SOD1 (superoxide dismutase 1)

基因基本信息

基因基本信息

symbol:
SOD1
locus group:
protein-coding gene
location:
21q22.11
gene_family:
alias symbol:
IPOA
alias name:
None
entrez id:
6647
ensembl gene id:
ENSG00000142168
ucsc gene id:
uc002ypa.4
refseq accession:
NM_000454
hgnc_id:
HGNC:11179
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

21q22.11
基因染色体位置图

基因简述

基因简述

SOD1（超氧化物歧化酶1，superoxide dismutase 1）是一种重要的抗氧化酶，属于金属酶家族，其功能是将有害的超氧自由基（O2-）转化为过氧化氢（H2O2）和氧气，从而保护细胞免受氧化应激损伤。SOD1主要在细胞质中发挥作用，但也存在于线粒体膜间隙。该基因编码的蛋白质需要铜（Cu）和锌（Zn）作为辅因子来维持其活性。SOD1是SOD基因家族的一员，该家族还包括SOD2（线粒体型）和SOD3（细胞外型），它们的共同特点是催化超氧自由基的歧化反应，但分布和金属辅因子需求不同。SOD1突变（如A4V、G93A等）会导致蛋白质错误折叠和聚集，影响其正常功能，并与家族性肌萎缩侧索硬化症（ALS，俗称渐冻症）密切相关，突变体可能通过获得毒性功能（gain-of-function）引发运动神经元退化。SOD1过表达可能增强细胞的抗氧化能力，但过量H2O2积累可能反而导致氧化损伤；而SOD1表达降低会使细胞对氧化应激更敏感，加速衰老或神经退行性病变。在癌症中，SOD1可能发挥双重作用：正常水平下抑制肿瘤，但某些癌细胞会利用其过表达抵抗化疗诱导的氧化应激。该基因还参与炎症调控，其突变或表达异常可能与帕金森病、阿尔茨海默病等神经疾病相关。SOD1蛋白的稳定性依赖二硫键形成和金属伴侣蛋白（如CCS）的协助，这些特性使其成为研究蛋白质错误折叠疾病的模型分子。

The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白结合的铜和锌离子，并负责在体内破坏自由超氧自由基两种同工酶之一。该编码同工酶是一种可溶性胞质蛋白，充当同二聚体以天然存在的，但有害超氧自由基转化为分子氧和过氧化氢。另同工酶是一种线粒体蛋白。在这个基因的突变有牵连的家族性肌萎缩侧索硬化症的原因。稀有转录物变体已经报道了这个基因。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

SOD1基因的碱基突变：           仅显示部分snp
rs4816405       rs6650814       rs7277748       rs11910115       rs16988395       rs17878855       rs17880326       rs17880795       rs17881051       rs17881180       rs17881274       rs17881415       rs17881581       rs17881711       rs17882503       rs17882967       rs17882997      

基因表达

基因表达

SOD1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AGCAGAAGGAAAGTAATGGAC
58
TGAACATGGAATCCATGCAG
59
TGAACCCAGGAAAGTAATGGA
59
AACATGGAATCCATGCAGG
58
AGATAATACAGCAGGCTGTACC
60
TCTCTTCATCCTTTGGCCC
59
CGAAGGCCGAAAGTAATGG
59
ATGAACATGGAATCCATGCAG
59
AGTGCAGGGAAAGTAATGGA
59
GAACATGGAATCCATGCAGG
59
GAGCAGAAGGAAAGTAATGGAC
59
AACATGGAATCCATGCAGG
58
CGAAGGCCGAAAGTAATGG
59
TGAACATGGAATCCATGCAG
59
AGATAATACAGCAGGCTGTACC
60
CTCTTCATCCTTTGGCCCA
60
CCAGTGCTATTCTTAAGACGC
59
ATTACTTTCCTGGGTTCATGC
59
TAGTGCAGGGAAAGTAATGGA
59
AACATGGAATCCATGCAGG
58

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
CEBPD
SOD1
Activation
20385105
EGR1
SOD1
Activation
9867871
KLF4
SOD1
Repression
23370975
MSX2
SOD1
Activation
22824755
MTF1
SOD1
Activation
15378601
NFE2L2
SOD1
Activation
22493435
PPARD
SOD1
Activation
18048767
SP1
SOD1
Activation
8921911; 9867871
SP1
SOD1
Repression
11724400

基因本体信息

SOD1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

SOD1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004784
H7BYH4 (UniProtKB)
IEA
GO:0005654
H7BYH4 (UniProtKB)
IDA
GO:0005737
H7BYH4 (UniProtKB)
IDA
GO:0019430
H7BYH4 (UniProtKB)
IEA
GO:0046872
H7BYH4 (UniProtKB)
IEA
GO:0055114
H7BYH4 (UniProtKB)
IEA
GO:0000187
P00441 (UniProtKB)
ISS
GO:0000302
P00441 (UniProtKB)
TAS
GO:0000303
P00441 (UniProtKB)
IDA
GO:0001541
P00441 (UniProtKB)
ISS
GO:0001819
P00441 (UniProtKB)
IDA
GO:0001890
P00441 (UniProtKB)
NAS
GO:0001895
P00441 (UniProtKB)
ISS
GO:0001975
P00441 (UniProtKB)
IEA
GO:0002262
P00441 (UniProtKB)
ISS
GO:0002576
P00441 (UniProtKB)
TAS
GO:0004784
P00441 (UniProtKB)
IDA
GO:0004784
P00441 (UniProtKB)
IDA
GO:0004784
P00441 (UniProtKB)
IDA
GO:0004784
P00441 (UniProtKB)
EXP
GO:0004784
P00441 (UniProtKB)
IDA
GO:0004784
P00441 (UniProtKB)
IDA
GO:0004784
P00441 (UniProtKB)
TAS
GO:0005507
P00441 (UniProtKB)
IDA
GO:0005515
P00441 (UniProtKB)
IPI
GO:0005515
P00441 (UniProtKB)
IPI
GO:0005515
P00441 (UniProtKB)
IPI
GO:0005515
P00441 (UniProtKB)
IPI
GO:0005576
P00441 (UniProtKB)
TAS
GO:0005615
P00441 (UniProtKB)
IDA
GO:0005615
P00441 (UniProtKB)
IDA
GO:0005634
P00441 (UniProtKB)
IDA
GO:0005634
P00441 (UniProtKB)
IDA
GO:0005634
P00441 (UniProtKB)
IDA
GO:0005634
P00441 (UniProtKB)
IDA
GO:0005654
P00441 (UniProtKB)
IDA
GO:0005737
P00441 (UniProtKB)
IDA
GO:0005737
P00441 (UniProtKB)
IDA
GO:0005737
P00441 (UniProtKB)
IDA
GO:0005737
P00441 (UniProtKB)
IDA
GO:0005737
P00441 (UniProtKB)
IDA
GO:0005737
P00441 (UniProtKB)
IDA
GO:0005737
P00441 (UniProtKB)
IDA
GO:0005737
P00441 (UniProtKB)
IDA
GO:0005739
P00441 (UniProtKB)
IDA
GO:0005758
P00441 (UniProtKB)
TAS
GO:0005759
P00441 (UniProtKB)
NAS
GO:0005764
P00441 (UniProtKB)
IEA
GO:0005777
P00441 (UniProtKB)
ISS
GO:0005777
P00441 (UniProtKB)
IDA
GO:0005829
P00441 (UniProtKB)
IDA
GO:0005829
P00441 (UniProtKB)
TAS
GO:0005829
P00441 (UniProtKB)
TAS
GO:0005829
P00441 (UniProtKB)
TAS
GO:0005829
P00441 (UniProtKB)
TAS
GO:0006749
P00441 (UniProtKB)
ISS
GO:0006801
P00441 (UniProtKB)
ISS
GO:0006801
P00441 (UniProtKB)
IDA
GO:0006879
P00441 (UniProtKB)
ISS
GO:0007283
P00441 (UniProtKB)
ISS
GO:0007566
P00441 (UniProtKB)
ISS
GO:0007566
P00441 (UniProtKB)
NAS
GO:0007569
P00441 (UniProtKB)
IMP
GO:0007605
P00441 (UniProtKB)
ISS
GO:0007626
P00441 (UniProtKB)
ISS
GO:0008089
P00441 (UniProtKB)
ISS
GO:0008090
P00441 (UniProtKB)
ISS
GO:0008217
P00441 (UniProtKB)
ISS
GO:0008270
P00441 (UniProtKB)
IDA
GO:0009408
P00441 (UniProtKB)
ISS
GO:0010033
P00441 (UniProtKB)
IDA
GO:0019226
P00441 (UniProtKB)
ISS
GO:0019430
P00441 (UniProtKB)
ISS
GO:0019430
P00441 (UniProtKB)
IC
GO:0030346
P00441 (UniProtKB)
IDA
GO:0031012
P00441 (UniProtKB)
IDA
GO:0031045
P00441 (UniProtKB)
IEA
GO:0031410
P00441 (UniProtKB)
IDA
GO:0031667
P00441 (UniProtKB)
IEA
GO:0032287
P00441 (UniProtKB)
ISS
GO:0032839
P00441 (UniProtKB)
IDA
GO:0032930
P00441 (UniProtKB)
IDA
GO:0033081
P00441 (UniProtKB)
NAS
GO:0034465
P00441 (UniProtKB)
IEA
GO:0035865
P00441 (UniProtKB)
IEA
GO:0040014
P00441 (UniProtKB)
ISS
GO:0042493
P00441 (UniProtKB)
ISS
GO:0042542
P00441 (UniProtKB)
ISS
GO:0042554
P00441 (UniProtKB)
IEA
GO:0042802
P00441 (UniProtKB)
IPI
GO:0042803
P00441 (UniProtKB)
NAS
GO:0042803
P00441 (UniProtKB)
NAS
GO:0043025
P00441 (UniProtKB)
IDA
GO:0043065
P00441 (UniProtKB)
IC
GO:0043085
P00441 (UniProtKB)
IDA
GO:0043087
P00441 (UniProtKB)
IDA
GO:0043209
P00441 (UniProtKB)
IEA
GO:0043234
P00441 (UniProtKB)
IDA
GO:0043524
P00441 (UniProtKB)
ISS
GO:0045471
P00441 (UniProtKB)
ISS
GO:0045541
P00441 (UniProtKB)
IDA
GO:0045859
P00441 (UniProtKB)
IDA
GO:0046620
P00441 (UniProtKB)
NAS
GO:0046677
P00441 (UniProtKB)
IEA
GO:0046688
P00441 (UniProtKB)
IEA
GO:0046716
P00441 (UniProtKB)
ISS
GO:0048365
P00441 (UniProtKB)
IDA
GO:0048538
P00441 (UniProtKB)
NAS
GO:0048678
P00441 (UniProtKB)
ISS
GO:0050665
P00441 (UniProtKB)
ISS
GO:0050665
P00441 (UniProtKB)
IDA
GO:0051087
P00441 (UniProtKB)
IPI
GO:0051881
P00441 (UniProtKB)
IMP
GO:0055114
P00441 (UniProtKB)
IEA
GO:0060047
P00441 (UniProtKB)
IDA
GO:0060052
P00441 (UniProtKB)
ISS
GO:0060087
P00441 (UniProtKB)
ISS
GO:0060088
P00441 (UniProtKB)
ISS
GO:0070062
P00441 (UniProtKB)
IDA
GO:0070062
P00441 (UniProtKB)
IDA
GO:0070062
P00441 (UniProtKB)
IDA
GO:0071276
P00441 (UniProtKB)
IEA
GO:0071318
P00441 (UniProtKB)
IEA
GO:0072593
P00441 (UniProtKB)
IDA
GO:0097332
P00441 (UniProtKB)
IEA
GO:1902177
P00441 (UniProtKB)
IMP
GO:1904115
P00441 (UniProtKB)
IEA
GO:0005886
P00441 (UniProtKB)
IDA
GO:0005886
P00441 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 SOD1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

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

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
AMYOTROPHIC LATERAL SCLEROSIS 1 0.52 434 31 BeFree_CLINVAR_CTD_human_MGD_UNIPROT
Amyotrophic Lateral Sclerosis 0.437872512 1045 18 BeFree_CTD_human_GAD_LHGDN_ORPHANET
Hypertensive disease 0.201628651 9 0 BeFree_CTD_human_RGD
Diabetes Mellitus, Experimental 0.2 2 0 CTD_human_RGD
Hyperthyroidism 0.2 2 0 CTD_human_RGD
Motor Neuron Disease 0.163520083 79 5 BeFree_CTD_human_LHGDN
Down Syndrome 0.139573609 45 0 BeFree_CTD_human_LHGDN
Diabetes Mellitus, Non-Insulin-Dependent 0.131368221 12 1 BeFree_CTD_human_GAD
Atherosclerosis 0.128630058 7 0 BeFree_CTD_human_GAD_LHGDN
Nerve Degeneration 0.128173051 5 0 CTD_human_LHGDN

基因相关服务

基因相关服务

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