1. Gene
  2. ADH1B - alcohol dehydrogenase 1B (class I), beta polypeptide Gene

ADH1B - alcohol dehydrogenase 1B (class I), beta polypeptide Gene

中文名称:乙醇脱氢酶 1B (I 类) ,β 多肽

种属: Homo sapiens

同用名: ADH2; HEL-S-117

基因 ID: 125 | 基因类型: protein coding

关于 ADH1B

Cytogenetic location: 4q23 Genomic coordinates (GRCh38): 4:99,304,971-99,321,401 (from NCBI)

This gene has 7 transcripts (splice variants), 368 orthologues, 17 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 1714.7), fat (RPKM 1144.5) and 3 other tissues.

功能概要

该基因编码的蛋白质是乙醇脱氢酶家族的一员。该酶家族的成员代谢多种底物,包括乙醇、视黄醇、其他脂肪醇、羟基类固醇和脂质过氧化产物。这种编码的蛋白质由 alpha、beta 和 gamma 亚基的几个同二聚体和异二聚体组成,对乙醇氧化表现出高活性,并在乙醇分解代谢中起主要作用。编码 alpha、beta 和 gamma 亚基的三个基因在基因组片段中串联组织为基因簇。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2013 年 11 月]

The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this Enzyme family metabolize a wide variety of substrates, including ethanol, retinol, Other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ADH1B 基因产物(2)

mRNA Protein Name
NM_000668.6 NP_000659.2 all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 1
NM_001286650.2 NP_001273579.1 all-trans-retinol dehydrogenase [NAD(+)] ADH1B isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables alcohol dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
9982 GOA
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
15369820 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
9982 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in retinoid metabolic process IDA
IDA: 通过直接分析推断
15369820 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

ADH1B 蛋白结构

ADH_N

ADH_N: Alcohol dehydrogenase GroES-like domain (36 - 161)

ADH_zinc_N

ADH_zinc_N: Zinc-binding dehydrogenase (203 - 332)

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

all-trans-retinol dehydrogenase [NAD(+)] ADH1B

ADH, beta subunit

重组 ADH1B 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72071 ADH1B Protein, Human (His-SUMO) P00325 (S2-F375) ≥95%

关联疾病

疾病名称 别名
Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Fetal Alcohol Syndrome

Fetal Alcohol Spectrum Disorders

Arbd

Arnd

Alcohol-Related Birth Defects

Alcohol-Related Neurodevelopmental Disorder

Fas

Fasd

Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk

Alcohol Related Birth Defect

Alcohol Related Neurodevelopmental Disorder

Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk

Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk

Dysmorphism Due To Alcohol

Fetal Etoh Syndrome

Alcoholic Liver Cirrhosis

Alcoholic Cirrhosis

Portal Cirrhosis

Alcoholic Cirrhosis Of Liver

Liver Cirrhosis, Alcoholic

Laennec'S Cirrhosis

Laennec'S Cirrhosis, Alcoholic

Alcohol Cirrhosis

Alcoholic Laennec Cirrhosis

Alcoholic Cirrhosis Nos

Etoh Cirrhosis

Alcohol Hepatic Cirrhosis

Alcohol Liver Cirrhosis

Laennec Cirrhosis

Alcoholic Pancreatitis

Pancreatitis, Alcoholic

Pancreatitis Alcoholic

Alcohol-Related Birth Defects

Arbd

Alcohol-Related Birth Defect

Alcohol Related Birth Defect

Fetal Alcohol Syndrome

Aspartylglucosaminuria

Aspartylglycosaminuria

Glycosylasparaginase Deficiency

Aspartylglucosaminidase Deficiency

Aga Deficiency

AGU

Aspartylglucosamidase Deficiency

Glycoasparaginase

Aspartylglucosamidase Deficiency

Hyperammonemia, Type Iii

Liver Cirrhosis

Cirrhosis

Cirrhosis Of Liver

CIRRH

Cryptogenic Cirrhosis

Cirrhosis, Cryptogenic

Cirrhosis Nos

Pancreatitis

Mumps Pancreatitis

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

Fetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorders

Fetal Alcohol Syndrome

Alcoholic Hepatitis

Acute Alcoholic Hepatitis

Acute Alcoholic Liver Disease

Hepatitis, Alcoholic

Hepatitis Alcoholic

Ah - [Alcoholic Hepatitis]

Ethanol Hepatitis

Substance Dependence
Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Alcohol Use Disorder

Alcohol Abuse

Alcoholism

Ethanol Abuse

Alcohol Addiction

Alcohol Dependence

Alcoholic Intoxication, Chronic

Alcohol-Related Disorders

Hypopharynx Cancer

Hypopharyngeal Cancer

Malignant Neoplasm Of Hypopharynx

Hypopharyngeal Neoplasms

Hypopharyngeal Carcinoma

Malignant Hypopharyngeal Tumor

Malignant Tumor Of Hypopharynx

Malignant Tumour Of Hypopharynx

Hypocalciuric Hypercalcemia, Familial, Type Ii

HHC2

Familial Hypocalciuric Hypercalcemia 2

Fbh2

Familial Hypocalciuric Hypercalcemia Type 2

Hypocalciuric Hypercalcemia, Type Ii

Fhh Type 2

Familial Benign Hypercalcemia, Type Ii

Hypercalcemia, Familial Benign, Type Ii

Hypocalciuric Hypercalcemia Type Ii

Familial Benign Hypercalcemia, Type 2

Hypercalcemia, Familial Benign Type 2

Hypocalciuric Hypercalcemia, Familial, Type 2

Hypocalciuric Hypercalcemia, Familial 2

Familial Benign Hypercalcemia Type Ii

Hypocalciuric Hypercalcemia-2

Alcoholic Cardiomyopathy

Cardiomyopathy, Alcoholic

Alcohol-Induced Heart Muscle Disease

Dilated Cardiomyopathy Secondary To Alcohol

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

Hypocalciuric Hypercalcemia, Familial, Type I

HHC1

Familial Hypocalciuric Hypercalcemia 1

Fhh1

Familial Benign Hypercalcemia 1

Fbh1

Hypocalciuric Hypercalcemia, Type I

Fhh Type 1

Hhc

Fhh

Hypercalcemia, Familial Benign

Hypocalciuric Hypercalcemia Type I

Familial Hypocalciuric Hypercalcemia Type 1

Hypocalciuric Hypercalcemia, Familial, Type 1

Familial Hypocalciuric Hypercalcemia Type I

Familial Benign Hypercalcemia Type 1

Hypercalcemia, Familial Benign Type 1

Hypocalciuric Hypercalcemia, Familial 1

Familial Benign Hypocalciuric Hypercalcemia 1

Fbhh1

Substance Abuse

Substance-Related Disorders

Substance Abuse Problem

Cocaine Dependence
Pancreatitis, Hereditary

Hereditary Pancreatitis

Chronic Pancreatitis

Hereditary Chronic Pancreatitis

Hp

Pancreatitis, Chronic, Susceptibility To

PCTT

Hpc

Pancreatitis, Chronic

Pancreatitis, Chronic, Protection Against

Autosomal Dominant Hereditary Pancreatitis

Familial Pancreatitis

Cp

Pancreatitis Hereditary

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

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

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
Mus musculus ADH1B MGD MGI:87921