1. Gene
  2. CES1 - carboxylesterase 1 Gene

CES1 - carboxylesterase 1 Gene

中文名称:羧酸酯酶 1

种属: Homo sapiens

同用名: CEH; REH; TGH; ACAT; CE-1; CES2; HMSE; SES1; HMSE1; PCE-1; hCE-1

基因 ID: 1066 | 基因类型: protein coding

关于 CES1

Cytogenetic location: 16q12.2 Genomic coordinates (GRCh38): 16:55,802,851-55,833,096 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 667 orthologues, 13 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 737.7), gall bladder (RPKM 239.9) and 3 other tissues.

功能概要

该基因编码羧酸酯酶大家族的成员。该家族成员负责各种异生素 (如可卡因和海洛因) 以及具有酯、硫酯或酰胺键的内源性底物的水解或酯交换。它们可能参与脂肪酰和胆固醇酯的代谢,并可能在血脑屏障系统中发挥作用。这种酶是主要的肝酶,在肝脏药物清除中发挥作用。该基因的突变导致羧酸酯酶 1 缺乏。已发现该基因编码三种不同亚型的三种转录变体。[RefSeq 提供,2010 年 6 月]

This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and Cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

CES1 基因产物(3)

mRNA Protein Name
NM_001025194.2 NP_001020365.1 liver carboxylesterase 1 isoform b precursor
NM_001025195.2 NP_001020366.1 liver carboxylesterase 1 isoform a precursor
NM_001266.5 NP_001257.4 liver carboxylesterase 1 isoform c precursor
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 carboxylesterase activity IDA
IDA: 通过直接分析推断
8218228 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sterol ester esterase activity IDA
IDA: 通过直接分析推断
11015575 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to cholesterol IMP
IMP: 通过突变表型推断
18762277 GOA
involved in cellular response to low-density lipoprotein particle stimulus IMP
IMP: 通过突变表型推断
18762277 GOA
involved in cholesterol biosynthetic process IDA
IDA: 通过直接分析推断
11015575 GOA
involved in cholesterol homeostasis IMP
IMP: 通过突变表型推断
18762277 GOA
involved in cholesterol metabolic process IDA
IDA: 通过直接分析推断
16024911 GOA
involved in epithelial cell differentiation IDA
IDA: 通过直接分析推断
21492153 GOA
involved in medium-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
11015575 GOA
involved in negative regulation of cholesterol storage IMP
IMP: 通过突变表型推断
16971496 GOA
involved in positive regulation of cholesterol efflux IMP
IMP: 通过突变表型推断
16971496 GOA
involved in positive regulation of cholesterol metabolic process IMP
IMP: 通过突变表型推断
16971496 GOA
involved in regulation of bile acid biosynthetic process IMP
IMP: 通过突变表型推断
18599737 GOA
involved in regulation of bile acid secretion IMP
IMP: 通过突变表型推断
18599737 GOA
involved in reverse cholesterol transport IMP
IMP: 通过突变表型推断
18599737 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
16024911 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
16024911 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

CES1 蛋白结构

COesterase

COesterase: Carboxylesterase family (2 - 547)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 567 a.a.
蛋白主名 其他名称

liver carboxylesterase 1

acyl coenzyme A:cholesterol acyltransferase

重组 CES1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7730 Carboxylesterase 1 Protein, Human (HEK293, His) P23141-3 (H19-E562) ≥95%

CES1 抗体

目录号 产品名 应用 反应物种
HY-P82583 Liver Carboxylesterase 1 Antibody (YA2328) WB, IP, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Drug Metabolism, Altered, Ces1-Related
Egasyn

Esterase 22

Es22

Alveolar Echinococcosis

Echinococcus Multilocularis Infection

Echinococcosis

Alveolococcosis

Multilocular Hydatid

Small Fox Tapeworm

Cystic Echinococcosis

Echinococcus Granulosus Infection

Echinococcus Granulosus Infection Of Lung

Echinococcus Granulosus

Echinococcus Granulosus Infection Of Thyroid

Echinococcus Granulosus Infectious Disease

Echinococcus Granulosus Infectious Disease Of Liver

Echinococcus Granulosus Infectious Disease Of Thyroid

Liver Echinococcus Granulosus

Lung Echinococcus Granulosus

Thyroid Echinococcus Granulosus

Unilocular Echinococcosis

Unilocular Hydatid Disease

Hydatid Disease

Hydatidosis

Echinococcosis

Reye Syndrome

Reye'S Syndrome

Rasmussen Encephalitis

Fatty Liver With Encephalopathy

Rasmussen'S Encephalitis

Re

Rs

Rasmussen Syndrome

Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome

Reye Encephalopathy

Large Intestine Adenoma

Adenoma Of Large Intestine

Polycystic Echinococcosis

Human Polycystic Hydatid Disease

Neotropical Echinococcosis

Echinococcosis

Hydatidosis

Echinococcal Disease

Echinococcosis Of Liver

Hepatic Echinococcosis

Hydatid Disease

Liver Echinococcus

Pulmonary Echinococcosis

Hydatids

Echinococcosis, Hepatic

Echinococcosis, Pulmonary

Unilocular Echinococcosis

Echinococcus Disease

Echinococcus Granulosus Infection

Echinococcus Multilocularis Infection

Dog Tapeworm Infection

Echinococcus Granulosus Infestation

Echinococciasis

Cystic Echinococcosis

Taeniasis

Beef Tapeworm Infection

Infection By Taeniarhynchus Saginatus

Taenia Saginata Infectious Disease

Taenia Saginata Infection

Pork Tapeworm Infection

Armed Tapeworm Infection

Infection By Taenia Solium

Intestinal Taenia Solium Infection

Pork Tapeworm

Taenia Solium Taeniasis

Adult Pork Tapeworm Infection

Adult Pork Tapeworm

Beef Tapeworm

Infection By Taenia Saginata

Unarmed Tapeworm Infection

Taenia Saginata Taeniasis

Infection Due To Adult Tapeworm Taenia Saginata

Mediocanellata Taenia Infection

Infestation By Taenia Saginata

Infestation By Taenia Mediocanellata

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Retinitis Pigmentosa 44

RP44

Retinitis Pigmentosa, Type 44

Glossopharyngeal Neuralgia

Glossopharyngeal Nerve Diseases

Parasitic Helminthiasis Infectious Disease

Helminthiasis

Intestinal Helminthiasis

Helminth Infection

Helminthosis

Worm Infection

Worm Infections

Helminth Infections

Intestinal Infection Due To Class Cestoda And/Or Class Trematoda And/Or Phylum Nemata

Parasitic Enteritis

Metazoal Dysentery

Intestinal Worms Nos

Cysticercosis

Neurocysticercosis

Submacular Cysticercosis

Intestinal Taenia Solium Infection

Pork Tapeworm Infection

Tapeworm Infection: Intestinal Taenia Solum

Tapeworm Infection: Pork

Tenia Solium Infectious Disease

Taeniasis

Tenia Solium Infection

Cysticerciasis Infection Due To Larval Form Of Taenia Solium

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 CES1 VGNC VGNC:52121
Rattus norvegicus CES1 RGD RGD:70896
Mus musculus CES1 NCBI