RAB3A (RAB3A, member RAS oncogene family)

基因基本信息

基因基本信息

symbol:
RAB3A
locus group:
protein-coding gene
location:
19p13.11
gene_family:
RAB, member RAS oncogene GTPases
alias symbol:
None
alias name:
RAS-associated protein RAB3A
entrez id:
5864
ensembl gene id:
ENSG00000105649
ucsc gene id:
uc002nie.3
refseq accession:
NM_002866
hgnc_id:
HGNC:9777
approved reserved:
1989-06-30

基因染色体位置

基因染色体位置

19p13.11

基因简述

基因简述

RAB3A属于RAB基因家族，这是一个小GTP酶家族，主要参与调控细胞内囊泡运输和膜融合过程。RAB家族成员通常通过GTP/GDP循环切换活性状态，控制囊泡的靶向、拴系和释放。RAB3A主要在神经元和内分泌细胞中表达，其核心功能是调节突触小泡的胞吐作用，影响神经递质释放效率。它通过与效应蛋白如RIM和Munc13相互作用，帮助突触小泡锚定在活性区附近。RAB3A突变可能导致其GTP酶活性异常，影响囊泡释放动力学，与某些神经系统疾病相关。例如，RAB3A功能异常与癫痫、智力障碍和自闭症谱系障碍有关联。过表达RAB3A会抑制突触小泡释放，导致神经递质释放减少，可能引起突触传递功能障碍；而表达降低则可能导致囊泡过度释放，破坏神经信号平衡。RAB3A还参与调节胰岛素分泌，其表达异常可能影响血糖调控。在阿尔茨海默病中观察到RAB3A表达变化，暗示其可能参与神经退行性过程。RAB3A与其他RAB家族成员（如RAB3B/C/D）具有相似的结构域和GTP结合特性，但组织分布和精确功能存在差异。这个基因家族共同参与细胞内膜运输的不同环节，维持细胞内物质运输的时空精确性。研究RAB3A有助于理解突触可塑性机制和神经系统疾病的病理基础。

中文English

无

OMIM数据库中对RAB3A基因的介绍     Wikipedia数据库中对RAB3A基因的介绍

基因序列

基因序列

RAB3A基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MASATDSRYG QKESSDQNFD YMFKILIIGN SSVGKTSFLF
41RYADDSFTPA FVSTVGIDFK VKTIYRNDKR IKLQIWDTAG
81 QERYRTITT AYYRGAMGFI LMYDITNEES FNAVQDWSTQ
121IKTYSWDNAQ VLLVGNKCDM EDERVVSSER GRQLADHLGF
161E FFEASAKD NINVKQTFER LVDVICEKMS ESLDTADPAV
201TGAKQGPQLS DQQVPPHQDC AC
结构预测来自 AlphaFold DB（UniProt: P20336），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

RAB3A基因的碱基突变：           仅显示部分snp
rs2049050       rs2049051       rs2271883       rs2280343       rs2280344       rs4808119       rs11881978       rs55678304       rs61631351       rs62120386       rs73001430       rs74180872       rs74180873       rs75751658       rs112706661       rs114746638       rs114940989      

基因表达

基因表达

RAB3A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
AAGTGTGACATGGAGGATGAG
60
CAAAGAACTCGAACCCAAGG
59
GTTCAAGATTCTCATCATCGGC
60
ATAGCGGAAGAGGAAGGAC
59
AAGTGTGACATGGAGGATGAG
60
CAAAGAACTCGAACCCAAGG
59
ATCAAGCTGCAGATCTGGG
60
ATGAGGATGAAGCCCATAGC
60
CAAGAGGATCAAGCTGCAG
59
TAGTATGCGGTGGTGATGG
59
ATCAAGCTGCAGATCTGGG
60
TGAGGATGAAGCCCATAGC
59
GGATCAAGCTGCAGATCTG
58
TAGTATGCGGTGGTGATGG
59
CATTTATCAGTAAGGTGCCCA
58
TATGGGAGAACACAGGTGC
59
AAGTGTGACATGGAGGATGAG
60
AAAGAACTCGAACCCAAGGT
60
AAGTGTGACATGGAGGATGAG
60
AAAGAACTCGAACCCAAGGT
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）
NR1I2
RAB3A
Activation
21072196

基因本体信息

RAB3A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

RAB3A基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005525
M0R257 (UniProtKB)
IEA
GO:0005622
M0R257 (UniProtKB)
IEA
GO:0007264
M0R257 (UniProtKB)
IEA
GO:0001669
P20336 (UniProtKB)
IEA
GO:0001671
P20336 (UniProtKB)
IEA
GO:0003016
P20336 (UniProtKB)
IEA
GO:0003924
P20336 (UniProtKB)
IMP
GO:0003924
P20336 (UniProtKB)
IDA
GO:0005515
P20336 (UniProtKB)
IPI
GO:0005515
P20336 (UniProtKB)
IPI
GO:0005515
P20336 (UniProtKB)
IPI
GO:0005515
P20336 (UniProtKB)
IPI
GO:0005525
P20336 (UniProtKB)
IEA
GO:0005768
P20336 (UniProtKB)
IEA
GO:0005829
P20336 (UniProtKB)
IEA
GO:0005886
P20336 (UniProtKB)
TAS
GO:0005886
P20336 (UniProtKB)
TAS
GO:0005886
P20336 (UniProtKB)
TAS
GO:0005886
P20336 (UniProtKB)
TAS
GO:0005886
P20336 (UniProtKB)
TAS
GO:0005886
P20336 (UniProtKB)
TAS
GO:0007005
P20336 (UniProtKB)
IEA
GO:0007264
P20336 (UniProtKB)
IEA
GO:0007269
P20336 (UniProtKB)
TAS
GO:0007274
P20336 (UniProtKB)
IEA
GO:0007409
P20336 (UniProtKB)
IEA
GO:0008021
P20336 (UniProtKB)
ISS
GO:0008021
P20336 (UniProtKB)
ISS
GO:0008022
P20336 (UniProtKB)
IEA
GO:0009791
P20336 (UniProtKB)
IEA
GO:0014047
P20336 (UniProtKB)
TAS
GO:0015031
P20336 (UniProtKB)
IEA
GO:0016079
P20336 (UniProtKB)
ISS
GO:0016188
P20336 (UniProtKB)
IEA
GO:0030324
P20336 (UniProtKB)
IEA
GO:0030424
P20336 (UniProtKB)
ISS
GO:0031489
P20336 (UniProtKB)
IPI
GO:0031630
P20336 (UniProtKB)
ISS
GO:0032781
P20336 (UniProtKB)
IEA
GO:0036465
P20336 (UniProtKB)
ISS
GO:0043195
P20336 (UniProtKB)
ISS
GO:0043195
P20336 (UniProtKB)
ISS
GO:0043234
P20336 (UniProtKB)
IEA
GO:0045054
P20336 (UniProtKB)
TAS
GO:0045921
P20336 (UniProtKB)
TAS
GO:0048172
P20336 (UniProtKB)
ISS
GO:0048790
P20336 (UniProtKB)
IEA
GO:0050975
P20336 (UniProtKB)
IEA
GO:0051020
P20336 (UniProtKB)
IEA
GO:0051117
P20336 (UniProtKB)
IEA
GO:0051602
P20336 (UniProtKB)
IEA
GO:0060201
P20336 (UniProtKB)
TAS
GO:0060201
P20336 (UniProtKB)
TAS
GO:0060201
P20336 (UniProtKB)
TAS
GO:0060203
P20336 (UniProtKB)
TAS
GO:0060203
P20336 (UniProtKB)
TAS
GO:0060203
P20336 (UniProtKB)
TAS
GO:0061202
P20336 (UniProtKB)
TAS
GO:0061202
P20336 (UniProtKB)
TAS
GO:0061670
P20336 (UniProtKB)
IEA
GO:0070083
P20336 (UniProtKB)
TAS
GO:0070083
P20336 (UniProtKB)
TAS
GO:0070083
P20336 (UniProtKB)
TAS
GO:0070083
P20336 (UniProtKB)
TAS
GO:0070083
P20336 (UniProtKB)
TAS
GO:0070083
P20336 (UniProtKB)
TAS
GO:1903307
P20336 (UniProtKB)
IMP
GO:1903561
P20336 (UniProtKB)
IDA
GO:0005525
S4R3Q3 (UniProtKB)
IEA
GO:0005622
S4R3Q3 (UniProtKB)
IEA
GO:0007264
S4R3Q3 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 RAB3A基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
Reactome
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关联基因 作用方式 资源库来源/分值

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
Ependymoma 0.12 1 0 CTD_human
Autistic Disorder 0.00272435 1 0 LHGDN
Breast Carcinoma 0.000542884 2 0 BeFree
Malignant neoplasm of breast 0.000542884 2 0 BeFree
Dementia 0.000542884 2 0 BeFree
Retinitis Pigmentosa 0.000542884 2 0 BeFree
Presenile dementia 0.000542884 2 0 BeFree
Nervous System Neoplasms 0.000271442 1 0 BeFree
Glioma 0.000271442 1 0 BeFree
Attention deficit hyperactivity disorder 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

LncSMIM14 Hijacks Rab3a-Mediated Endocytosis to Promote Bovine Viral Diarrhea Virus Replication.
Shao Z, Ma S, Gao F, Lou Y, Liu X, Yang L, Mai Z, Wang L, Haiyilati A, Shi H, Fu Q Int J Mol Sci IF: 3.226 2026-02-27
Altered synaptic and astrocytic proteins in Lewy body disorders associated with GBA mutations.
Eid TM, Lashley T, Warner TT, Khan A, Jantrachotechatchawan C, Francis PT, Hardy J, Bandopadhyay R Brain Commun None
An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.
Miyamoto R, Sakane A, Morino H, Kume K, Matsubara T, Fukumoto T, Osaki Y, Oki R, Hanada K, Tachibana K, Nakataki M, Nishida Y, Takahashi Y, Mizuguchi K, Murayama S, Saito Y, Kawakami H, Takai Y, Sasaki T, Izumi Y Hum Mol Genet IF: 3.1 2026-02-10
Targeting hypoxic exosomal IGFBP2 overcomes CD47-mediated immune evasion in glioblastoma.
Qi Y, Zhao R, Zhang X, Xia H, Zhang P, Wang Q, Zhao S, Wang S, Zhao H, Guo X, Qiu W, Li B, Pan Z, Qiu J, Gao Z, Wang C, Lu H, Li G, Xue H Cell Death Dis IF: 12.2 2026-01-31
Ethylene oxide impairs sperm motility through dysregulation of Rab proteins.
Jo JH, Claudine U, Jang SI, Jung EJ, Lee WJ, Bae JW, Kim D, Moon J, Nam SW, Chung EJ, Yi J, Kwon WS Reprod Toxicol IF: 3.4 2026-03-00
A Meta-analysis to Identify Common Key Genes Across Ageing, Alzheimer's and Parkinson's Diseases.
Chaurasiya M, Cholleti SN, Prasad G, Vindal V Ann Neurosci IF: 3.1 2026-03-06
IG20/MADD gene functional isoform KIAA0358 can promote insulin secretion in glucose and repaglinide-induced pancreatic β-cells.
Sui Y, Weng ZL, Qian LX, Hong WJ, Prabhakar BS, Li LC Acta Pharmacol Sin IF: 10.4 2026-07-00
An Insulin-Exosome-TNFAIP8 Axis Drives Stromal Fibrosis and Therapeutic Resistance in Pancreatic Cancer.
Li Z, Chen L, Wang T, Jiang H, Wang H, Li M, Xie G, Xi C, Yan H, Lu C, Li C, Zhu H, Sun F, Yin L, Yu J, Miao Y Adv Sci (Weinh) IF: 9.034 2026-04-00

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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