2. Gene
  3. ADH1A - alcohol dehydrogenase 1A (class I), alpha polypeptide Gene

ADH1A - alcohol dehydrogenase 1A (class I), alpha polypeptide Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：醇脱氢酶 1A (I 类) ，α 多肽

种属: Homo sapiens

同用名: ADH1

基因 ID: 124 | 基因类型: protein coding

关于 ADH1A

Cytogenetic location: 4q23 Genomic coordinates (GRCh38): 4:99,276,369-99,290,985 (from NCBI)

This gene has 3 transcripts (splice variants), 372 orthologues and 17 paralogues. Biased expression in liver (RPKM 735.3) and fat (RPKM 36.3).

功能概要

该基因编码醇脱氢酶家族的一个成员。编码的蛋白质是 I 类醇脱氢酶的 α 亚基，它由 α、β 和 γ 亚基的几个同二聚体和异二聚体组成。醇脱氢酶催化醇氧化成醛。该基因在胎儿生命早期的肝脏中活跃，但在成年肝脏中仅微弱活跃。该基因位于 4 号染色体长臂上的一个簇中，另外还有六个乙醇脱氢酶基因，包括编码 β 和 γ 亚基的基因。该基因的突变可能导致某些人格特征和物质依赖的变异。[RefSeq 提供，2010 年 11 月]

This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]

ADH1A 基因产物(1)

mRNA Protein Name
NM_000667.4 NP_000658.1 alcohol dehydrogenase 1A
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 protein binding IPI
IPI: 通过物理相互作用推断
16153155 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in alcohol metabolic process IDA
IDA: 通过直接分析推断
2738060 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

ADH1A 蛋白结构

ADH_N

ADH_N: Alcohol dehydrogenase GroES-like domain (35 - 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

alcohol dehydrogenase 1A

ADH, alpha subunit

关联疾病

疾病名称 别名
Substance Dependence
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
Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia

Autosomal Dominant Hypocalcemia 1

HYPOC1

Hypocalcemia, Autosomal Dominant

Hypercalciuric Hypocalcemia

Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

Familial Hypocalcemia

Hypocalcemia, Familial

Hypoc

Adh

Autosomal Dominant Hypoparathyroidism

Familial Hypercalciuric Hypocalcemia

Ad Hypocalcemia

Autosomal Dominant Hypocalcemia With Bartter Syndrome

Hypoparathyroidism - Autosomal Dominant

Hypocalcemia
Kenny-Caffey Syndrome, Type 1

KCS1

Kenny-Caffey Syndrome Type 1

Autosomal Recessive Kenny-Caffey Syndrome

Kcs

Kenny-Caffey Syndrome, Autosomal Recessive

Kenny-Caffey Syndrome 1

Kenny-Caffey Syndrome Autosomal Recessive

Kenny-Caffey Syndrome-1
Familial Isolated Hypoparathyroidism

Fih
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
Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia

Fbh

Fbhh

Fhh

Familial Benign Hypocalciuric Hypercalcemia

Hypocalciuric Hypercalcemia, Familial, Type 1
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00366 ADH1A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ADH1A MGD MGI:87921
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