PEMT - phosphatidylethanolamine N-methyltransferase Gene

Also Known as PLMT; PNMT; PEAMT; PEMPT; PEMT2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 10400

About PEMT

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,505,563-17,592,142 (from NCBI)

This gene has 13 transcripts (splice variants) and 189 orthologues. Broad expression in liver (RPKM 29.5), fat (RPKM 10.2) and 25 other tissues.

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]

PEMT Products (5)

mRNA Protein Name
NM_001267551.2 NP_001254480.1 phosphatidylethanolamine N-methyltransferase isoform 4
NM_001267552.2 NP_001254481.1 phosphatidylethanolamine N-methyltransferase isoform 3
NM_007169.3 NP_009100.2 phosphatidylethanolamine N-methyltransferase isoform 2
NM_148172.3 NP_680477.1 phosphatidylethanolamine N-methyltransferase isoform 1
NM_148173.2 NP_680478.1 phosphatidylethanolamine N-methyltransferase isoform 2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PEMT Protein Structure

PEMT

PEMT: Phospholipid methyltransferase (90 - 191)

  • 0
  • 100
  • 199 a.a.
Protein Preferred Names Protein Names

phosphatidylethanolamine N-methyltransferase

  • phospholipid methyltransferase

関連疾患

Diseases Alias
Choline Deficiency Disease

  • Choline Deficiency
Non-Alcoholic Fatty Liver Disease

  • Fatty Liver

  • Non-Alcoholic Fatty Liver

  • Nafld

  • Nonalcoholic Fatty Liver Disease

  • Nonalcoholic Steatohepatitis

  • Steatosis

  • Nafl

  • Nash

  • Non-Alcoholic Steatohepatitis

  • Susceptibility To Nonalcoholic Fatty Liver Disease

  • Steatohepatitis

  • Fatty Degeneration

  • Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

  • Nafld Without Nash

  • Nafld Without Mention Of Nash
Whiplash
Froelich Syndrome

  • Froehlich'S Syndrome

  • Froelich'S Syndrome

  • Adiposogenital Syndrome

  • Babinski-Froelich Syndrome

  • Froehlich Syndrome
Glycine N-Methyltransferase Deficiency

  • GNMT DEFICIENCY

  • Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

  • Hypermethioninemia Due To Gnmt Deficiency

  • Hypermethioninemia

  • Hepatic Methionine Adenosyltransferase Deficiency
Hypermethioninemia

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Deficiency Of Methionine Adenosyltransferase

  • Glycine N-Methyltransferase Deficiency

  • Met

  • S-Adenosylhomocysteine Hydrolase Deficiency

  • Gnmt Deficiency

  • Mat Deficiency

  • Methionine Adenosyltransferase Deficiency

  • Methioninemia

  • Deficiency Of Acetyl-Coa Acetyltransferase
Alzheimer Disease, Familial, 1

  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS08831 MUC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS10325 PEMT Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18490 Pemt Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24972 Pemt Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Canis familiaris PEMT VGNC VGNC:44418
Mus musculus PEMT MGD MGI:104535
Felis catus PEMT VGNC VGNC:68785
Rattus norvegicus PEMT RGD RGD:3297
Macaca mulatta PEMT VGNC VGNC:75940
Bos taurus PEMT VGNC VGNC:32745
Others PEMT NCBI