1. Gene
  2. PNPLA3 - patatin like phospholipase domain containing 3 Gene

PNPLA3 - patatin like phospholipase domain containing 3 Gene

中文名称:含 patatin 样磷脂酶结构域 3

种属: Homo sapiens

同用名: ADPN; C22orf20; iPLA(2)epsilon

基因 ID: 80339 | 基因类型: protein coding

关于 PNPLA3

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:43,923,805-43,947,582 (from NCBI)

This gene has 5 transcripts (splice variants), 303 orthologues, 4 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 8.6), kidney (RPKM 3.4) and 4 other tissues.

功能概要

该基因编码的蛋白质是一种三酰甘油脂肪酶,可介导脂肪细胞中的三酰甘油水解。编码的蛋白质似乎是膜结合的,可能参与脂肪细胞中能量使用/储存的平衡。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a triacylglycerol Lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]

PNPLA3 基因产物(1)

mRNA Protein Name
NM_025225.3 NP_079501.2 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 1-acylglycerol-3-phosphate O-acyltransferase activity IDA
IDA: 通过直接分析推断
22560221 GOA
enables diolein transacylation activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables long-chain fatty acyl-CoA binding IDA
IDA: 通过直接分析推断
22560221 GOA
enables lysophosphatidic acid acyltransferase activity IDA
IDA: 通过直接分析推断
22560221 GOA
enables lysophosphatidic acid binding IDA
IDA: 通过直接分析推断
22560221 GOA
enables mono-olein transacylation activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables phospholipase A2 activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables triacylglycerol lipase activity IDA
IDA: 通过直接分析推断
15364929 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycerophospholipid metabolic process IDA
IDA: 通过直接分析推断
22560221 GOA
involved in lipid droplet organization IMP
IMP: 通过突变表型推断
23398201 GOA
involved in long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
22560221 GOA
involved in phosphatidic acid biosynthetic process IDA
IDA: 通过直接分析推断
22560221 GOA
involved in triglyceride acyl-chain remodeling IDA
IDA: 通过直接分析推断
24511104 GOA
involved in triglyceride biosynthetic process IDA
IDA: 通过直接分析推断
15364929 GOA
involved in triglyceride catabolic process IDA
IDA: 通过直接分析推断
15364929 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in lipid droplet IDA
IDA: 通过直接分析推断
20034933 GOA
located in membrane IDA
IDA: 通过直接分析推断
22560221 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

PNPLA3 蛋白结构

Patatin

Patatin: Patatin-like phospholipase (10 - 178)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 481 a.a.
蛋白主名 其他名称

1-acylglycerol-3-phosphate O-acyltransferase PNPLA3

acylglycerol O-acyltransferase

关联疾病

疾病名称 别名
Fatty Liver Disease

Alcoholic Fatty Liver

Fatty Liver

Fatty Liver, Alcoholic

Fatty Change Of Liver

Hepatic Lipidosis

Steatosis Of Liver

Fatty Liver Alcoholic

Steatohepatitis

Etoh Fatty Liver

Etoh Fatty Liver Metamorphosis

Fatty Etoh Liver Necrosis

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

Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure

Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis

Nash

Nash - [Non-Alcoholic Steatohepatitis]

Non-Alcoholic Steatohepatosis

Lipid Storage Disease

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses

Liver Cirrhosis

Cirrhosis

Cirrhosis Of Liver

CIRRH

Cryptogenic Cirrhosis

Cirrhosis, Cryptogenic

Cirrhosis Nos

Nodular Nonsuppurative Panniculitis

Weber-Christian Disease

Relapsing Febrile Nodular Nonsuppurative Panniculitis

Idiopathic Nodular Panniculitis

Pfeiffer-Weber-Christian Syndrome

Weber-Christian Panniculitis

Panniculitis, Nodular Nonsuppurative

Nodular Non-Suppurative Febrile Panniculitis

Weber - Christian Disease

Panniculitis Nodular Nonsuppurative

Nodular Non-Suppurative Panniculitis

Idiopathic Lobular Panniculitis

Relapsing Febrile Nodular Panniculitis

Wcd

Liver Lipoma

Hepatic Lipoma

Lipoma Of The Liver

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Esophageal Varix

Esophageal Varices

Bleeding Esophageal Varices

Bleeding Oesophageal Varices

Esophageal Varices In Disease Classified Elsewhere, With Bleeding

Esophageal Varices With Bleeding

Esophageal Varices With Bleeding In Disease Ec

Esophageal Varices Without Bleeding

Esophageal Varices Without Mention Of Bleeding

Hepatic Vascular Disease

Vascular Disorder Of Liver

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Diabetes Mellitus

Diabetes

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]

Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

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
Macaca mulatta PNPLA3 VGNC VGNC:76061
Canis familiaris PNPLA3 VGNC VGNC:44754
Rattus norvegicus PNPLA3 RGD RGD:1595843
Mus musculus PNPLA3 MGD MGI:2151796