RACGAP1 (Rac GTPase activating protein 1)

基因基本信息

基因基本信息

symbol:
RACGAP1
locus group:
protein-coding gene
location:
12q13.12
gene_family:
alias symbol:
MgcRacGAP|CYK4
alias name:
None
entrez id:
29127
ensembl gene id:
ENSG00000161800
ucsc gene id:
uc001rvu.3
refseq accession:
NM_013277
hgnc_id:
HGNC:9804
approved reserved:
1999-09-09

基因染色体位置

基因染色体位置

12q13.12
基因染色体位置图

基因简述

基因简述

RACGAP1（Rac GTPase-activating protein 1）是一种参与细胞分裂和细胞迁移调控的关键基因，属于Rho GTPase激活蛋白（GAP）家族。该基因编码的蛋白质通过调控Rac和Cdc42等小GTP酶的活性，影响细胞骨架重组、细胞极性和胞质分裂等过程。RACGAP1在胞质分裂中发挥核心作用，它与MKLP1（有丝分裂驱动蛋白样蛋白1）形成中央纺锤体复合物，促进收缩环的形成和完成细胞分裂。若RACGAP1发生突变，可能导致胞质分裂失败，引发多核细胞形成或染色体不稳定，进而与癌症发生相关。研究表明，RACGAP1在多种肿瘤（如乳腺癌、肝癌和肺癌）中过表达，其高表达可能促进肿瘤细胞增殖、侵袭和转移，并与不良预后相关。相反，降低RACGAP1表达会抑制肿瘤生长并诱导细胞凋亡。此外，RACGAP1还参与免疫调节和神经发育等过程。该基因属于RhoGAP家族，该家族成员均含有保守的GAP结构域，能够负调控Rho家族GTP酶的活性，从而影响细胞形态、运动和信号转导。RACGAP1的异常表达可能通过影响细胞周期和迁移相关通路（如PI3K/AKT和MAPK）干扰正常生理功能。因此，RACGAP1不仅是细胞分裂的重要调控因子，也是潜在的癌症治疗靶点。

The protein encoded by this gene belongs to the GTPase-activating protein (GAP) family. GAPs bind activated forms of Rho GTPases and stimulate GTP hydrolysis. Through this catalytic function, GAPs negatively regulate Rho-mediated signals. This protein plays a regulatory role in initiation of cytokinesis, controlling cell growth and differentiation of hematopoietic cells, regulating spermatogenesis, and in neuronal proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

由该基因编码的蛋白质属于GTP酶激活蛋白（GAP）的家族。 GAP的绑定激活的Rho GTP酶的形式，刺激GTP水解。通过这种催化功能，GAP的负调控的Rho介导的信号。这种蛋白在胞质分裂开始调节作用，控制造血细胞的细胞生长和分化，调节精子发生，并在神经元增殖。另外剪接转录变体也发现了这种基因。 [由RefSeq的，2011年9月提供]

OMIM数据库中对RACGAP1基因的介绍     Wikipedia数据库中对RACGAP1基因的介绍

基因序列

基因序列

RACGAP1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

RACGAP1基因的碱基突变：           仅显示部分snp
rs8987       rs15192       rs296737       rs296738       rs378943       rs415523       rs445250       rs598144       rs602772       rs611042       rs611434       rs614410       rs615382       rs623878       rs629754       rs629874       rs630107      

基因表达

基因表达

RACGAP1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
GACTGTTCCCAATGATGGC
59
GTTCCAAGGTTGTAAAGTACCTG
60
AAGGAAATGAAGTCCGAACG
59
GCTTAGTTGAATGCTGCCA
59
ATGCACGTAATCAGGTGGA
59
CTGAATCTGTCGTTCCAGC
59
ATGTGCGGAATCTGTTTGAG
59
AAGAAGAGTCCCAATCGGA
58
ACAGGTACTTTACAACCTTGG
58
GGATTCAGGTTTAATAACCGTC
57
TCAACCCAAGGTGGTTGAG
60
CAATGTTCTCTTGCTCCACC
59
GAATCACTGGATTGGGACTC
58
AACTGTCGGCTAGTAGAGC
59
AACCATTGATGAATCTGGTTCC
59
CAAAGAAGAGTCCCAATCCAG
59
TGACTGTTCCCAATGATGG
57
TCCAAGGTTGTAAAGTACCTG
58
ATGTGCGGAATCTGTTTGAG
59
AGAAGAGTCCCAATCGGAC
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）
CUX1
RACGAP1
Unknown
21886810
E2F1
RACGAP1
Unknown
21886810

基因本体信息

RACGAP1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

RACGAP1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005654
F8VRD2 (UniProtKB)
IDA
GO:0005654
F8VS54 (UniProtKB)
IDA
GO:0005654
F8VUW9 (UniProtKB)
IDA
GO:0005654
F8VV39 (UniProtKB)
IDA
GO:0005654
F8VV47 (UniProtKB)
IDA
GO:0005654
F8VVE5 (UniProtKB)
IDA
GO:0005654
F8VWX0 (UniProtKB)
IDA
GO:0005654
F8VWY4 (UniProtKB)
IDA
GO:0007165
F8VZ41 (UniProtKB)
IEA
GO:0005654
F8VZ66 (UniProtKB)
IDA
GO:0005654
F8W0L1 (UniProtKB)
IDA
GO:0005654
F8W1E5 (UniProtKB)
IDA
GO:0007165
H0YIK5 (UniProtKB)
IEA
GO:0000281
Q9H0H5 (UniProtKB)
IDA
GO:0000281
Q9H0H5 (UniProtKB)
IMP
GO:0000281
Q9H0H5 (UniProtKB)
IDA
GO:0000281
Q9H0H5 (UniProtKB)
IMP
GO:0000915
Q9H0H5 (UniProtKB)
IMP
GO:0001669
Q9H0H5 (UniProtKB)
IEA
GO:0005096
Q9H0H5 (UniProtKB)
IDA
GO:0005096
Q9H0H5 (UniProtKB)
IMP
GO:0005096
Q9H0H5 (UniProtKB)
TAS
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005515
Q9H0H5 (UniProtKB)
IPI
GO:0005547
Q9H0H5 (UniProtKB)
IDA
GO:0005634
Q9H0H5 (UniProtKB)
IDA
GO:0005634
Q9H0H5 (UniProtKB)
IDA
GO:0005634
Q9H0H5 (UniProtKB)
IDA
GO:0005634
Q9H0H5 (UniProtKB)
IDA
GO:0005654
Q9H0H5 (UniProtKB)
IDA
GO:0005737
Q9H0H5 (UniProtKB)
IBA
GO:0005829
Q9H0H5 (UniProtKB)
TAS
GO:0005829
Q9H0H5 (UniProtKB)
TAS
GO:0005829
Q9H0H5 (UniProtKB)
TAS
GO:0005829
Q9H0H5 (UniProtKB)
TAS
GO:0005829
Q9H0H5 (UniProtKB)
TAS
GO:0005829
Q9H0H5 (UniProtKB)
TAS
GO:0005829
Q9H0H5 (UniProtKB)
TAS
GO:0005874
Q9H0H5 (UniProtKB)
IEA
GO:0006890
Q9H0H5 (UniProtKB)
TAS
GO:0007018
Q9H0H5 (UniProtKB)
TAS
GO:0007283
Q9H0H5 (UniProtKB)
IEP
GO:0007405
Q9H0H5 (UniProtKB)
ISS
GO:0008017
Q9H0H5 (UniProtKB)
IDA
GO:0008272
Q9H0H5 (UniProtKB)
IDA
GO:0009790
Q9H0H5 (UniProtKB)
ISS
GO:0019886
Q9H0H5 (UniProtKB)
TAS
GO:0019901
Q9H0H5 (UniProtKB)
IPI
GO:0030496
Q9H0H5 (UniProtKB)
IDA
GO:0030496
Q9H0H5 (UniProtKB)
IDA
GO:0030496
Q9H0H5 (UniProtKB)
IDA
GO:0031234
Q9H0H5 (UniProtKB)
IDA
GO:0032154
Q9H0H5 (UniProtKB)
IDA
GO:0032467
Q9H0H5 (UniProtKB)
IMP
GO:0032467
Q9H0H5 (UniProtKB)
IMP
GO:0032467
Q9H0H5 (UniProtKB)
IDA
GO:0035556
Q9H0H5 (UniProtKB)
IEA
GO:0043014
Q9H0H5 (UniProtKB)
IDA
GO:0043015
Q9H0H5 (UniProtKB)
IDA
GO:0043547
Q9H0H5 (UniProtKB)
IEA
GO:0046872
Q9H0H5 (UniProtKB)
IEA
GO:0048487
Q9H0H5 (UniProtKB)
IDA
GO:0051056
Q9H0H5 (UniProtKB)
TAS
GO:0051233
Q9H0H5 (UniProtKB)
IDA
GO:0051256
Q9H0H5 (UniProtKB)
IDA
GO:0051988
Q9H0H5 (UniProtKB)
IMP
GO:0070062
Q9H0H5 (UniProtKB)
IDA
GO:0072686
Q9H0H5 (UniProtKB)
IMP
GO:0072686
Q9H0H5 (UniProtKB)
IDA
GO:0097149
Q9H0H5 (UniProtKB)
IDA
GO:0097149
Q9H0H5 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 RACGAP1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
IGA Glomerulonephritis 0.12 1 0 CTD_human
Polycystic Ovary Syndrome 0.12 1 0 CTD_human
Mammary Neoplasms 0.002995792 2 0 BeFree_LHGDN
Neurofibromatosis 1 0.002171535 8 0 BeFree
Liver carcinoma 0.001085767 4 0 BeFree
Neoplasm Metastasis 0.001085767 4 0 BeFree
Tumor Progression 0.001085767 4 0 BeFree
Carcinogenesis 0.000814326 3 0 BeFree
Mental Retardation 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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