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEMT Gene

Genomics for PEMT Gene

Genomic Location for PEMT Gene

Start:
17,505,563 bp from pter
End:
17,591,708 bp from pter
Size:
86,146 bases
Orientation:
Minus strand

Genomic View for PEMT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEMT Gene

Regulatory Elements for PEMT Gene

Transcription factor binding sites by QIAGEN in the PEMT gene promoter:

Proteins for PEMT Gene

  • Protein details for PEMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBM1-PEMT_HUMAN
    Recommended name:
    Phosphatidylethanolamine N-methyltransferase
    Protein Accession:
    Q9UBM1
    Secondary Accessions:
    • A8MZ66
    • B4DY41
    • D3DXC3
    • Q6IAQ5
    • Q86VL3
    • Q9BW86
    • Q9UHY6
    • Q9Y6V9

    Protein attributes for PEMT Gene

    Size:
    199 amino acids
    Molecular mass:
    22134 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF14867.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PEMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEMT Gene

Proteomics data for PEMT Gene at MOPED

Post-translational modifications for PEMT Gene

No data available for DME Specific Peptides for PEMT Gene

Domains for PEMT Gene

Protein Domains for PEMT Gene

UniProtKB/Swiss-Prot:

PEMT_HUMAN
Family:
  • Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family.:
    • Q9UBM1
genes like me logo Genes that share domains with PEMT: view

No data available for Gene Families for PEMT Gene

Function for PEMT Gene

Molecular function for PEMT Gene

GENATLAS Biochemistry: phosphatidylethanolamine N-methyltransferase,converting phosphatidylethanolamine to phosphatidylcholine,involved in hepatocyte proliferation and liver cancer,with three isoforms differing from each other in the 5 region
UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + phosphatidyl-N-methylethanolamine = S-adenosyl-L-homocysteine + phosphatidyl-N-dimethylethanolamine.
UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + phosphatidyl-N-dimethylethanolamine = S-adenosyl-L-homocysteine + phosphatidylcholine.
UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + phosphatidylethanolamine = S-adenosyl-L-homocysteine + phosphatidyl-N-methylethanolamine.
UniProtKB/Swiss-Prot EnzymeRegulation: The first methylation is rate-limiting
UniProtKB/Swiss-Prot Function: Catalyzes three sequential methylation reactions of phosphatidylethanolamine (PE) by AdoMet, thereby producing phosphatidylcholine (PC)

Enzyme Numbers (IUBMB) for PEMT Gene

Gene Ontology (GO) - Molecular Function for PEMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000773 phosphatidyl-N-methylethanolamine N-methyltransferase activity IEA --
GO:0004608 phosphatidylethanolamine N-methyltransferase activity IEA --
GO:0008170 N-methyltransferase activity --
GO:0080101 phosphatidyl-N-dimethylethanolamine N-methyltransferase activity IEA --
genes like me logo Genes that share ontologies with PEMT: view
genes like me logo Genes that share phenotypes with PEMT: view

Animal Models for PEMT Gene

MGI Knock Outs for PEMT:

miRNA for PEMT Gene

miRTarBase miRNAs that target PEMT

No data available for Transcription Factor Targeting and HOMER Transcription for PEMT Gene

Localization for PEMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEMT Gene

Isoform 1: Endoplasmic reticulum membrane; Multi-pass membrane protein. Mitochondrion membrane; Multi-pass membrane protein. Note=Found in endoplasmic reticulum where most PEMT activity is generated and in mitochondria. {ECO:0000250}.
Isoform 2: Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEMT Gene COMPARTMENTS Subcellular localization image for PEMT gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
plasma membrane 3
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for PEMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with PEMT: view

Pathways for PEMT Gene

genes like me logo Genes that share pathways with PEMT: view

UniProtKB/Swiss-Prot Q9UBM1-PEMT_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis.

Gene Ontology (GO) - Biological Process for PEMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 9989271
GO:0006644 phospholipid metabolic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0008283 cell proliferation TAS 9989271
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with PEMT: view

Compounds for PEMT Gene

(2036) HMDB Compounds for PEMT Gene

Compound Synonyms Cas Number PubMed IDs
PC(14:0/14:0)
  • Phosphatidylcholine(14:0/14:0)
Not Available
PC(14:0/14:1(9Z))
  • Phosphatidylcholine(14:0/14:1)
Not Available
PC(14:0/15:0)
  • GPCho(14:0/15:0)
Not Available
PC(14:0/16:0)
  • GPCho(30:0)
Not Available
PC(14:0/16:1(9Z))
  • 1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine
Not Available

(13) Novoseek inferred chemical compound relationships for PEMT Gene

Compound -log(P) Hits PubMed IDs
phosphatidylethanolamine 88.7 50
phosphatidylcholine 78.1 25
guanidinoacetate 67.8 2
s-adenosylmethionine 67 10
homocysteine 60.2 4
genes like me logo Genes that share compounds with PEMT: view

Transcripts for PEMT Gene

Unigene Clusters for PEMT Gene

Phosphatidylethanolamine N-methyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEMT Gene

No ASD Table

Relevant External Links for PEMT Gene

GeneLoc Exon Structure for
PEMT
ECgene alternative splicing isoforms for
PEMT

Expression for PEMT Gene

mRNA expression in normal human tissues for PEMT Gene

mRNA differential expression in normal tissues according to GTEx for PEMT Gene

This gene is overexpressed in Liver (7.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEMT Gene

SOURCE GeneReport for Unigene cluster for PEMT Gene Hs.714193

genes like me logo Genes that share expressions with PEMT: view

Orthologs for PEMT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEMT 36
  • 98.87 (n)
  • 97.88 (a)
PEMT 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEMT 36
  • 84.42 (n)
  • 80.4 (a)
PEMT 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEMT 36
  • 86.31 (n)
  • 83.93 (a)
PEMT 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pemt 36
  • 81.07 (n)
  • 80.4 (a)
Pemt 16
Pemt 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEMT 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEMT 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pemt 36
  • 82.58 (n)
  • 80.9 (a)
chicken
(Gallus gallus)
Aves PEMT 36
  • 70.11 (n)
  • 65.26 (a)
PEMT 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEMT 37
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16016 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pemt 36
  • 62.29 (n)
  • 59.6 (a)
zebrafish
(Danio rerio)
Actinopterygii pemt 36
  • 62.6 (n)
  • 60.09 (a)
pemt 37
  • 56 (a)
OneToOne
zgc55479 36
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR431C 36
  • 53.37 (n)
  • 45.21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OPI3 36
  • 51.37 (n)
  • 44.33 (a)
OPI3 37
  • 40 (a)
OneToOne
OPI3 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14234g 36
  • 49.63 (n)
  • 45.56 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04699 36
  • 55.78 (n)
  • 46.94 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cho1 36
  • 45.15 (n)
  • 41.27 (a)
Species with no ortholog for PEMT:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEMT Gene

ENSEMBL:
Gene Tree for PEMT (if available)
TreeFam:
Gene Tree for PEMT (if available)

Paralogs for PEMT Gene

No data available for Paralogs for PEMT Gene

Variants for PEMT Gene

Sequence variations from dbSNP and Humsavar for PEMT Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs7946 - 17,506,246(+) AGCCA(C/T)TATGT missense, reference
rs729974 -- 17,572,253(-) aagag(A/G)caaag intron-variant
rs729975 -- 17,572,154(-) AGAGG(C/T)GGCTT intron-variant
rs744925 -- 17,564,187(-) CACCA(C/T)GGCCC intron-variant
rs746899 -- 17,522,695(+) TCTGG(C/T)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEMT Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
nsv907729 CNV Loss 21882294
nsv907730 CNV Loss 21882294
nsv907731 CNV Loss 21882294
dgv3067n71 CNV Loss 21882294
dgv3068n71 CNV Loss 21882294
nsv907737 CNV Loss 21882294
dgv3069n71 CNV Gain+Loss 21882294
dgv3070n71 CNV Loss 21882294
nsv907743 CNV Gain+Loss 21882294
dgv3071n71 CNV Loss 21882294
nsv907745 CNV Loss 21882294
nsv907746 CNV Loss 21882294
nsv907748 CNV Loss 21882294
nsv523094 CNV Loss 19592680
nsv907749 CNV Loss 21882294
nsv524158 CNV Loss 19592680
nsv470579 CNV Loss 18288195
nsv907750 CNV Loss 21882294
nsv833383 CNV Loss 17160897
nsv833384 CNV Loss 17160897

Relevant External Links for PEMT Gene

HapMap Linkage Disequilibrium report
PEMT
Human Gene Mutation Database (HGMD)
PEMT

Disorders for PEMT Gene

(1) MalaCards Diseases for PEMT Gene

Search for PEMT Gene in MalaCards »

(8) Novoseek inferred disease relationships for PEMT Gene

Disease -log(P) Hits PubMed IDs
choline deficiency 84.4 1
fatty liver 56 5
liver diseases alcoholic 40.9 2
liver diseases 25.6 3
alzheimers disease 15.2 6

Relevant External Links for PEMT

Genetic Association Database (GAD)
PEMT
Human Genome Epidemiology (HuGE) Navigator
PEMT
genes like me logo Genes that share disorders with PEMT: view

No data available for UniProtKB/Swiss-Prot for PEMT Gene

Publications for PEMT Gene

  1. Identification of three novel cDNAs for human phosphatidylethanolamine N-methyltransferase and localization of the human gene on chromosome 17p11.2. (PMID: 9989271) Walkey C.J. … Vance D.E. (Biochim. Biophys. Acta 1999) 2 3 4 23
  2. Structure, expression profile and alternative processing of the human phosphatidylethanolamine N-methyltransferase (PEMT) gene. (PMID: 11420179) Shields D.J. … Vance D.E. (Biochim. Biophys. Acta 2001) 3 4 23
  3. Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted. (PMID: 19167960) Ivanov A. … Caudill M.A. (J Am Diet Assoc 2009) 3 23 49
  4. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PMID: 19260141) Zemunik T. … Rudan I. (Croat. Med. J. 2009) 3 23 49
  5. Polymorphisms of microsomal triglyceride transfer protein gene and phosphatidylethanolamine N-methyltransferase gene in alcoholic and nonalcoholic fatty liver disease in Koreans. (PMID: 19262398) Jun D.W. … Chae J.D. (Eur J Gastroenterol Hepatol 2009) 3 23 49

Products for PEMT Gene

Sources for PEMT Gene

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