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PEMT phosphatidylethanolamine N-methyltransferase [ Homo sapiens (human) ]

Gene ID: 10400, updated on 19-Jul-2014
Official Symbol
PEMTprovided by HGNC
Official Full Name
phosphatidylethanolamine N-methyltransferaseprovided by HGNC
Primary source
HGNC:8830
See related
Ensembl:ENSG00000133027; HPRD:03862; MIM:602391; Vega:OTTHUMG00000059290
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PNMT; PEAMT; PEMPT; PEMT2
Summary
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]
See PEMT in Epigenomics, MapViewer
Location:
17p11.2
Exon count :
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (17505563..17591703, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17408877..17495434, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 9 Neighboring gene RAS, dexamethasone-induced 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 Neighboring gene retinoic acid induced 1 Neighboring gene Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) Neighboring gene microRNA 6777 Neighboring gene sterol regulatory element binding transcription factor 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidyl-N-dimethylethanolamine N-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidyl-N-methylethanolamine N-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
phosphatidylethanolamine N-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
glycerophospholipid biosynthetic process TAS
Traceable Author Statement
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
methylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
phosphatidylethanolamine N-methyltransferase
Names
phosphatidylethanolamine N-methyltransferase
NP_001254480.1
NP_001254481.1
NP_009100.2
NP_680477.1
NP_680478.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001267551.1NP_001254480.1  phosphatidylethanolamine N-methyltransferase isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 4) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AK302251, BC050593, BM011377
    UniProtKB/Swiss-Prot
    Q9UBM1
    Related
    ENSP00000391288, OTTHUMP00000065538, ENST00000435340, OTTHUMT00000131664
    Conserved Domains (1) summary
    pfam04191
    Location:123206
    Blast Score: 243
    PEMT; Phospholipid methyltransferase
  2. NM_001267552.1NP_001254481.1  phosphatidylethanolamine N-methyltransferase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an additional exon in the 3' coding region, compared to variant 1, which results in a frameshift and a protein (isoform 3) with a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK302251, BC050593
    Consensus CDS
    CCDS58520.1
    UniProtKB/Swiss-Prot
    Q9UBM1
    Related
    ENSP00000379127, OTTHUMP00000259849, ENST00000395781, OTTHUMT00000442880
    Conserved Domains (1) summary
    pfam04191
    Location:145202
    Blast Score: 203
    PEMT; Phospholipid methyltransferase
  3. NM_007169.2NP_009100.2  phosphatidylethanolamine N-methyltransferase isoform 2

    See proteins identical to NP_009100.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream start codon compared to variant 1. Variants 2 and 3 encode the same isoform (2). Isoform 2 localizes to mitochondria-associated membranes.
    Source sequence(s)
    AB029821
    Consensus CDS
    CCDS11187.1
    UniProtKB/Swiss-Prot
    Q9UBM1
    Related
    ENSP00000379129, OTTHUMP00000065536, ENST00000395783, OTTHUMT00000131657
    Conserved Domains (1) summary
    pfam04191
    Location:108191
    Blast Score: 239
    PEMT; Phospholipid methyltransferase
  4. NM_148172.2NP_680477.1  phosphatidylethanolamine N-methyltransferase isoform 1

    See proteins identical to NP_680477.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Isoform 1 localizes to the endoplasmic reticulum.
    Source sequence(s)
    AF113126, AK302251, BC050593
    Consensus CDS
    CCDS11186.1
    UniProtKB/Swiss-Prot
    Q9UBM1
    Related
    ENSP00000255389, OTTHUMP00000065535, ENST00000255389, OTTHUMT00000131656
    Conserved Domains (1) summary
    pfam04191
    Location:145228
    Blast Score: 248
    PEMT; Phospholipid methyltransferase
  5. NM_148173.1NP_680478.1  phosphatidylethanolamine N-methyltransferase isoform 2

    See proteins identical to NP_680478.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon compared to variant 1. Variants 2 and 3 encode the same isoform (2). Isoform 2 localizes to mitochondria-associated membranes.
    Source sequence(s)
    AF176807
    Consensus CDS
    CCDS11187.1
    UniProtKB/Swiss-Prot
    Q9UBM1
    Related
    ENSP00000379128, OTTHUMP00000065537, ENST00000395782, OTTHUMT00000131658
    Conserved Domains (1) summary
    pfam04191
    Location:108191
    Blast Score: 239
    PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    17505563..17591703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721418.1XP_006721481.1  

    Conserved Domains (1) summary
    pfam04191
    Location:150233
    Blast Score: 241
    PEMT; Phospholipid methyltransferase

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    17161232..17247817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    17417546..17503772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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