ALDH3A1 (aldehyde dehydrogenase 3 family member A1)

symbol:
ALDH3A1
locus group:
protein-coding gene
location:
17p11.2
gene_family:
Aldehyde dehydrogenases
alias symbol:
None
alias name:
aldehyde dehydrogenase, dimeric NA…
entrez id:
218
ensembl gene id:
ENSG00000108602
ucsc gene id:
uc002gwj.4
refseq accession:
NM_000691
hgnc_id:
HGNC:405
approved reserved:
1986-01-01
17p11.2
基因染色体位置图

ALDH3A1(醛脱氢酶3家族成员A1)属于醛脱氢酶(ALDH)基因家族,该家族由19个成员组成,主要功能是催化醛类物质的氧化代谢,参与解毒、抗氧化和细胞分化等过程。ALDH3A1在角膜、肝脏、肺和胃等组织中高表达,尤其在角膜上皮细胞中含量丰富,是维持角膜透明性的关键蛋白。其表达产物是一种NAD(P)+依赖的醛脱氢酶,能够代谢多种内源性和外源性醛类(如4-羟基壬烯醛),减少氧化应激损伤。该酶还具有非催化功能,能直接结合紫外线吸收分子,保护角膜免受紫外线伤害。ALDH3A1的突变可能导致角膜混浊或干燥症,并与多种疾病相关,如酒精代谢异常、某些癌症(肺癌、胃癌)和氧化应激相关疾病。在肿瘤中,ALDH3A1的高表达常与化疗耐药性相关,因其可代谢化疗药物(如环磷酰胺)产生的毒性醛类;同时它作为癌症干细胞标志物,促进肿瘤增殖和转移。若ALDH3A1过表达,会增强细胞抗氧化能力但可能促进肿瘤进展;而表达降低则导致醛类积累,加剧氧化损伤,诱发角膜病变或酒精不耐受。ALDH基因家族的共性在于均含有保守的醛脱氢酶结构域,通过相似机制催化醛类氧化,但各成员具有组织特异性分布和底物偏好性。ALDH3A1与家族其他成员(如ALDH2)协同参与乙醇代谢,其独特之处在于强紫外线防护功能及在角膜中的结构性作用。研究该基因对理解眼病、癌症耐药及氧化应激疾病的机制具有重要意义。

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]

醛脱氢酶氧化各种醛为相应的酸。它们参与醇衍生乙醛的解毒和皮质类固醇,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饱和细胞质同型二聚体,其优先氧化芳族和中链(6个碳原子或更多个)和不饱和醛底物。它被认为是促进紫外线和在角膜4-羟基-2-壬烯醛诱导的氧化损伤性。该基因位于史密斯马盖尼斯综合征区域内染色体上17多个可变剪接变体,编码相同的蛋白质,也已确定。 [由RefSeq的,2008年9月提供]

ALDH3A1基因的碱基序列:[NCBI]
Loading Gene Browser...
ALDH3A1基因的碱基突变:           仅显示部分snp
rs887239       rs887240       rs887241       rs917520       rs1042172       rs1042183       rs2072327       rs2072328       rs2072329       rs2072330       rs2228100       rs3744692       rs3744693       rs3744694       rs3744695       rs3760485       rs3760486      

ALDH3A1基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AGTCACTGAAAGAGTTCTACGG
60
CCATCACCCTCTGGAAGTG
60
ACCTGCACAAGAATGAATGG
59
ATCTCCTCTAGGACGTACAC
58
GCTGTGTCAAAGAATGAATGGA
60
GCTTCTGGATCATGTACTCGA
60
GCAGGAGCTGAATGAATGG
59
GAGCTTCTGGATCATGTACTC
58
CCTGCACAAGAATGAATGGA
59
GAGCTTCTGGATCATGTACTC
58
CCCTGACTACATCCTCTGTG
59
CCGAAGATCTCTTTCAGTGAC
59
GCTGTGTCAAAGAATGAATGGA
60
GCTTCTGGATCATGTACTCGA
60
AGTCACTGAAAGAGTTCTACGG
60
CCATCACCCTCTGGAAGTG
60
AGTCACTGAAAGAGTTCTACGG
60
CCATCACCCTCTGGAAGTG
60
CCTGCACAAGAATGAATGGA
59
GAGCTTCTGGATCATGTACTC
58
      尚未收录相关数据

ALDH3A1基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

ALDH3A1基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0005654
A8MYB8 (UniProtKB)
IDA
GO:0005737
A8MYB8 (UniProtKB)
IDA
GO:0005886
A8MYB8 (UniProtKB)
IDA
GO:0016620
A8MYB8 (UniProtKB)
IEA
GO:0043231
A8MYB8 (UniProtKB)
IDA
GO:0055114
A8MYB8 (UniProtKB)
IEA
GO:0005654
C9JKT2 (UniProtKB)
IDA
GO:0005737
C9JKT2 (UniProtKB)
IDA
GO:0016620
C9JKT2 (UniProtKB)
IEA
GO:0043231
C9JKT2 (UniProtKB)
IDA
GO:0055114
C9JKT2 (UniProtKB)
IEA
GO:0005654
C9JMC5 (UniProtKB)
IDA
GO:0005737
C9JMC5 (UniProtKB)
IDA
GO:0016620
C9JMC5 (UniProtKB)
IEA
GO:0043231
C9JMC5 (UniProtKB)
IDA
GO:0055114
C9JMC5 (UniProtKB)
IEA
GO:0016620
E9PNN6 (UniProtKB)
IEA
GO:0055114
E9PNN6 (UniProtKB)
IEA
GO:0005654
I3L1H6 (UniProtKB)
IDA
GO:0005737
I3L1H6 (UniProtKB)
IDA
GO:0016491
I3L1H6 (UniProtKB)
IEA
GO:0043231
I3L1H6 (UniProtKB)
IDA
GO:0055114
I3L1H6 (UniProtKB)
IEA
GO:0005737
I3L3I9 (UniProtKB)
IDA
GO:0005886
I3L3I9 (UniProtKB)
IDA
GO:0016620
I3L3I9 (UniProtKB)
IEA
GO:0055114
I3L3I9 (UniProtKB)
IEA
GO:0016491
I3L3W9 (UniProtKB)
IEA
GO:0055114
I3L3W9 (UniProtKB)
IEA
GO:0005654
I3L4E5 (UniProtKB)
IDA
GO:0005737
I3L4E5 (UniProtKB)
IDA
GO:0016491
I3L4E5 (UniProtKB)
IEA
GO:0043231
I3L4E5 (UniProtKB)
IDA
GO:0055114
I3L4E5 (UniProtKB)
IEA
GO:0001666
P30838 (UniProtKB)
IEA
GO:0004028
P30838 (UniProtKB)
IBA
GO:0004029
P30838 (UniProtKB)
IDA
GO:0004030
P30838 (UniProtKB)
TAS
GO:0005515
P30838 (UniProtKB)
IPI
GO:0005615
P30838 (UniProtKB)
IDA
GO:0005654
P30838 (UniProtKB)
IDA
GO:0005737
P30838 (UniProtKB)
IDA
GO:0005783
P30838 (UniProtKB)
IDA
GO:0005829
P30838 (UniProtKB)
ISS
GO:0005829
P30838 (UniProtKB)
TAS
GO:0005886
P30838 (UniProtKB)
IDA
GO:0006081
P30838 (UniProtKB)
IDA
GO:0006805
P30838 (UniProtKB)
TAS
GO:0007568
P30838 (UniProtKB)
IEA
GO:0007584
P30838 (UniProtKB)
IEA
GO:0008106
P30838 (UniProtKB)
IDA
GO:0008284
P30838 (UniProtKB)
IEA
GO:0016021
P30838 (UniProtKB)
IEA
GO:0018479
P30838 (UniProtKB)
IDA
GO:0042493
P30838 (UniProtKB)
IEA
GO:0043231
P30838 (UniProtKB)
IDA
GO:0051384
P30838 (UniProtKB)
IEA
GO:0051591
P30838 (UniProtKB)
IEA
GO:0055114
P30838 (UniProtKB)
IDA

可能调控 ALDH3A1基因的相关microRNA:     

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Malignant neoplasm of breast 0.005005506 3 0 BeFree_GAD
Lung Neoplasms 0.002995792 2 0 BeFree_LHGDN
Schizophrenia 0.002638474 1 0 BeFree_GAD
Neoplasms, Germ Cell and Embryonal 0.002367032 1 0 GAD
Autistic Disorder 0.002367032 1 0 GAD
Tobacco Use Disorder 0.002367032 1 0 GAD
ovarian neoplasm 0.002367032 1 0 GAD
Mammary Neoplasms 0.002367032 1 0 GAD
childhood brain tumor 0.002367032 1 0 GAD
Liver carcinoma 0.001357209 5 0 BeFree

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