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  2. EPHX1 - epoxide hydrolase 1 Gene

EPHX1 - epoxide hydrolase 1 Gene

中文名称:环氧化物水解酶 1

种属: Homo sapiens

同用名: MEH; EPHX; EPOX; HYL1

基因 ID: 2052 | 基因类型: protein coding

关于 EPHX1

Cytogenetic location: 1q42.12 Genomic coordinates (GRCh38): 1:225,810,124-225,845,563 (from NCBI)

This gene has 5 transcripts (splice variants), 239 orthologues and is associated with 1 phenotype. Broad expression in liver (RPKM 307.4), adrenal (RPKM 287.9) and 19 other tissues.

功能概要

环氧化物水解酶是一种关键的生物转化酶,可将环氧化物从芳香族化合物的降解转化为反式二氢二醇,后者可以结合并排出体外。环氧化物水解酶在环氧化物的活化和解毒中起作用。该基因的突变会导致先兆子痫、环氧化物水解酶缺乏症或环氧化物水解酶活性增加。已发现该基因编码相同蛋白质的可变剪接转录本变体。[RefSeq 提供,2008 年 12 月]

Epoxide Hydrolase is a critical biotransformation Enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide Hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, Epoxide Hydrolase deficiency or increased Epoxide Hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]

EPHX1 基因产物(10)

mRNA Protein Name
NM_000120.4 NP_000111.1 epoxide hydrolase 1 isoform a
NM_001136018.4 NP_001129490.1 epoxide hydrolase 1 isoform a precursor
NM_001291163.2 NP_001278092.1 epoxide hydrolase 1 isoform a precursor
NM_001378426.1 NP_001365355.1 epoxide hydrolase 1 isoform a precursor
NM_001378427.1 NP_001365356.1 epoxide hydrolase 1 isoform a precursor
NM_001378428.1 NP_001365357.1 epoxide hydrolase 1 isoform b
NM_001378429.1 NP_001365358.1 epoxide hydrolase 1 isoform c precursor
NM_001378430.1 NP_001365359.1 epoxide hydrolase 1 isoform c precursor
NM_001378431.1 NP_001365360.1 epoxide hydrolase 1 isoform d precursor
NM_001378432.1 NP_001365361.1 epoxide hydrolase 1 isoform e precursor

EPHX1 蛋白结构

EHN

EHN: Epoxide hydrolase N terminus (49 - 161)

Abhydrolase_1

Abhydrolase_1: alpha/beta hydrolase fold (178 - 394)

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  • 455 a.a.
蛋白主名 其他名称

epoxide hydrolase 1

epoxide hydratase

重组 EPHX1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72184 EPHX1 Protein, Human (His-SUMO) P07099 (M1-Q455) ≥95%

关联疾病

疾病名称 别名
Familial Hypercholanemia

Hypercholanemia, Familial

Hereditary Hypercholanemia

Eclampsia

Eclampsia In Puerperium

Postpartum Eclampsia

Eclampsia, Postpartum

Puerperal Eclampsia

Fetal Hydantoin Syndrome

Dilantin Embryopathy

Phenytoin Embryopathy

Fetal Dihydantoin Syndrome

Phenytoin Embryofetopathy

Dysmorphism Due To Hydantoin

Pre-Eclampsia

Preeclampsia

Gestational Hypertension

Hypertension Induced By Pregnancy

Pre-Eclamptic Toxaemia

Pregnancy Associated Hypertension

Proteinuric Hypertension Of Pregnancy

Hypertension, Pregnancy-Induced, Susceptibility To

Preeclampsia/Eclampsia

Pregnancy Toxemia

Toxaemia Of Pregnancy

Gestational Proteinuric Hypertension

Pregnancy-Induced Hypertension

Toxemia Of Pregnancy

Preeclampsia, Susceptibility To

Transient Hypertension Of Pregnancy

Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria

Gestational Hypertension Nos

Mild Proteinuric Hypertension Of Pregnancy

Pih - [Pregnancy-Induced Hypertension]

Pregnancy-Induced Hypertension Nos

Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria

Pe - [Pre-Eclampsia]

Pre-Eclampsia Nos

Pre-Eclamptic Nos

Pregnancy Pre-Eclampsia

Puerperal Pre-Eclampsia

Pre-Eclampsia Toxaemia

Toxaemia In Pregnancy

Pet - [Pre-Eclamptic Toxaemia]

Maternal Toxaemia

Byssinosis

Flax-Dressers' Disease

Cotton Mill Fever

Stripper'S Asthma

Monday Morning Fever

Cotton Workers' Lung Disease

Cotton-Dust Asthma

Mill Fever

Lung Fibrosis With Byssinosis

Airway Disease Due To Cotton Dust

Respiratory Tract Disorder Due To Cotton Dust

Strippers' Disease

Flax-Dressers' Disorder

Strippers' Asthma

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Coumarin Resistance

Warfarin Resistance

Warfarin Sensitivity

Coumadin Sensitivity

Warfarin Response

Poor Metabolism Of Coumarin

Coumarin, Poor Metabolism Of

CMRES

Pulmonary Disease, Chronic Obstructive

Chronic Obstructive Pulmonary Disease

COPD

Pulmonary Disease, Chronic Obstructive, Severe Early-Onset

Chronic Obstructive Lung Disease

Chronic Obstructive Airway Disease

Pulmonary Disease, Chronic Obstructive, Susceptibility To

Cold

Severe Early-Onset Chronic Obstructive Pulmonary Disease

Pulmonary Disease Chronic Obstructive

Pulmonary Disease, Obstructive, Chronic, Susceptibility To

Chronic Obstructive Pulmonary Disease Of Horses

Common Cold

Upper Respiratory Infections

Copd - [Chronic Obstructive Pulmonary Disease]

Coad - [Chronic Obstructive Airways Disease]

Cold - [Chronic Obstructive Lung Disease]

Chronic Airway Disease Nos

Chronic Airways Limitation, Unspecified

Chronic Obstructed Airway, Unspecified

Chronic Obstructive Airway Disease, Unspecified

Chronic Obstructive Airway, Unspecified

Obstructive Lung Disease Nos

Chronic Obstructive Lung Disease Nos

Chronic Obstructive Lung Nos

Obstructive Pulmonary Disease Nos

Exacerbation Copd Nos

Acute Exacerbation Copd

Dyskeratosis Congenita, Autosomal Dominant 2

Autosomal Recessive Dyskeratosis Congenita 4

DKCA2

Autosomal Dominant Dyskeratosis Congenita 2

DKCB4

Dyskeratosis Congenita, Autosomal Dominant, 2

Dyskeratosis Congenita Scoggins Type

Dyskeratosis Congenita, Autosomal Recessive, 4

Dyskeratosis Congenita, Autosomal Recessive 4

Dyskeratosis Congenita, Autosomal Dominant, Type 2

Bronchitis

Chronic Bronchitis

Acute Bronchitis

Bronchitis, Chronic

Acute Bronchitis And Bronchiolitis

Chest Cold

Chest Infection

Ci - Chest Infection

Recurrent Wheezy Bronchitis

Bronchitis Chronic

Lower Respiratory Tract Infection

Acute Lower Respiratory Tract Infection

Chronic Bronchitis Nos

Senile Bronchitis

Bronchitis Nos In Those Under L5 Years Of Age

Bronchitis Nos

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome

Toxic Epidermal Necrolysis

Drug-Induced Stevens Johnson Syndrome

Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum

Susceptibility To Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

Lyell'S Syndrome

Lyell Syndrome

Severe Cutaneous Adverse Reaction, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced

Stevens-Johnson Syndrome, Susceptibility To

Toxic Epidermal Necrolysis, Susceptibility To

Sjs/Ten

Susceptibility To Severe Cutaneous Adverse Reaction Ity To

Mycoplasma-Induced Stevens Johnson Syndrome

Dermatostomatitis, Stevens Johnson Type

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum

Sjs-Ten

Toxic Epidermolysis

SJS

Dermatostomatitis Stevens Johnson Type

Ten

Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]

Ten - [Toxic Epidermal Necrolysis]

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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 EPHX1 VGNC VGNC:40415
Felis catus EPHX1 VGNC VGNC:61910
Rattus norvegicus EPHX1 RGD RGD:2557
Bos taurus EPHX1 VGNC VGNC:28541
Mus musculus EPHX1 MGD MGI:95405
Macaca mulatta EPHX1 VGNC VGNC:72245
Others EPHX1 NCBI