GAPDH (glyceraldehyde-3-phosphate dehydrogenase)

基因基本信息

基因基本信息

symbol:
GAPDH
locus group:
protein-coding gene
location:
12p13.31
gene_family:
alias symbol:
None
alias name:
None
entrez id:
2597
ensembl gene id:
ENSG00000111640
ucsc gene id:
uc001qop.4
refseq accession:
NM_002046
hgnc_id:
HGNC:4141
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

12p13.31
基因染色体位置图

基因简述

基因简述

GAPDH（甘油醛-3-磷酸脱氢酶）是一种在糖酵解途径中起关键作用的酶，负责催化甘油醛-3-磷酸转化为1,3-二磷酸甘油酸，同时还原NAD+为NADH。除了在能量代谢中的核心作用，GAPDH还参与多种非代谢功能，如DNA修复、RNA转运、细胞凋亡调控和膜融合等。GAPDH在几乎所有组织中广泛表达，因其稳定性常被用作内参基因。该基因突变可能导致酶活性丧失，影响细胞能量供应，甚至与神经退行性疾病如阿尔茨海默病和帕金森病相关。GAPDH过表达可能促进肿瘤细胞增殖和转移，而表达降低则可能导致细胞能量危机和凋亡。GAPDH属于甘油醛-3-磷酸脱氢酶基因家族，该家族成员在结构和功能上具有高度保守性，均含有NAD+结合域和催化活性位点。GAPDH还能与多种蛋白质相互作用，如Siah1（参与凋亡）和微管蛋白（影响细胞骨架），其亚细胞定位变化（如核转位）与细胞应激反应相关。在疾病方面，GAPDH异常表达或活性改变与糖尿病并发症、癌症和神经退行性疾病密切相关，使其成为潜在的治疗靶点。

This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

该基因编码的甘油醛-3-磷酸脱氢酶蛋白家族的一个成员。所编码的蛋白质已被鉴定为是根据它来执行机制上不同功能能力的兼职蛋白。该基因的产物催化碳水化合物代谢的重要产生能量的步骤，在无机磷酸盐和烟酰胺腺嘌呤二核苷酸（NAD）存在下甘油醛-3-磷酸盐的可逆氧化磷酸化。所编码的蛋白质已另外被鉴定为具有在细胞核尿嘧啶DNA糖基化酶活性。此外，此蛋白质包含具有对大肠杆菌，绿脓杆菌，和白色念珠菌的抗微生物活性的肽。已在小鼠的类似蛋白质的研究分配各种附加功能，包括核蛋白质的亚硝基化，mRNA稳定性的调节，并作为巨噬细胞的细胞表面上的运铁蛋白受体。类似于此轨迹许多假存在于人类基因组。选择性剪接结果在多个抄本变形。 [由RefSeq的，2014年11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

GAPDH基因的碱基突变：           仅显示部分snp
rs1109       rs1060619       rs1060620       rs1060621       rs1062429       rs1062436       rs1062442       rs1065691       rs1136666       rs1803621       rs1803622       rs2886093       rs3203507       rs3211592       rs3211598       rs3211599       rs3211600      

基因表达

基因表达

GAPDH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
CATTTCCTGGTATGACAACGA
58
GGGTCTTACTCCTTGGAGG
58
ATCATCAGCAATGCCTCCT
59
TTCCACGATACCAAAGTTGTC
58
CCTCCTGTTCGACAGTCAG
59
CCCATACGACTGCAAAGAC
58
CCTCCTGTTCGACAGTCAG
59
CCATACGACTGCAAAGACC
58
TCATTTCCTGGTATGACAACGA
59
GGTCTTACTCCTTGGAGGC
59
GATCATCAGCAATGCCTCC
58
TCCACGATACCAAAGTTGTC
58
TCATTTCCTGGTATGACAACGA
59
GTCTTACTCCTTGGAGGCC
59
TCAAGATCATCAGCAATGCC
58
CGATACCAAAGTTGTCATGGA
58
CCTCCTGTTCGACAGTCAG
59
CATACGACTGCAAAGACCC
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）
CEBPA
GAPDH
Unknown
12842822
CEBPD
GAPDH
Unknown
12842822
HIF1A
GAPDH
Unknown
11955624

基因本体信息

GAPDH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

GAPDH基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005737
E7EUT5 (UniProtKB)
IDA
GO:0005886
E7EUT5 (UniProtKB)
IDA
GO:0016620
E7EUT5 (UniProtKB)
IEA
GO:0031965
E7EUT5 (UniProtKB)
IDA
GO:0043231
E7EUT5 (UniProtKB)
IDA
GO:0055114
E7EUT5 (UniProtKB)
IEA
GO:0000226
P04406 (UniProtKB)
ISS
GO:0004365
P04406 (UniProtKB)
ISS
GO:0004365
P04406 (UniProtKB)
EXP
GO:0004365
P04406 (UniProtKB)
NAS
GO:0004365
P04406 (UniProtKB)
NAS
GO:0004365
P04406 (UniProtKB)
EXP
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005515
P04406 (UniProtKB)
IPI
GO:0005634
P04406 (UniProtKB)
ISS
GO:0005634
P04406 (UniProtKB)
IDA
GO:0005737
P04406 (UniProtKB)
ISS
GO:0005737
P04406 (UniProtKB)
IDA
GO:0005811
P04406 (UniProtKB)
IDA
GO:0005829
P04406 (UniProtKB)
ISS
GO:0005829
P04406 (UniProtKB)
IDA
GO:0005829
P04406 (UniProtKB)
TAS
GO:0005829
P04406 (UniProtKB)
TAS
GO:0005886
P04406 (UniProtKB)
IDA
GO:0006094
P04406 (UniProtKB)
TAS
GO:0008017
P04406 (UniProtKB)
ISS
GO:0015630
P04406 (UniProtKB)
ISS
GO:0016020
P04406 (UniProtKB)
IDA
GO:0016241
P04406 (UniProtKB)
TAS
GO:0017148
P04406 (UniProtKB)
IMP
GO:0017148
P04406 (UniProtKB)
IDA
GO:0030529
P04406 (UniProtKB)
IDA
GO:0031965
P04406 (UniProtKB)
IDA
GO:0031982
P04406 (UniProtKB)
IDA
GO:0035605
P04406 (UniProtKB)
ISS
GO:0035606
P04406 (UniProtKB)
ISS
GO:0042802
P04406 (UniProtKB)
IPI
GO:0042802
P04406 (UniProtKB)
IPI
GO:0043231
P04406 (UniProtKB)
IDA
GO:0048471
P04406 (UniProtKB)
IEA
GO:0050661
P04406 (UniProtKB)
IEA
GO:0050821
P04406 (UniProtKB)
ISS
GO:0051287
P04406 (UniProtKB)
IEA
GO:0051402
P04406 (UniProtKB)
ISS
GO:0061621
P04406 (UniProtKB)
TAS
GO:0070062
P04406 (UniProtKB)
IDA
GO:0070062
P04406 (UniProtKB)
IDA
GO:0070062
P04406 (UniProtKB)
IDA
GO:0070062
P04406 (UniProtKB)
IDA
GO:0070062
P04406 (UniProtKB)
IDA
GO:0070062
P04406 (UniProtKB)
IDA
GO:0070062
P04406 (UniProtKB)
IDA
GO:0070062
P04406 (UniProtKB)
IDA
GO:0070062
P04406 (UniProtKB)
IDA
GO:0071346
P04406 (UniProtKB)
IDA
GO:0097452
P04406 (UniProtKB)
IDA
GO:0097452
P04406 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 GAPDH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
Liver carcinoma 0.122442977 11 0 BeFree_CTD_human
Squamous cell carcinoma 0.120542884 3 0 BeFree_CTD_human
Degenerative polyarthritis 0.12 1 0 CTD_human
Mouth Neoplasms 0.12 1 0 CTD_human
Anoxia 0.12 1 0 CTD_human
Acute Coronary Syndrome 0.12 1 0 CTD_human
Necrosis 0.12 1 0 CTD_human
Osteoporosis 0.12 1 0 CTD_human
Esophageal Neoplasms 0.12 1 0 CTD_human
Diabetic Retinopathy 0.080271442 2 0 BeFree_RGD

基因相关服务

基因相关服务

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