THBS1 (thrombospondin 1)

基因基本信息

基因基本信息

symbol:
THBS1
locus group:
protein-coding gene
location:
15q14
gene_family:
alias symbol:
TSP1|THBS|TSP|THBS-1|TSP-1
alias name:
thrombospondin-1p180
entrez id:
7057
ensembl gene id:
ENSG00000137801
ucsc gene id:
uc001zkh.4
refseq accession:
NM_003246
hgnc_id:
HGNC:11785
approved reserved:
1989-10-10

基因染色体位置

基因染色体位置

15q14
基因染色体位置图

基因简述

基因简述

THBS1（血小板反应蛋白1，英文全称Thrombospondin-1）是一种由THBS1基因编码的糖蛋白，属于血小板反应蛋白（Thrombospondin）基因家族。该家族共有5个成员（THBS1-5），其共性是均能分泌细胞外基质蛋白，参与细胞间通讯、血管生成调控及组织修复等过程。THBS1的主要生物学功能包括抑制血管生成（通过阻断VEGF等促血管因子）、调节细胞粘附与迁移、调控免疫反应（如抑制T细胞活化）以及参与细胞凋亡（程序性细胞死亡）。其作用位点广泛，存在于细胞外基质中，可与多种受体（如CD36、CD47）及生长因子相互作用。THBS1的突变可能导致功能异常，例如某些突变会削弱其抑制血管生成的能力，与肿瘤进展（如乳腺癌、肺癌）相关；而另一些突变可能影响伤口愈合或增加心血管疾病风险。该基因过表达时可能过度抑制血管形成，导致组织缺血或纤维化；低表达则可能促进肿瘤血管生成或加剧炎症反应。THBS1与多种疾病关联密切：在癌症中通常作为抑癌基因发挥作用，而在动脉粥样硬化中其高表达可能加剧斑块形成。此外，THBS1还参与糖尿病并发症（如肾病）和骨关节炎的病理过程。基因家族成员THBS2-5虽结构相似，但功能各有侧重，例如THBS2更侧重组织发育调控。专业术语解释：血管生成（Angiogenesis）指新血管从现有血管中生长的过程；细胞外基质（Extracellular matrix）是细胞分泌的支持性网状结构；CD36/CD47是细胞表面受体蛋白。目前中文译名"血小板反应蛋白"存在争议，部分文献直译为"凝血酶敏感蛋白"（原英文Thrombospondin）。

The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是一个二硫键连接的同源三聚体蛋白质的一个亚单位。这种蛋白质是粘合剂的糖蛋白介导细胞 - 细胞和细胞 - 基质相互作用。这种蛋白质可以结合到纤维蛋白原，纤连蛋白，层粘连蛋白，V型胶原蛋白和整联的α-V /β-1。这种蛋白已经显示出血小板聚集，血管生成和肿瘤发生中发挥的作用。 [由RefSeq的，2008年7月提供]

OMIM数据库中对THBS1基因的介绍     Wikipedia数据库中对THBS1基因的介绍

基因序列

基因序列

THBS1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

THBS1基因的碱基突变：           仅显示部分snp
rs2412423       rs12442178       rs139062830       rs144926203       rs149095561       rs149905613       rs200380435       rs540440407       rs554693587       rs558131788       rs568459226       rs570769111       rs570823905       rs9719       rs11282       rs753598       rs753599      

基因表达

基因表达

THBS1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
TTGATGGAGACGGTATCCT
58
CCCATCCATATCAGTGTCTC
57
AGATTTAAACAGGATGGTGGC
59
ATGTCACAGAACAAGATGACC
58
CCTGTTCCTGATGCATGTG
59
TGTCAAACACGCTGTTGTC
59
GTGGCAATGGAATTCAGCA
59
GCCACCATCCTGTTTAAATCTC
60
CTGGAAATGTGGTGCTTGTC
60
CAGGCACTTCTTTGCACTC
60
CTGAAATACGAATGTAGAGATCCC
59
AGAAGGTGCAATACCAGCA
59
TGATGGAGACGGTATCCTC
58
CCCATCCATATCAGTGTCTC
57
GGTAGACTAGGGTTGTTTGTC
58
GATGATTAGGGATCTCTACATTCG
59
CCTGTTCCTGATGCATGTG
59
TCAAACACGCTGTTGTCTC
59
GAGATTTAAACAGGATGGTGGC
60
TGTCACAGAACAAGATGACCA
60

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）
E2F1
THBS1
Activation
20976175
NR1I2
THBS1
Activation
21072196
SNAI1
THBS1
Repression
19874710
TP53
THBS1
Activation
10029407; 10101800
TP53
THBS1
Unknown
19826414
USF2
THBS1
Activation
15184388
WT1
THBS1
Activation
15542786
WT1
THBS1
Repression
15618543

基因本体信息

THBS1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

THBS1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005615
A8MZG1 (UniProtKB)
IEA
GO:0006954
A8MZG1 (UniProtKB)
IEA
GO:0008201
A8MZG1 (UniProtKB)
IEA
GO:0016525
A8MZG1 (UniProtKB)
IEA
GO:0050840
A8MZG1 (UniProtKB)
IEA
GO:0000187
P07996 (UniProtKB)
IMP
GO:0001666
P07996 (UniProtKB)
NAS
GO:0001786
P07996 (UniProtKB)
IDA
GO:0001937
P07996 (UniProtKB)
IDA
GO:0001937
P07996 (UniProtKB)
IMP
GO:0001937
P07996 (UniProtKB)
IDA
GO:0001948
P07996 (UniProtKB)
NAS
GO:0001953
P07996 (UniProtKB)
IDA
GO:0001953
P07996 (UniProtKB)
IDA
GO:0001968
P07996 (UniProtKB)
IDA
GO:0002040
P07996 (UniProtKB)
IMP
GO:0002544
P07996 (UniProtKB)
IEP
GO:0002576
P07996 (UniProtKB)
TAS
GO:0002581
P07996 (UniProtKB)
IDA
GO:0002605
P07996 (UniProtKB)
IDA
GO:0005178
P07996 (UniProtKB)
IMP
GO:0005178
P07996 (UniProtKB)
IMP
GO:0005509
P07996 (UniProtKB)
NAS
GO:0005515
P07996 (UniProtKB)
IPI
GO:0005515
P07996 (UniProtKB)
IPI
GO:0005515
P07996 (UniProtKB)
IPI
GO:0005515
P07996 (UniProtKB)
IPI
GO:0005515
P07996 (UniProtKB)
IPI
GO:0005515
P07996 (UniProtKB)
IPI
GO:0005515
P07996 (UniProtKB)
IPI
GO:0005515
P07996 (UniProtKB)
IPI
GO:0005576
P07996 (UniProtKB)
TAS
GO:0005576
P07996 (UniProtKB)
TAS
GO:0005576
P07996 (UniProtKB)
TAS
GO:0005576
P07996 (UniProtKB)
TAS
GO:0005576
P07996 (UniProtKB)
TAS
GO:0005577
P07996 (UniProtKB)
IDA
GO:0005615
P07996 (UniProtKB)
IDA
GO:0005615
P07996 (UniProtKB)
IDA
GO:0005615
P07996 (UniProtKB)
IDA
GO:0005783
P07996 (UniProtKB)
ISS
GO:0005788
P07996 (UniProtKB)
TAS
GO:0005788
P07996 (UniProtKB)
TAS
GO:0005788
P07996 (UniProtKB)
TAS
GO:0006954
P07996 (UniProtKB)
IDA
GO:0006955
P07996 (UniProtKB)
IEP
GO:0006986
P07996 (UniProtKB)
IEA
GO:0007050
P07996 (UniProtKB)
IDA
GO:0007155
P07996 (UniProtKB)
NAS
GO:0008201
P07996 (UniProtKB)
IDA
GO:0008201
P07996 (UniProtKB)
IDA
GO:0009749
P07996 (UniProtKB)
IDA
GO:0009897
P07996 (UniProtKB)
IDA
GO:0009986
P07996 (UniProtKB)
IDA
GO:0009986
P07996 (UniProtKB)
IDA
GO:0009986
P07996 (UniProtKB)
IDA
GO:0010595
P07996 (UniProtKB)
IDA
GO:0010596
P07996 (UniProtKB)
IDA
GO:0010748
P07996 (UniProtKB)
IDA
GO:0010751
P07996 (UniProtKB)
IDA
GO:0010751
P07996 (UniProtKB)
IDA
GO:0010754
P07996 (UniProtKB)
IDA
GO:0010757
P07996 (UniProtKB)
IDA
GO:0010759
P07996 (UniProtKB)
ISS
GO:0010763
P07996 (UniProtKB)
IDA
GO:0016477
P07996 (UniProtKB)
IDA
GO:0016525
P07996 (UniProtKB)
IDA
GO:0016525
P07996 (UniProtKB)
IDA
GO:0016525
P07996 (UniProtKB)
IDA
GO:0016525
P07996 (UniProtKB)
IDA
GO:0016529
P07996 (UniProtKB)
ISS
GO:0017134
P07996 (UniProtKB)
IDA
GO:0018149
P07996 (UniProtKB)
IDA
GO:0030141
P07996 (UniProtKB)
IDA
GO:0030169
P07996 (UniProtKB)
IDA
GO:0030194
P07996 (UniProtKB)
IDA
GO:0030198
P07996 (UniProtKB)
TAS
GO:0030335
P07996 (UniProtKB)
IDA
GO:0030335
P07996 (UniProtKB)
IMP
GO:0030511
P07996 (UniProtKB)
IDA
GO:0030823
P07996 (UniProtKB)
IDA
GO:0031012
P07996 (UniProtKB)
IDA
GO:0031012
P07996 (UniProtKB)
TAS
GO:0031091
P07996 (UniProtKB)
IDA
GO:0031093
P07996 (UniProtKB)
TAS
GO:0032026
P07996 (UniProtKB)
IDA
GO:0032570
P07996 (UniProtKB)
TAS
GO:0032695
P07996 (UniProtKB)
IDA
GO:0032914
P07996 (UniProtKB)
ISS
GO:0034605
P07996 (UniProtKB)
NAS
GO:0034976
P07996 (UniProtKB)
ISS
GO:0036066
P07996 (UniProtKB)
TAS
GO:0040037
P07996 (UniProtKB)
IDA
GO:0042327
P07996 (UniProtKB)
IMP
GO:0042493
P07996 (UniProtKB)
IEP
GO:0042535
P07996 (UniProtKB)
IDA
GO:0042802
P07996 (UniProtKB)
NAS
GO:0043032
P07996 (UniProtKB)
IDA
GO:0043066
P07996 (UniProtKB)
IDA
GO:0043154
P07996 (UniProtKB)
IDA
GO:0043236
P07996 (UniProtKB)
IDA
GO:0043394
P07996 (UniProtKB)
TAS
GO:0043536
P07996 (UniProtKB)
IDA
GO:0043537
P07996 (UniProtKB)
IDA
GO:0043652
P07996 (UniProtKB)
IDA
GO:0045727
P07996 (UniProtKB)
IDA
GO:0045766
P07996 (UniProtKB)
IMP
GO:0045766
P07996 (UniProtKB)
IMP
GO:0048266
P07996 (UniProtKB)
ISS
GO:0050431
P07996 (UniProtKB)
ISS
GO:0050431
P07996 (UniProtKB)
TAS
GO:0050921
P07996 (UniProtKB)
IDA
GO:0051592
P07996 (UniProtKB)
IDA
GO:0051592
P07996 (UniProtKB)
IDA
GO:0051895
P07996 (UniProtKB)
TAS
GO:0051897
P07996 (UniProtKB)
IDA
GO:0051918
P07996 (UniProtKB)
IDA
GO:0070051
P07996 (UniProtKB)
IDA
GO:0070052
P07996 (UniProtKB)
IDA
GO:0070062
P07996 (UniProtKB)
IDA
GO:0070062
P07996 (UniProtKB)
IDA
GO:0070062
P07996 (UniProtKB)
IDA
GO:0070062
P07996 (UniProtKB)
IDA
GO:0070062
P07996 (UniProtKB)
IDA
GO:1902043
P07996 (UniProtKB)
IDA
GO:2000353
P07996 (UniProtKB)
IDA
GO:2000379
P07996 (UniProtKB)
IDA
GO:2001027
P07996 (UniProtKB)
IDA
GO:2001237
P07996 (UniProtKB)
TAS
GO:0031012
P07996 (UniProtKB)
IDA
GO:0031012
P07996 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 THBS1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

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
Diabetic Retinopathy 0.2 1 0 CTD_human_RGD
Mammary Neoplasms 0.123538676 5 0 BeFree_CTD_human_LHGDN
Liver Cirrhosis 0.122367032 2 0 CTD_human_GAD
Schizophrenia 0.120271442 2 0 BeFree_CTD_human
Reperfusion Injury 0.12 1 0 CTD_human
Fibrosis 0.12 1 0 CTD_human
Nephritis, Interstitial 0.12 1 0 CTD_human
Juvenile arthritis 0.12 1 0 CTD_human
Myocardial Infarction 0.094364013 11 2 BeFree_GAD_LHGDN_RGD
Prostatic Neoplasms 0.081085767 5 0 BeFree_RGD

基因相关服务

基因相关服务

联系方式

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