1. Gene
  2. ALDH3A1 - aldehyde dehydrogenase 3 family member A1 Gene

ALDH3A1 - aldehyde dehydrogenase 3 family member A1 Gene

中文名称:醛脱氢酶 3 家族成员 A1

种属: Homo sapiens

同用名: ALDH3; ALDHIII

基因 ID: 218 | 基因类型: protein coding

关于 ALDH3A1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,737,984-19,748,298 (from NCBI)

This gene has 17 transcripts (splice variants), 370 orthologues and 17 paralogues. Biased expression in esophagus (RPKM 74.7), stomach (RPKM 49.1) and 1 other tissue.

功能概要

醛脱氢酶将各种醛氧化成相应的酸。它们参与酒精衍生乙醛的解毒以及皮质类固醇、生物胺、神经递质和脂质过氧化的代谢。由该基因编码的酶形成细胞质同型二聚体,优先氧化芳香族和中链 (6 个碳或更多) 饱和和不饱和醛底物。它被认为可以促进角膜对紫外线和 4-hydroxy-2-nonenal 诱导的氧化损伤的抵抗力。该基因位于 17 号染色体上的 Smith-Magenis 综合征区域内。已鉴定出编码相同蛋白质的多个选择性剪接变体。[RefSeq 提供,2008 年 9 月]

Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The Enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]

ALDH3A1 基因产物(6)

mRNA Protein Name
NM_001135167.1 NP_001128639.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform 1
NM_001330150.2 NP_001317079.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform 2
NM_001135168.1 NP_001128640.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform 1
XM_011523731.3 XP_011522033.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform X2
XM_047435595.1 XP_047291551.1 aldehyde dehydrogenase, dimeric NADP-preferring isoform X1
NM_000691.5 NP_000682.3 aldehyde dehydrogenase, dimeric NADP-preferring isoform 1
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 (NADP+) activity IDA
IDA: 通过直接分析推断
1737758 GOA
enables aldehyde dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
1737758 GOA
enables benzaldehyde dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
4015840 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular aldehyde metabolic process IDA
IDA: 通过直接分析推断
1737758 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

ALDH3A1 蛋白结构

Aldedh

Aldedh: Aldehyde dehydrogenase family (3 - 425)

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

aldehyde dehydrogenase, dimeric NADP-preferring

aldehyde dehydrogenase isozyme 3

aldehyde dehydrogenase type III

stomach aldehyde dehydrogenase

ALDH3A1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ALDH3A1 P30838 POT1 Homo sapiens Q9NUX5 21044950
种属内
ALDH3A1 P30838 POT1 Homo sapiens Q9NUX5 21044950
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ALDH3A1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7477 ALDH3A1 Protein, Human (HEK293, His) P30838 (M1-Q452) ≥95%
HY-P75568 ALDH3A1 Protein, Human (sf9, His) AAH04370.1 (M1-H453) ≥95%

ALDH3A1 抗体

目录号 产品名 应用 反应物种
HY-P81375 ALDH3A1 Antibody (YA1120) IHC-P Human

关联疾病

疾病名称 别名
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Hyperprolinemia

Proline Oxidase Deficiency

Hyperprolinemia Type 1

Proline Hydrogenase Deficiency

Prolinemia

Pyrroline Carboxylate Dehydrogenase Deficiency

Pyrroline-5-Carboxylate Dehydrogenase Deficiency

Proline Dehydrogenase Deficiency

Hyperprolinemia Type 2

Sjogren-Larsson Syndrome

Sjögren-Larsson Syndrome

SLS

Faldh Deficiency

Fatty Aldehyde Dehydrogenase Deficiency

Fatty Acid Alcohol Oxidoreductase Deficiency

Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia

Sjogren Larsson Syndrome

Fatty Alcohol:Nad+ Oxidoreductase Deficiency

Sjogren-Larsson'S Syndrome

Fadh Deficiency

Fao Deficiency

Congenital Icthyosis Mental Retardation Spasticity Syndrome

Ichthyosis Oligophrenia Syndrome

Sjoegren-Larsson Syndrome

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

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 ALDH3A1 RGD RGD:2088
Canis familiaris ALDH3A1 VGNC VGNC:37786
Macaca mulatta ALDH3A1 VGNC VGNC:69786
Mus musculus ALDH3A1 MGD MGI:1353451
Bos taurus ALDH3A1 VGNC VGNC:25813
Felis catus ALDH3A1 VGNC VGNC:59736
Others ALDH3A1 NCBI
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