1. Gene
  2. PEMT - phosphatidylethanolamine N-methyltransferase Gene

PEMT - phosphatidylethanolamine N-methyltransferase Gene

中文名称:磷脂酰乙醇胺 N-甲基转移酶

种属: Homo sapiens

同用名: PLMT; PNMT; PEAMT; PEMPT; PEMT2

基因 ID: 10400 | 基因类型: protein coding

关于 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.

功能概要

磷脂酰胆碱 (PC) 是最丰富的哺乳动物磷脂。该基因编码一种酶,该酶通过肝脏中的连续甲基化将磷脂酰乙醇胺转化为磷脂酰胆碱。有核细胞中另一种独特的合成途径通过三步过程将细胞内胆碱转化为磷脂酰胆碱。由该基因编码的蛋白质亚型定位于内质网和线粒体相关膜。该基因的交替剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2012 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PEMT 蛋白结构

PEMT

PEMT: Phospholipid methyltransferase (90 - 191)

  • 0
  • 100
  • 199 a.a.
蛋白主名 其他名称

phosphatidylethanolamine N-methyltransferase

phospholipid methyltransferase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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
Macaca fascicularis PEMT NCBI NCBI:102139053
Others PEMT NCBI