STUB1 (STIP1 homology and U-box containing protein 1)

基因基本信息

基因基本信息

symbol:
STUB1
locus group:
protein-coding gene
location:
16p13.3
gene_family:
U-box domain containing|Tetratricopeptide repeat domain containing
alias symbol:
UBOX1|CHIP|SDCCAG7|HSPABP2|NY-CO-7
alias name:
None
entrez id:
10273
ensembl gene id:
ENSG00000103266
ucsc gene id:
uc002cit.4
refseq accession:
NM_005861
hgnc_id:
HGNC:11427
approved reserved:
1999-11-25

基因染色体位置

基因染色体位置

16p13.3
基因染色体位置图

基因简述

基因简述

STUB1（也称为CHIP，C-terminus of Hsc70-interacting protein）是一个重要的泛素连接酶（E3 ubiquitin ligase），属于U-box蛋白家族。它的主要功能是通过泛素-蛋白酶体系统（ubiquitin-proteasome system, UPS）调控蛋白质的降解，从而维持细胞内蛋白质稳态（proteostasis）。STUB1通过与分子伴侣Hsc70/Hsp70结合，识别错误折叠或受损的蛋白质，并为其添加泛素标签（ubiquitination），标记这些蛋白以便被蛋白酶体降解。STUB1在多种细胞过程中发挥作用，包括热休克反应、蛋白质质量控制、细胞凋亡和信号转导。STUB1的突变与其功能异常相关，可能导致神经退行性疾病，如脊髓小脑共济失调16型（SCAR16）和某些类型的帕金森病。这些突变通常导致STUB1的泛素连接酶活性丧失或降低，进而导致错误折叠蛋白的积累，引发细胞毒性。STUB1的过表达可能增强错误折叠蛋白的清除，但也可能干扰正常的蛋白质稳态，影响其他依赖泛素化的信号通路。相反，STUB1表达降低可能导致蛋白质聚集和细胞应激增加，进而诱发神经退行性病变。STUB1属于U-box蛋白家族，该家族的成员均含有U-box结构域（一种类似于RING结构域的泛素连接酶活性域），能够介导蛋白质的泛素化。U-box蛋白通常参与应激反应、细胞周期调控和DNA修复等过程。STUB1还与多种疾病相关蛋白（如α-突触核蛋白、tau蛋白和亨廷顿蛋白）相互作用，影响它们的聚集和毒性。因此，STUB1在神经保护中具有潜在的治疗价值，但其精确调控至关重要，以避免对正常细胞功能的不利影响。

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

该基??因编码一个含有蛋白质三十四肽重复和U盒，其功能如同一个泛素连接酶/ cochaperone。所编码的蛋白质结合并泛素化震荡同源71 kDa蛋白（HSPA8）和DNA聚合酶β（POLB），其他目标之一。突变这个基因导致脊髓小脑性共济失调，常染色体隐性遗传16剪接结果在多个抄本变形。有对2号染色体这个基因假基因[由RefSeq的，2014年6月提供]

OMIM数据库中对STUB1基因的介绍     Wikipedia数据库中对STUB1基因的介绍

基因序列

基因序列

STUB1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

STUB1基因的碱基突变：           仅显示部分snp
rs6597       rs1046112       rs3204090       rs3216838       rs10221050       rs11642472       rs11861355       rs41292279       rs61742062       rs77261518       rs79318927       rs79687861       rs111472162       rs111609461       rs111905485       rs113640386       rs113649865      

基因表达

基因表达

STUB1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
GAGAGCTATGATGAGGCCA
59
TTCTTCGCGATTCGAAGAG
58
GATGAGAAGAGGAAGAAGCGA
60
GCTCAAAGCTGATCTTGCC
60
CTGGAACAGCATTGAGGAG
58
ATGTACTTGTCGTGCTTGG
58
AGCTATGATGAGGCCATCG
59
CTTCTTCGCGATTCGAAGAG
59
AGCTATGATGAGGCCATCG
59
TTCTTCGCGATTCGAAGAG
58
AAACCACGAGGGTGATGAG
60
GGATGTCTCGCTTCTTCCT
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

STUB1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

STUB1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005654
H3BS86 (UniProtKB)
IDA
GO:0005737
H3BS86 (UniProtKB)
IDA
GO:0004842
H3BTA3 (UniProtKB)
IEA
GO:0016567
H3BTA3 (UniProtKB)
IEA
GO:0004842
H3BUD0 (UniProtKB)
IEA
GO:0016567
H3BUD0 (UniProtKB)
IEA
GO:0000151
Q9UNE7 (UniProtKB)
IDA
GO:0000151
Q9UNE7 (UniProtKB)
IDA
GO:0000151
Q9UNE7 (UniProtKB)
IDA
GO:0000209
Q9UNE7 (UniProtKB)
IDA
GO:0000209
Q9UNE7 (UniProtKB)
IDA
GO:0000209
Q9UNE7 (UniProtKB)
IMP
GO:0001664
Q9UNE7 (UniProtKB)
IPI
GO:0004842
Q9UNE7 (UniProtKB)
IDA
GO:0004842
Q9UNE7 (UniProtKB)
TAS
GO:0004842
Q9UNE7 (UniProtKB)
IMP
GO:0004842
Q9UNE7 (UniProtKB)
TAS
GO:0004842
Q9UNE7 (UniProtKB)
TAS
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005515
Q9UNE7 (UniProtKB)
IPI
GO:0005654
Q9UNE7 (UniProtKB)
IDA
GO:0005737
Q9UNE7 (UniProtKB)
IDA
GO:0005737
Q9UNE7 (UniProtKB)
IDA
GO:0005737
Q9UNE7 (UniProtKB)
IDA
GO:0005783
Q9UNE7 (UniProtKB)
IDA
GO:0005829
Q9UNE7 (UniProtKB)
TAS
GO:0005829
Q9UNE7 (UniProtKB)
TAS
GO:0005829
Q9UNE7 (UniProtKB)
TAS
GO:0005886
Q9UNE7 (UniProtKB)
IDA
GO:0006281
Q9UNE7 (UniProtKB)
IEA
GO:0006511
Q9UNE7 (UniProtKB)
IMP
GO:0006515
Q9UNE7 (UniProtKB)
IDA
GO:0016567
Q9UNE7 (UniProtKB)
IDA
GO:0016567
Q9UNE7 (UniProtKB)
IMP
GO:0016874
Q9UNE7 (UniProtKB)
IEA
GO:0019899
Q9UNE7 (UniProtKB)
IPI
GO:0019900
Q9UNE7 (UniProtKB)
IPI
GO:0030018
Q9UNE7 (UniProtKB)
IEA
GO:0030512
Q9UNE7 (UniProtKB)
TAS
GO:0030544
Q9UNE7 (UniProtKB)
IDA
GO:0030544
Q9UNE7 (UniProtKB)
IDA
GO:0030579
Q9UNE7 (UniProtKB)
IDA
GO:0030674
Q9UNE7 (UniProtKB)
TAS
GO:0030911
Q9UNE7 (UniProtKB)
IDA
GO:0030968
Q9UNE7 (UniProtKB)
IEA
GO:0031371
Q9UNE7 (UniProtKB)
TAS
GO:0031398
Q9UNE7 (UniProtKB)
IDA
GO:0031398
Q9UNE7 (UniProtKB)
IDA
GO:0031625
Q9UNE7 (UniProtKB)
IPI
GO:0031647
Q9UNE7 (UniProtKB)
IDA
GO:0031943
Q9UNE7 (UniProtKB)
IDA
GO:0032091
Q9UNE7 (UniProtKB)
IEA
GO:0032436
Q9UNE7 (UniProtKB)
IDA
GO:0034450
Q9UNE7 (UniProtKB)
ISS
GO:0036503
Q9UNE7 (UniProtKB)
IEA
GO:0038128
Q9UNE7 (UniProtKB)
TAS
GO:0042405
Q9UNE7 (UniProtKB)
IDA
GO:0042787
Q9UNE7 (UniProtKB)
IMP
GO:0042803
Q9UNE7 (UniProtKB)
ISS
GO:0042803
Q9UNE7 (UniProtKB)
IDA
GO:0043161
Q9UNE7 (UniProtKB)
IDA
GO:0045111
Q9UNE7 (UniProtKB)
IDA
GO:0046332
Q9UNE7 (UniProtKB)
IDA
GO:0051443
Q9UNE7 (UniProtKB)
IEA
GO:0051604
Q9UNE7 (UniProtKB)
TAS
GO:0051787
Q9UNE7 (UniProtKB)
IDA
GO:0051865
Q9UNE7 (UniProtKB)
IDA
GO:0051865
Q9UNE7 (UniProtKB)
IDA
GO:0051879
Q9UNE7 (UniProtKB)
IDA
GO:0051879
Q9UNE7 (UniProtKB)
IDA
GO:0061630
Q9UNE7 (UniProtKB)
IDA
GO:0061630
Q9UNE7 (UniProtKB)
IDA
GO:0061630
Q9UNE7 (UniProtKB)
IMP
GO:0061630
Q9UNE7 (UniProtKB)
IDA
GO:0070062
Q9UNE7 (UniProtKB)
IDA
GO:0070534
Q9UNE7 (UniProtKB)
IDA
GO:0071218
Q9UNE7 (UniProtKB)
IDA
GO:0090035
Q9UNE7 (UniProtKB)
IDA
GO:1904264
Q9UNE7 (UniProtKB)
IMP
GO:0004842
V9GYH3 (UniProtKB)
IEA
GO:0016567
V9GYH3 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 STUB1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
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 0.24 4 0 ORPHANET_UNIPROT
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 0.08 0 0 MGD
Ataxia, Spinocerebellar 0.00272435 1 0 LHGDN
Schizophrenia 0.00272435 1 0 LHGDN
Alzheimer's Disease 0.00272435 1 0 LHGDN
Bardet-Biedl Syndrome 0.00272435 1 0 LHGDN
Ataxia 0.001085767 4 0 BeFree
Breast Carcinoma 0.000814326 3 0 BeFree
Malignant neoplasm of breast 0.000814326 3 0 BeFree
Pancreatic carcinoma 0.000542884 2 0 BeFree

基因相关服务

基因相关服务

联系方式

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