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PEMT Gene

protein-coding   GIFtS: 58
GCID: GC17M017408

Phosphatidylethanolamine N-Methyltransferase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Phosphatidylethanolamine N-Methyltransferase1 2     PNMT2 3
PEMPT2 3 5     EC 2.1.1.173
PEAMT2 3     EC 2.1.1.713
PEMT22 3     

External Ids:    HGNC: 88301   Entrez Gene: 104002   Ensembl: ENSG000001330277   OMIM: 6023915   UniProtKB: Q9UBM13   
ORGUL members:         

Export aliases for PEMT gene to outside databases

Previous GC identifers: GC17M017723 GC17M018781 GC17M017347 GC17M017609 GC17M017349 GC17M017161


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and orofacial cleft. GO annotations related to this gene include phosphatidyl-N-dimethylethanolamine N-methyltransferase activity and phosphatidyl-N-methylethanolamine N-methyltransferase activity.

UniProtKB/Swiss-Prot: PEMT_HUMAN, Q9UBM1
Function: Catalyzes three sequential methylation reactions of phosphatidylethanolamine (PE) by AdoMet, thereby
producing phosphatidylcholine (PC)

Gene Wiki entry for PEMT (Phosphatidyl ethanolamine methyltransferase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the PEMT gene promoter:
         p53   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEMT promoter sequence
   Search Chromatin IP Primers for PEMT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PEMT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

PEMT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEMT gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M017408:  view genomic region     (about GC identifiers)

Start:
17,408,877 bp from pter      End:
17,495,022 bp from pter
Size:
86,146 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PEMT_HUMAN, Q9UBM1 (See protein sequence)
Recommended Name: Phosphatidylethanolamine N-methyltransferase  
Size: 199 amino acids; 22134 Da
Sequence caution: Sequence=AAF14867.1; Type=Erroneous initiation;
Secondary accessions: A8MZ66 B4DY41 D3DXC3 Q6IAQ5 Q86VL3 Q9BW86 Q9UHY6 Q9Y6V9
Alternative splicing: 3 isoforms:  Q9UBM1-1   Q9UBM1-2   Q9UBM1-3   (No experimental confirmation available. Ref.5 (BAG63603) sequence is in conflict in position: 222:S->N)

Explore the universe of human proteins at neXtProt for PEMT: NX_Q9UBM1

Explore proteomics data for PEMT at MOPED


See PEMT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (5 alternative transcripts): 
NP_001254480.1  NP_001254481.1  NP_009100.2  NP_680477.1  NP_680478.1  

ENSEMBL proteins: 
 ENSP00000379128   ENSP00000379129   ENSP00000391288   ENSP00000255389   ENSP00000379127  
 ENSP00000463112   ENSP00000463713  
Reactome Protein details: Q9UBM1

PEMT Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR024960 PEMT/MFAP
 IPR007318 Phopholipid_MeTrfase

Graphical View of Domain Structure for InterPro Entry Q9UBM1

ProtoNet protein and cluster: Q9UBM1

1 Blocks protein domain: IPB007318 Phospholipid methyltransferase

UniProtKB/Swiss-Prot: PEMT_HUMAN, Q9UBM1
Similarity: Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase
family


PEMT for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: PEMT_HUMAN, Q9UBM1
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
Catalytic activity: S-adenosyl-L-methionine + phosphatidyl-N-dimethylethanolamine = S-adenosyl-L-homocysteine +
phosphatidylcholine
Catalytic activity: S-adenosyl-L-methionine + phosphatidylethanolamine = S-adenosyl-L-homocysteine +
phosphatidyl-N-methylethanolamine
Enzyme regulation: The first methylation is rate-limiting

     Genatlas biochemistry entry for PEMT:
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

     Enzyme Numbers (IUBMB): EC 2.1.1.171 EC 2.1.1.711

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000773phosphatidyl-N-methylethanolamine N-methyltransferase activity IEA--
GO:0004608phosphatidylethanolamine N-methyltransferase activity IEA--
GO:0008170N-methyltransferase activity ----
GO:0080101phosphatidyl-N-dimethylethanolamine N-methyltransferase activity IEA--
     
PEMT for ontologies           About GeneDecksing


Phenotypes:
     8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pemt):
 behavior/neurological  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
 liver/biliary system  mortality/aging  nervous system 

PEMT for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Pemttm1J for PEMT

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PEMT
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   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEMT
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PEMT

miRNA
Products:
    
miRTarBase miRNAs that target PEMT:
hsa-mir-124-3p (MIRT022625)

Block miRNA regulation of human, mouse, rat PEMT using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate PEMT:
hsa-miR-124 hsa-miR-506
SwitchGear 3'UTR luciferase reporter plasmidPEMT 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for PEMT
Predesigned siRNA for gene silencing in human, mouse, rat PEMT

Gene Editing
Products:
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Clone
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OriGene ORF clones in mouse, rat for PEMT
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 3): PEMT (NM_007169)
Sino Biological Human cDNA Clone for PEMT
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEMT
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEMT

Cell Line
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Browse ESI BIO Cell Lines and PureStem Progenitors for PEMT 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEMT


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
PEMT_HUMAN, Q9UBM1: 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)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
mitochondrion5
plasma membrane3
cytosol1
extracellular1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ----
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral component of membrane IEA--
GO:0031966mitochondrial membrane IEA--

PEMT for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PEMT About    
See pathways by source

SuperPathContained pathways About
1Glycerophospholipid biosynthesis
Glycerophospholipid biosynthesis0.64
Glycerophospholipid metabolism0.62
Phospholipid metabolism0.64
Synthesis of PC0.00
2Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
Metabolic pathways0.38
3Acetylcholine Synthesis
Acetylcholine Synthesis

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 BioSystems Pathway for PEMT
    Acetylcholine Synthesis


1 Reactome Pathway for PEMT
    Synthesis of PC


2 Kegg Pathways  (Kegg details for PEMT):
    Glycerophospholipid metabolism
Metabolic pathways

UniProtKB/Swiss-Prot: PEMT_HUMAN, Q9UBM1
Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis


PEMT for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PEMT
Interactions:

    Search GeneGlobe Interaction Network for PEMT

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PEMT (Q9UBM13 ENSP000002553894) via UniProtKB, MINT, STRING, and/or I2D (see all 247)

InteractantInteraction Details
GeneCardExternal ID(s)
ENSG00000206286Q8N1B43I2D: score=1 
ENSG00000224455Q8N1B43I2D: score=1 
ENSG00000225590Q8N1B43I2D: score=1 
ENSG00000228425Q8N1B43I2D: score=1 
ENSG00000236014Q8N1B43I2D: score=1 
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Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006629lipid metabolic process TAS9989271
GO:0006644phospholipid metabolic process TAS--
GO:0006656phosphatidylcholine biosynthetic process TAS--
GO:0008283cell proliferation TAS9989271
GO:0044281small molecule metabolic process TAS--

PEMT for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for PEMT

Selected HMDB Compounds for PEMT (see all 2036)    About this table
CompoundSynonyms CAS #PubMed Ids
PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----
PC(14:0/16:0)GPCho(30:0) (see all 8)----
PC(14:0/16:1(9Z))1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)----
PC(14:0/18:0)1-myristoyl-2-stearoyl-sn-glycero-3-phosphocholine (see all 8)----
PC(14:0/18:1(11Z))Phosphatidylcholine(14:0/18:1w7) (see all 14)----
PC(14:0/18:1(9Z))1-myristoyl-2-oleoyl-sn-glycero-3-phosphocholine (see all 14)----

Selected Novoseek inferred chemical compound relationships for PEMT gene (see all 13)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
phosphatidylethanolamine 88.7 95 10100195 (6), 7943660 (5), 9989271 (2), 12431977 (2) (see all 31)
phosphatidylcholine 78.1 45 7943660 (5), 16679290 (2), 9854020 (2), 11192332 (1) (see all 19)
guanidinoacetate 67.8 3 15218538 (1), 11558902 (1)
s-adenosylmethionine 67 15 12842883 (5), 1329982 (1), 7943660 (1), 12431977 (1) (see all 6)
homocysteine 60.2 5 17063928 (2), 12842883 (2)
choline 60.1 32 19167960 (3), 16816108 (2), 17613168 (2), 18789905 (2) (see all 9)
phosphoethanolamine 56.3 2 16960350 (1), 12215503 (1)
folate 45.9 11 19167960 (2)
phospholipid 39.6 3 7943660 (2), 10100195 (1)
phosphatidylserine 25.2 2 8245031 (1)



PEMT for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for PEMT gene (5 alternative transcripts): 
NM_001267551.1  NM_001267552.1  NM_007169.2  NM_148172.2  NM_148173.1  

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000582268 ENST00000484838 ENST00000490392 ENST00000395782(uc002grj.3)
ENST00000395783(uc002grk.3) ENST00000435340 ENST00000255389(uc002grl.3)
ENST00000395781(uc010vwx.2) ENST00000477595 ENST00000580147 ENST00000421096
ENST00000472446 ENST00000461404
miRNA
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2 qRT-PCR Assays for microRNAs that regulate PEMT:
hsa-miR-124 hsa-miR-506
SwitchGear 3'UTR luciferase reporter plasmidPEMT 3' UTR sequence
Inhib. RNA
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GenScript: all cDNA clones in your preferred vector (see all 3): PEMT (NM_007169)
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Primer
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OriGene qPCR primer pairs and template standards for PEMT
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEMT
  QuantiTect SYBR Green Assays in human, mouse, rat PEMT
  QuantiFast Probe-based Assays in human, mouse, rat PEMT

Selected AceView cDNA sequences (see all 201):

BM707743 CA455048 CA455072 BX097964 BM710592 CB161987 CR614541 AI869572 
AV728921 BQ025599 BM810724 BI086606 NM_007169 NM_148172 BU153519 BQ010198 
NM_148173 AA810439 CD671945 CB163849 CA445430 CR611135 BI823889 BU754271 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PEMT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CACGCCAGCC
PEMT Expression
About this image

PEMT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PEMT Protein Expression
    Custom PCR Arrays for PEMT
Primer
Products:
OriGene qPCR primer pairs and template standards for PEMT
OriGene qSTAR qPCR primer pairs in human, mouse for PEMT
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEMT
QuantiTect SYBR Green Assays in human, mouse, rat PEMT
QuantiFast Probe-based Assays in human, mouse, rat PEMT
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEMT

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for PEMT gene from Selected species (see all 17)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Pemt1 , 5 phosphatidylethanolamine N-methyltransferase1, 5 81.07(n)1
80.4(a)1
  11 (37.81 cM)5
186181  NM_008819.21  NP_032845.21 
 599706145 
chicken
(Gallus gallus)
Aves PEMT1 phosphatidylethanolamine N-methyltransferase 70.11(n)
65.26(a)
  416508  NM_001006164.1  NP_001006164.1 
lizard
(Anolis carolinensis)
Reptilia PEMT6
phosphatidylethanolamine N-methyltransferase
61(a)
1 ↔ 1
GL343500.1(244635-263219)
African clawed frog
(Xenopus laevis)
Amphibia Xl.160162 Xenopus laevis transcribed sequence with weak similarity more 76.61(n)    CA790765.1 
zebrafish
(Danio rerio)
Actinopterygii zgc554792 similar to phosphatidylethanolamine N-methyltransferase 74.63(n)   393127  BC045355.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OPI3(YJR073C)4
OPI31
Phospholipid methyltransferase (methylene-fatty-acyl-phospholipid more4
OPI31
51.37(n)1
44.33(a)1
  10(572935-572315)4
8535361, 4  NP_012607.11, 4 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PEMT (see all 1760)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs347387481,2
C--17247350(+) CGGAC-/AACCTCTG 3 -- int11Minor allele frequency- AAC:0.00NA 2
rs709654321,2
C,F--17408392(-) TAAGCC/ATCATC 5 -- ds5001 int15Minor allele frequency- A:0.01NS 172
rs709654311,2
C,F--17408436(-) ACCCTA/GTGTGT 5 -- ds5001 int16Minor allele frequency- G:0.01NS WA 290
rs709654301,2
C,F--17408480(-) AATGAA/GTGGCC 5 -- ds5001 int15Minor allele frequency- G:0.02NS 172
rs10206961,2
C,F--17408484(+) ATTCAT/CTTAGG 5 -- ds5001 int113Minor allele frequency- C:0.25NA NS WA CSA EA 540
rs1450233371,2
C--17408639(+) GGTGGC/GAGCAG 5 -- ds5001 int10--------
rs46464101,2
C,F,A,H--17408699(-) AGGGGC/TTCACC 5 -- ds5001 int126Minor allele frequency- T:0.37NS EA NA CSA WA 2516
rs1509382621,2
--17408708(+) CTGACG/TCCTCC 5 -- ds5001 int10--------
rs1895033051,2
--17408783(+) AAAGGC/GTGGAG 5 -- ds5001 int10--------
rs709654291,2
C,F--17408824(-) GGGCAC/TGAATA 5 -- ds5001 int16Minor allele frequency- T:0.01NS CSA 184

HapMap Linkage Disequilibrium report for PEMT (17408877 - 17495022 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for PEMT (see all 22):    About this table    
Variant IDTypeSubtypePubMed ID
nsv907750CNV Loss21882294
nsv523094CNV Loss19592680
nsv907730CNV Loss21882294
nsv524158CNV Loss19592680
dgv3067n71CNV Loss21882294
nsv470579CNV Loss18288195
nsv907748CNV Loss21882294
dgv3070n71CNV Loss21882294
nsv907749CNV Loss21882294
nsv907737CNV Loss21882294

Human Gene Mutation Database (HGMD): PEMT
Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602391    OMIM disorders: --

Selected diseases for PEMT (see all 22):    
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whiplash    orofacial cleft    liver disease    neuronal ceroid lipofuscinosis
21-hydroxylase deficiency    fatty liver disease    gigantism    smith magenis syndrome
spina bifida    alzheimer's disease    endometriosis    blindness
infertility    cystic fibrosis    hepatocellular carcinoma    coronary artery disease
atherosclerosis    schizophrenia    breast cancer    neuronitis


PEMT for disorders           About GeneDecksing

8 Novoseek inferred disease relationships for PEMT gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
choline deficiency 84.4 1 16816108 (1)
fatty liver 56 9 16051693 (3), 19262398 (2)
liver diseases alcoholic 40.9 2 11192332 (1), 11762137 (1)
liver diseases 25.6 5 16051693 (2), 19262398 (1)
alzheimers disease 15.2 8 10100195 (5), 16996649 (1)
hepatocellular carcinoma 0.584 4 12931022 (2), 9854020 (1)
breast cancer 0 1 17117180 (1)
tumors 0 2 12931022 (2)

Genetic Association Database (GAD): PEMT
Human Genome Epidemiology (HuGE) Navigator: PEMT (48 documents)

Export disorders for PEMT gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for PEMT gene, integrated from 10 sources (see all 84):
(articles sorted by number of sources associating them with PEMT)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of three novel cDNAs for human phosphatidylethanolamine N-methyltransferase and localization of the human gene on chromosome 17p11.2. (PubMed id 9989271)1, 2, 3, 9 Walkey C.J.... Vance D.E. (Biochim. Biophys. Acta 1999)
  2. Structure, expression profile and alternative processing of the human phosphatidylethanolamine N-methyltransferase (PEMT) gene. (PubMed id 11420179)1, 2, 9 Shields D.J.... Vance D.E. (Biochim. Biophys. Acta 2001)
  3. Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). (PubMed id 16051693)1, 4, 9 Song J....Zeisel S.H. (FASEB J. 2005)
  4. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. (PubMed id 17391797)1, 4, 9 Dong H....Onishi S. (J. Hepatol. 2007)
  5. Phosphatidylethanolamine N-methyltransferase (PEMT) gene expression is induced by estrogen in human and mouse primary hepatocytes. (PubMed id 17456783)1, 2, 9 Resseguie M....Zeisel S.H. (FASEB J. 2007)
  6. A study of the PEMT gene in schizophrenia. (PubMed id 17720317)1, 4, 9 Liu Y....Wei J. (Neurosci. Lett. 2007)
  7. Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted. (PubMed id 19167960)1, 4, 9 Ivanov A....Caudill M.A. (J Am Diet Assoc 2009)
  8. Polymorphisms of microsomal triglyceride transfer protein gene and phosphatidylethanolamine N-methyltransferase gene in alcoholic and nonalcoholic fatty liver disease in Koreans. (PubMed id 19262398)1, 4, 9 Jun D.W....Chae J.D. (amp 2009)
  9. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PubMed id 19260141)1, 4, 9 Zemunik T....Rudan I. (Croat. Med. J. 2009)
  10. Common genetic polymorphisms affect the human requirement for the nutrient choline. (PubMed id 16816108)1, 4, 9 da Costa K.A....Zeisel S.H. (FASEB J. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 10400 HGNC: 8830 AceView: PEMT Ensembl:ENSG00000133027 euGenes: HUgn10400
ECgene: PEMT Kegg: 10400 H-InvDB: PEMT

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for PEMT Pharmacogenomics, SNPs, Pathways
NIEHS-SNPshttp://egp.gs.washington.edu/data/pemt/

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for PEMT gene:
Search GeneIP for patents involving PEMT

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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