1. Gene
  2. ALDH1A1 - aldehyde dehydrogenase 1 family member A1 Gene

ALDH1A1 - aldehyde dehydrogenase 1 family member A1 Gene

中文名称:醛脱氢酶 1 家族成员 A1

种属: Homo sapiens

同用名: ALDC; ALDH1; HEL-9; HEL12; PUMB1; ALDH11; RALDH1; ALDH-E1; HEL-S-53e

基因 ID: 216 | 基因类型: protein coding

关于 ALDH1A1

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:72,900,671-72,953,053 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues and 17 paralogues. Broad expression in liver (RPKM 321.0), duodenum (RPKM 249.1) and 18 other tissues.

功能概要

该基因编码的蛋白质属于醛脱氢酶家族。醛脱氢酶是酒精代谢主要途径中继醇脱氢酶之后的下一个酶。肝脏中有两种主要的醛脱氢酶同工酶,胞质和线粒体,它们由不同的基因编码,可以通过它们的电泳迁移率、动力学特性和亚细胞定位来区分。该基因编码细胞溶质同工酶。小鼠研究表明,通过其在视黄醇代谢中的作用,该基因还可能参与调节对高脂肪饮食的代谢反应。[RefSeq 提供,2011 年 3 月]

The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next Enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]

ALDH1A1 基因产物(1)

mRNA Protein Name
NM_000689.5 NP_000680.2 aldehyde dehydrogenase 1A1
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 3-deoxyglucosone dehydrogenase activity IDA
IDA: 通过直接分析推断
17175089 GOA
enables aldehyde dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
4015840 GOA
enables aldehyde dehydrogenase (NAD+) activity IMP
IMP: 通过突变表型推断
15623782 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular detoxification of aldehyde IMP
IMP: 通过突变表型推断
15623782 GOA
involved in fructosamine catabolic process IDA
IDA: 通过直接分析推断
17175089 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
12941160 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

ALDH1A1 蛋白结构

Aldedh

Aldedh: Aldehyde dehydrogenase family (29 - 492)

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

aldehyde dehydrogenase 1A1

3-deoxyglucosone dehydrogenase

ALDH class 1

ALHDII

RALDH 1

acetaldehyde dehydrogenase 1

aldehyde dehydrogenase 1, soluble

aldehyde dehydrogenase, liver cytosolic

epididymis luminal protein 12

epididymis luminal protein 9

epididymis secretory sperm binding protein Li 53e

retinal dehydrogenase 1

retinaldehyde dehydrogenase 1

重组 ALDH1A1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7474 ALDH1A1 Protein, Human (His) P00352 (M1-S501) ≥95%

关联疾病

疾病名称 别名
Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria

Ssadh Deficiency

Gamma-Hydroxybutyric Aciduria

Gaba Metabolic Defect

SSADHD

Ssadh

Succinate-Semialdehyde Dehydrogenase Deficiency

Gamma-Hydroxybutyricaciduria

4-Hydroxybutyricaciduria

Gamma-Hydroxybutyric Acidemia

Succinate Semialdehyde Dehydrogenase Deficiency

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Leukemia, Myeloid, Acute

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Anaerobic Meningitis
Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dihydrotestosterone Receptor Deficiency

Dhtr Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

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

Alcohol Dependence, 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

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
Rattus norvegicus ALDH1A1 RGD RGD:2087
Canis familiaris ALDH1A1 VGNC VGNC:37782
Felis catus ALDH1A1 VGNC VGNC:97345
Bos taurus ALDH1A1 VGNC VGNC:25808
Macaca mulatta ALDH1A1 VGNC VGNC:81351
Others ALDH1A1 NCBI