MYO5A (myosin VA)

基因基本信息

基因基本信息

symbol:
MYO5A
locus group:
protein-coding gene
location:
15q21.2
gene_family:
Myosins
alias symbol:
MYO5|GS1|MYR12
alias name:
myosin, heavy polypeptide kinase|m…
entrez id:
4644
ensembl gene id:
ENSG00000197535
ucsc gene id:
uc002aby.4
refseq accession:
NM_000259
hgnc_id:
HGNC:7602
approved reserved:
1993-09-23

基因染色体位置

基因染色体位置

15q21.2
基因染色体位置图

基因简述

基因简述

MYO5A基因编码肌球蛋白VA（Myosin VA），属于肌球蛋白家族中的V类肌球蛋白（Myosin V family）。肌球蛋白家族是一类依赖ATP的马达蛋白，参与细胞内物质运输、细胞骨架重组和细胞运动等过程。肌球蛋白V类成员通常具有长颈区，能形成二聚体，负责沿肌动蛋白丝运输货物。MYO5A主要在神经元、黑色素细胞和内分泌细胞中表达，其功能是运输细胞器（如黑色素小体和突触小泡）到特定位置。MYO5A突变会导致Griscelli综合征1型（GS1），表现为部分白化病和神经系统异常，如癫痫和发育迟缓，这是因为黑色素小体和突触囊泡运输受阻。此外，MYO5A还与Charcot-Marie-Tooth病2型（CMT2）相关，影响周围神经功能。MYO5A过表达可能导致细胞运输系统紊乱，影响突触传递和黑色素分布，而表达降低则会导致运输效率下降，引发类似GS1的症状。MYO5A与RAB27A和MLPH等蛋白相互作用，共同调控黑色素小体的运输。该基因家族（肌球蛋白V类）的共性包括：具有马达结构域（头部）、颈区（含IQ模体）和尾部（负责货物结合），依赖钙调蛋白调节活性，并参与细胞极化运输。研究MYO5A有助于理解神经退行性疾病和色素沉着障碍的机制。

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]

该基因是三个肌球蛋白V重链的基因之一，属于肌球蛋白基因超家族。肌球蛋白V是一个类参与胞质囊泡运输和锚地，主轴极对准和mRNA易位基于肌动蛋白马达蛋白。由该基因编码的蛋白质是在黑素细胞和神经细胞丰富。在这个基因的突变引起综合征Griscelli 1型（GS1），Griscelli综合征3型（GS3）和神经外胚层melanolysosomal疾病或Elejalde疾病。编码不同同种型的多个可变剪接转录物变体已有报道，但一些变体的全长性质尚未确定。 [由RefSeq的，2008年12月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

MYO5A基因的碱基突变：           仅显示部分snp
rs722436       rs744501       rs752864       rs752865       rs752866       rs871488       rs876548       rs876549       rs935891       rs935892       rs940966       rs940967       rs940968       rs940969       rs940970       rs940971       rs940972      

基因表达

基因表达

MYO5A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
AGAAACAAATAGGCTCCTGGA
59
CTTCAGGCTCTGGATCTCC
59
CTACCGTGTCCTCATGGAG
59
TTGTATTCTGAGAGGGCTTGG
60
AATGCAAGATGCCTAAAGGC
59
AGCTTTGTTTGATAGACGAGG
59
TGATTCTGGGCAACAAACC
59
GTAGTCAGCATGTCGAACAC
59
AAGAAACAAATAGGCTCCTGGA
60
CTTCAGGCTCTGGATCTCC
59
GAACATGGGTGATATGGATCC
58
TGATTTCGTTCATCTCTGGC
58
TTTGAAACCGTCTCCTTCTG
58
CATAAAGCCCTCTTCTCCAC
58
TGATTCTGGGCAACAAACC
59
GTAGTCAGCATGTCGAACAC
59
CATCCAACCCAAGGATGAC
58
GTATGCTTGTGCTATTTCACC
57
GAACATGGGTGATATGGATCC
58
TGATTTCGTTCATCTCTGGC
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

MYO5A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

MYO5A基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003774
A0A087WY00 (UniProtKB)
IEA
GO:0003779
A0A087WY00 (UniProtKB)
IEA
GO:0005524
A0A087WY00 (UniProtKB)
IEA
GO:0016459
A0A087WY00 (UniProtKB)
IEA
GO:0003774
F8W6H6 (UniProtKB)
IEA
GO:0003779
F8W6H6 (UniProtKB)
IEA
GO:0005524
F8W6H6 (UniProtKB)
IEA
GO:0016459
F8W6H6 (UniProtKB)
IEA
GO:0003774
F8WE88 (UniProtKB)
IEA
GO:0003779
F8WE88 (UniProtKB)
IEA
GO:0005524
F8WE88 (UniProtKB)
IEA
GO:0016459
F8WE88 (UniProtKB)
IEA
GO:0003774
G3V394 (UniProtKB)
IEA
GO:0003779
G3V394 (UniProtKB)
IEA
GO:0005524
G3V394 (UniProtKB)
IEA
GO:0016459
G3V394 (UniProtKB)
IEA
GO:0003774
G3V3C9 (UniProtKB)
IEA
GO:0005524
G3V3C9 (UniProtKB)
IEA
GO:0051015
G3V3C9 (UniProtKB)
IEA
GO:0000146
Q9Y4I1 (UniProtKB)
NAS
GO:0001726
Q9Y4I1 (UniProtKB)
IDA
GO:0001750
Q9Y4I1 (UniProtKB)
IEA
GO:0003779
Q9Y4I1 (UniProtKB)
IEA
GO:0005509
Q9Y4I1 (UniProtKB)
IEA
GO:0005516
Q9Y4I1 (UniProtKB)
IEA
GO:0005524
Q9Y4I1 (UniProtKB)
IEA
GO:0005737
Q9Y4I1 (UniProtKB)
IDA
GO:0005794
Q9Y4I1 (UniProtKB)
IEA
GO:0005829
Q9Y4I1 (UniProtKB)
IDA
GO:0005882
Q9Y4I1 (UniProtKB)
IEA
GO:0006810
Q9Y4I1 (UniProtKB)
NAS
GO:0006887
Q9Y4I1 (UniProtKB)
IEA
GO:0006892
Q9Y4I1 (UniProtKB)
IMP
GO:0007268
Q9Y4I1 (UniProtKB)
IEA
GO:0007601
Q9Y4I1 (UniProtKB)
IEA
GO:0016020
Q9Y4I1 (UniProtKB)
IDA
GO:0016020
Q9Y4I1 (UniProtKB)
IDA
GO:0016192
Q9Y4I1 (UniProtKB)
ISS
GO:0016459
Q9Y4I1 (UniProtKB)
IEA
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0017137
Q9Y4I1 (UniProtKB)
IPI
GO:0030048
Q9Y4I1 (UniProtKB)
NAS
GO:0030050
Q9Y4I1 (UniProtKB)
IMP
GO:0030073
Q9Y4I1 (UniProtKB)
IEA
GO:0030318
Q9Y4I1 (UniProtKB)
IEA
GO:0030426
Q9Y4I1 (UniProtKB)
NAS
GO:0031585
Q9Y4I1 (UniProtKB)
IEA
GO:0031987
Q9Y4I1 (UniProtKB)
IEA
GO:0032252
Q9Y4I1 (UniProtKB)
IEA
GO:0032402
Q9Y4I1 (UniProtKB)
IEA
GO:0032433
Q9Y4I1 (UniProtKB)
IDA
GO:0032593
Q9Y4I1 (UniProtKB)
ISS
GO:0032869
Q9Y4I1 (UniProtKB)
ISS
GO:0035371
Q9Y4I1 (UniProtKB)
IEA
GO:0042438
Q9Y4I1 (UniProtKB)
IEA
GO:0042470
Q9Y4I1 (UniProtKB)
IEA
GO:0042476
Q9Y4I1 (UniProtKB)
IEA
GO:0042552
Q9Y4I1 (UniProtKB)
IEA
GO:0042641
Q9Y4I1 (UniProtKB)
IEA
GO:0042759
Q9Y4I1 (UniProtKB)
IEA
GO:0043005
Q9Y4I1 (UniProtKB)
NAS
GO:0043025
Q9Y4I1 (UniProtKB)
IEA
GO:0044822
Q9Y4I1 (UniProtKB)
IDA
GO:0050808
Q9Y4I1 (UniProtKB)
IEA
GO:0051643
Q9Y4I1 (UniProtKB)
IEA
GO:0070062
Q9Y4I1 (UniProtKB)
IDA
GO:0072659
Q9Y4I1 (UniProtKB)
ISS
GO:1903358
Q9Y4I1 (UniProtKB)
IMP
GO:0005764
Q9Y4I1 (UniProtKB)
IDA
GO:0005769
Q9Y4I1 (UniProtKB)
IDA
GO:0005770
Q9Y4I1 (UniProtKB)
IDA
GO:0005777
Q9Y4I1 (UniProtKB)
IDA
GO:0005783
Q9Y4I1 (UniProtKB)
IDA
GO:0005884
Q9Y4I1 (UniProtKB)
IDA
GO:0031982
Q9Y4I1 (UniProtKB)
IDA
GO:0055037
Q9Y4I1 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 MYO5A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
GRISCELLI SYNDROME, TYPE 1 0.44 0 0 CLINVAR_CTD_human_MGD_ORPHANET
GRISCELLI SYNDROME, TYPE 3 0.24 0 0 CLINVAR_ORPHANET
Elejalde Disease 0.2 0 0 MGD_ORPHANET
Peripheral Neuropathy 0.120271442 1 0 BeFree_CTD_human
IGA Glomerulonephritis 0.12 1 0 CTD_human
melanoma 0.003452799 5 0 BeFree_GAD
Hypopigmentation disorder 0.002995792 1 0 BeFree_LHGDN
Hyperpigmentation 0.00272435 1 0 LHGDN
Malignant neoplasm of urinary bladder 0.002367032 1 0 GAD
Skin Neoplasms 0.002367032 1 0 GAD

基因相关服务

基因相关服务

联系方式

山东省济南市 高新区 崇华路359号 三庆世纪财富中心C1115室

电话： 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。

版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2