CAV1 (caveolin 1)

基因基本信息

基因基本信息

symbol:
CAV1
locus group:
protein-coding gene
location:
7q31.2
gene_family:
alias symbol:
None
alias name:
None
entrez id:
857
ensembl gene id:
ENSG00000105974
ucsc gene id:
uc003vif.3
refseq accession:
NM_001753
hgnc_id:
HGNC:1527
approved reserved:
1993-11-02

基因染色体位置

基因染色体位置

7q31.2
基因染色体位置图

基因简述

基因简述

CAV1（Caveolin-1）是一种编码小窝蛋白（caveolin）的基因，属于CAV基因家族，该家族还包括CAV2和CAV3。CAV基因家族的主要共性是编码小窝蛋白，这些蛋白是细胞膜上小窝（caveolae）的主要结构成分，小窝是细胞膜上的特殊内陷结构，参与信号转导、胆固醇运输和细胞膜稳定等过程。CAV1在多种组织中表达，尤其在脂肪细胞、内皮细胞和平滑肌细胞中高表达。CAV1的主要生物学功能包括调控细胞膜结构、参与胆固醇稳态、介导信号转导（如抑制eNOS活性影响血管舒张）以及参与内吞作用。CAV1的表达产物还能与多种信号分子（如Src激酶、G蛋白等）相互作用，负向调节其活性。CAV1突变可能导致功能丧失或异常，与多种疾病相关，如先天性全身性脂肪营养不良（由于脂肪代谢异常）、肺动脉高压（血管功能紊乱）和某些癌症（如乳腺癌、前列腺癌，因信号通路失调促进肿瘤进展）。CAV1过表达可能抑制细胞增殖并促进细胞衰老，而降低表达则可能增强某些生长因子信号通路活性，导致细胞异常增殖或转移。在癌症中，CAV1可能发挥双重作用，既作为肿瘤抑制因子（通过抑制致癌信号），又在某些情况下支持肿瘤进展（如通过促进转移）。此外，CAV1表达变化可能影响其他基因（如MMPs、VEGF）的功能，进而影响细胞外基质重塑或血管生成。

The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]

由该基因编码的支架蛋白是在大多数细胞类型中发现的小窝质膜的主要成分。蛋白质链接整合亚基的酪氨酸激酶FYN，在耦合整到的Ras-ERK途径的引发步骤和促进细胞周期进展。的基因是一种肿瘤抑制基因的候选和所述的Ras-P42 / 44促分裂原活化激酶级联的负调节剂。小窝蛋白1和小窝2都位于彼此相邻的7染色体和快递colocalizing形成一个稳定的杂寡聚复合物的蛋白质。在这种基因突变与伯拉迪尼-塞普先天性脂肪代谢障碍相关联。另外剪接转录编码的小窝1. [由RefSeq的，2010年3月提供]α和β亚型

OMIM数据库中对CAV1基因的介绍     Wikipedia数据库中对CAV1基因的介绍

基因序列

基因序列

CAV1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

CAV1基因的碱基突变：           仅显示部分snp
rs6867       rs6868       rs8713       rs9920       rs10029       rs729949       rs917664       rs926198       rs926199       rs926200       rs959173       rs976739       rs976740       rs1022436       rs1049314       rs1049334       rs1049337      

基因表达

基因表达

CAV1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
GAAACCTCGTCTTCCAACAC
59
CGGTGTAGAGATGTCCCTG
59
CGAGAAGCAAGTGTACGAC
59
AAAGTCAATCTTGACCACGTC
59
TACGTAGACTCGGAGGGAC
60
GGTTGACCAGGTCGATCTC
60
CGAGAAGCAAGTGTACGAC
59
AAAGTCAATCTTGACCACGTC
59
CGAGAAGCAAGTGTACGAC
58
AAAGTCAATCTTGACCACGTC
58
CGAGAAGCAAGTGTACGAC
59
AAAGTCAATCTTGACCACGTC
59
CGAGAAGCAAGTGTACGAC
59
AAAGTCAATCTTGACCACGTC
59
CAGGGAAACCTCCTCACAG
60
CGGTGTAGAGATGTCCCTC
59
CGAGAAGCAAGTGTACGAC
59
AAAGTCAATCTTGACCACGTC
59
GAGGGCAACATCTACAAGC
59
CAAAGTCAATCTTGACCACGT
59

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）
GATA6
CAV1
Repression
21514437
PPARG
CAV1
Unknown
17764562
SP1
CAV1
Unknown
10684646
SREBF1
CAV1
Repression
19808659
TFDP1
CAV1
Unknown
10684646
TP53
CAV1
Activation
10684646

基因本体信息

CAV1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

CAV1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000139
C9JKI3 (UniProtKB)
IEA
GO:0005901
C9JKI3 (UniProtKB)
IEA
GO:0016021
C9JKI3 (UniProtKB)
IEA
GO:0070836
C9JKI3 (UniProtKB)
IEA
GO:0000139
E9PCT5 (UniProtKB)
IEA
GO:0005901
E9PCT5 (UniProtKB)
IEA
GO:0016021
E9PCT5 (UniProtKB)
IEA
GO:0070836
E9PCT5 (UniProtKB)
IEA
GO:0000122
Q03135 (UniProtKB)
ISS
GO:0000139
Q03135 (UniProtKB)
IDA
GO:0000139
Q03135 (UniProtKB)
TAS
GO:0000165
Q03135 (UniProtKB)
IEA
GO:0000188
Q03135 (UniProtKB)
ISS
GO:0001179
Q03135 (UniProtKB)
IEA
GO:0001525
Q03135 (UniProtKB)
IEA
GO:0001570
Q03135 (UniProtKB)
ISS
GO:0001666
Q03135 (UniProtKB)
ISS
GO:0001937
Q03135 (UniProtKB)
ISS
GO:0001938
Q03135 (UniProtKB)
IEA
GO:0001960
Q03135 (UniProtKB)
IEA
GO:0002080
Q03135 (UniProtKB)
IEA
GO:0002931
Q03135 (UniProtKB)
IEA
GO:0003057
Q03135 (UniProtKB)
IEA
GO:0005102
Q03135 (UniProtKB)
IPI
GO:0005113
Q03135 (UniProtKB)
NAS
GO:0005198
Q03135 (UniProtKB)
IDA
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005515
Q03135 (UniProtKB)
IPI
GO:0005622
Q03135 (UniProtKB)
IDA
GO:0005739
Q03135 (UniProtKB)
IEA
GO:0005768
Q03135 (UniProtKB)
IDA
GO:0005778
Q03135 (UniProtKB)
IEA
GO:0005783
Q03135 (UniProtKB)
IDA
GO:0005789
Q03135 (UniProtKB)
TAS
GO:0005811
Q03135 (UniProtKB)
TAS
GO:0005811
Q03135 (UniProtKB)
TAS
GO:0005829
Q03135 (UniProtKB)
IEA
GO:0005886
Q03135 (UniProtKB)
IDA
GO:0005886
Q03135 (UniProtKB)
IDA
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005886
Q03135 (UniProtKB)
TAS
GO:0005887
Q03135 (UniProtKB)
IEA
GO:0005901
Q03135 (UniProtKB)
IDA
GO:0005901
Q03135 (UniProtKB)
NAS
GO:0005901
Q03135 (UniProtKB)
NAS
GO:0005901
Q03135 (UniProtKB)
IDA
GO:0005901
Q03135 (UniProtKB)
IDA
GO:0005901
Q03135 (UniProtKB)
IDA
GO:0005901
Q03135 (UniProtKB)
IDA
GO:0005901
Q03135 (UniProtKB)
IDA
GO:0005925
Q03135 (UniProtKB)
IDA
GO:0005929
Q03135 (UniProtKB)
IEA
GO:0005938
Q03135 (UniProtKB)
IEA
GO:0006641
Q03135 (UniProtKB)
ISS
GO:0006816
Q03135 (UniProtKB)
ISS
GO:0006874
Q03135 (UniProtKB)
ISS
GO:0006940
Q03135 (UniProtKB)
ISS
GO:0007519
Q03135 (UniProtKB)
ISS
GO:0007584
Q03135 (UniProtKB)
IEA
GO:0007595
Q03135 (UniProtKB)
IEA
GO:0008104
Q03135 (UniProtKB)
ISS
GO:0009267
Q03135 (UniProtKB)
IEP
GO:0009617
Q03135 (UniProtKB)
IDA
GO:0009925
Q03135 (UniProtKB)
IEA
GO:0009986
Q03135 (UniProtKB)
IEA
GO:0010332
Q03135 (UniProtKB)
IEA
GO:0010524
Q03135 (UniProtKB)
ISS
GO:0010608
Q03135 (UniProtKB)
IEA
GO:0010628
Q03135 (UniProtKB)
IEA
GO:0010656
Q03135 (UniProtKB)
IEA
GO:0010952
Q03135 (UniProtKB)
IEA
GO:0015485
Q03135 (UniProtKB)
TAS
GO:0016020
Q03135 (UniProtKB)
IDA
GO:0016050
Q03135 (UniProtKB)
ISS
GO:0016323
Q03135 (UniProtKB)
IDA
GO:0016324
Q03135 (UniProtKB)
IDA
GO:0016504
Q03135 (UniProtKB)
ISS
GO:0019065
Q03135 (UniProtKB)
IGI
GO:0019217
Q03135 (UniProtKB)
ISS
GO:0019899
Q03135 (UniProtKB)
IPI
GO:0019901
Q03135 (UniProtKB)
IPI
GO:0019905
Q03135 (UniProtKB)
IEA
GO:0019915
Q03135 (UniProtKB)
ISS
GO:0030193
Q03135 (UniProtKB)
IMP
GO:0030301
Q03135 (UniProtKB)
TAS
GO:0030512
Q03135 (UniProtKB)
IDA
GO:0030514
Q03135 (UniProtKB)
IDA
GO:0030666
Q03135 (UniProtKB)
TAS
GO:0030674
Q03135 (UniProtKB)
IEA
GO:0030857
Q03135 (UniProtKB)
ISS
GO:0030879
Q03135 (UniProtKB)
ISS
GO:0031100
Q03135 (UniProtKB)
IEA
GO:0031116
Q03135 (UniProtKB)
IEA
GO:0031295
Q03135 (UniProtKB)
IDA
GO:0031397
Q03135 (UniProtKB)
IMP
GO:0031398
Q03135 (UniProtKB)
IMP
GO:0031410
Q03135 (UniProtKB)
IDA
GO:0031410
Q03135 (UniProtKB)
IDA
GO:0031623
Q03135 (UniProtKB)
IDA
GO:0031901
Q03135 (UniProtKB)
TAS
GO:0032091
Q03135 (UniProtKB)
IDA
GO:0032092
Q03135 (UniProtKB)
IMP
GO:0032507
Q03135 (UniProtKB)
ISS
GO:0032570
Q03135 (UniProtKB)
IDA
GO:0032947
Q03135 (UniProtKB)
TAS
GO:0033137
Q03135 (UniProtKB)
IDA
GO:0033138
Q03135 (UniProtKB)
IDA
GO:0033344
Q03135 (UniProtKB)
IEA
GO:0033484
Q03135 (UniProtKB)
ISS
GO:0034141
Q03135 (UniProtKB)
IMP
GO:0042060
Q03135 (UniProtKB)
IEA
GO:0042310
Q03135 (UniProtKB)
IEA
GO:0042493
Q03135 (UniProtKB)
IEA
GO:0042524
Q03135 (UniProtKB)
IEA
GO:0042632
Q03135 (UniProtKB)
ISS
GO:0042632
Q03135 (UniProtKB)
TAS
GO:0042802
Q03135 (UniProtKB)
IPI
GO:0043085
Q03135 (UniProtKB)
ISS
GO:0043234
Q03135 (UniProtKB)
IDA
GO:0043409
Q03135 (UniProtKB)
ISS
GO:0043627
Q03135 (UniProtKB)
IDA
GO:0044325
Q03135 (UniProtKB)
IPI
GO:0044860
Q03135 (UniProtKB)
ISS
GO:0045019
Q03135 (UniProtKB)
ISS
GO:0045121
Q03135 (UniProtKB)
IDA
GO:0045121
Q03135 (UniProtKB)
IDA
GO:0045121
Q03135 (UniProtKB)
IDA
GO:0045121
Q03135 (UniProtKB)
IDA
GO:0045121
Q03135 (UniProtKB)
IDA
GO:0045121
Q03135 (UniProtKB)
IDA
GO:0045121
Q03135 (UniProtKB)
IDA
GO:0045665
Q03135 (UniProtKB)
IEA
GO:0045807
Q03135 (UniProtKB)
IEA
GO:0045907
Q03135 (UniProtKB)
ISS
GO:0046426
Q03135 (UniProtKB)
ISS
GO:0046785
Q03135 (UniProtKB)
IEA
GO:0046982
Q03135 (UniProtKB)
IEA
GO:0048365
Q03135 (UniProtKB)
IPI
GO:0048471
Q03135 (UniProtKB)
ISS
GO:0048471
Q03135 (UniProtKB)
IDA
GO:0048550
Q03135 (UniProtKB)
IMP
GO:0048662
Q03135 (UniProtKB)
IEA
GO:0050900
Q03135 (UniProtKB)
TAS
GO:0050998
Q03135 (UniProtKB)
IPI
GO:0050999
Q03135 (UniProtKB)
TAS
GO:0050999
Q03135 (UniProtKB)
TAS
GO:0051001
Q03135 (UniProtKB)
IEA
GO:0051117
Q03135 (UniProtKB)
IPI
GO:0051260
Q03135 (UniProtKB)
ISS
GO:0051384
Q03135 (UniProtKB)
IEA
GO:0051480
Q03135 (UniProtKB)
IDA
GO:0051592
Q03135 (UniProtKB)
ISS
GO:0051899
Q03135 (UniProtKB)
ISS
GO:0052547
Q03135 (UniProtKB)
ISS
GO:0055074
Q03135 (UniProtKB)
ISS
GO:0060056
Q03135 (UniProtKB)
ISS
GO:0060355
Q03135 (UniProtKB)
IMP
GO:0060546
Q03135 (UniProtKB)
IEA
GO:0061099
Q03135 (UniProtKB)
IMP
GO:0070320
Q03135 (UniProtKB)
IDA
GO:0070373
Q03135 (UniProtKB)
IEA
GO:0070836
Q03135 (UniProtKB)
ISS
GO:0070836
Q03135 (UniProtKB)
ISS
GO:0070836
Q03135 (UniProtKB)
IMP
GO:0070836
Q03135 (UniProtKB)
IGI
GO:0071260
Q03135 (UniProtKB)
IEA
GO:0071360
Q03135 (UniProtKB)
IMP
GO:0071375
Q03135 (UniProtKB)
ISS
GO:0071455
Q03135 (UniProtKB)
IMP
GO:0071560
Q03135 (UniProtKB)
IEA
GO:0072584
Q03135 (UniProtKB)
IDA
GO:0086091
Q03135 (UniProtKB)
ISS
GO:0086098
Q03135 (UniProtKB)
ISS
GO:0090090
Q03135 (UniProtKB)
ISS
GO:0090263
Q03135 (UniProtKB)
IMP
GO:0090398
Q03135 (UniProtKB)
IEA
GO:0097190
Q03135 (UniProtKB)
IMP
GO:0097371
Q03135 (UniProtKB)
IEA
GO:0098903
Q03135 (UniProtKB)
IMP
GO:0098909
Q03135 (UniProtKB)
IC
GO:0098911
Q03135 (UniProtKB)
ISS
GO:1900027
Q03135 (UniProtKB)
IDA
GO:1900085
Q03135 (UniProtKB)
IMP
GO:1901380
Q03135 (UniProtKB)
IMP
GO:1901844
Q03135 (UniProtKB)
ISS
GO:1901979
Q03135 (UniProtKB)
IMP
GO:1903071
Q03135 (UniProtKB)
IC
GO:1903361
Q03135 (UniProtKB)
ISS
GO:1903598
Q03135 (UniProtKB)
ISS
GO:1904886
Q03135 (UniProtKB)
TAS
GO:2000286
Q03135 (UniProtKB)
IMP
GO:2000535
Q03135 (UniProtKB)
IDA
GO:2000811
Q03135 (UniProtKB)
IMP
GO:2001238
Q03135 (UniProtKB)
IMP
GO:2001244
Q03135 (UniProtKB)
IMP
GO:2001258
Q03135 (UniProtKB)
IEA
GO:0005925
Q03135 (UniProtKB)
IDA
GO:0034098
Q03135 (UniProtKB)
IPI

基因相关microRNA

基因相关microRNA

可能调控 CAV1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
Lipodystrophy, Congenital Generalized, Type 3 0.24 0 3 CLINVAR_CTD_human
Atrial Fibrillation 0.24 2 1 CTD_human_GWASCAT
Hypertensive disease 0.200542884 4 0 BeFree_CTD_human_RGD
Cardiomegaly 0.2 1 0 CTD_human_RGD
Diabetes Mellitus, Experimental 0.2 2 0 CTD_human_RGD
Mammary Neoplasms 0.151510628 20 0 BeFree_CTD_human_GAD_LHGDN
Neoplasm Metastasis 0.144188121 61 0 BeFree_CTD_human_LHGDN
Prostatic Neoplasms 0.140156219 11 0 BeFree_CTD_human_LHGDN
Glaucoma, Open-Angle 0.122367032 1 0 CTD_human_GAD
Electrocardiogram: P-R interval 0.122367032 3 2 GAD_GWASCAT

基因相关服务

基因相关服务

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