PINK1 (PTEN induced kinase 1)

基因基本信息

基因基本信息

symbol:
PINK1
locus group:
protein-coding gene
location:
1p36.12
gene_family:
Parkinson disease associated genes
alias symbol:
BRPK
alias name:
None
entrez id:
65018
ensembl gene id:
ENSG00000158828
ucsc gene id:
uc001bdm.3
refseq accession:
NM_032409
hgnc_id:
HGNC:14581
approved reserved:
2001-02-08

基因染色体位置

基因染色体位置

1p36.12
基因染色体位置图

基因简述

基因简述

PINK1（PTEN诱导激酶1）是一种由PINK1基因编码的线粒体丝氨酸/苏氨酸蛋白激酶，在维持线粒体功能中起核心作用。该基因属于PINK1/Parkin通路，这个家族通过泛素-蛋白酶体系统调控线粒体自噬（mitophagy，即受损线粒体的选择性清除）。PINK1的主要作用位点是线粒体外膜，当线粒体受损导致膜电位下降时，PINK1会在线粒体表面积累并激活Parkin蛋白，进而标记受损线粒体进行降解。PINK1的生物学功能包括监测线粒体健康状态、调节能量代谢、清除功能异常的线粒体以及抑制活性氧（ROS，一种对细胞有害的氧化物质）的产生。PINK1基因突变会导致其激酶活性丧失，最常见的是与早发性帕金森病（一种神经退行性疾病）相关的常染色体隐性突变，这些突变会损害线粒体自噬过程，导致异常线粒体和毒性蛋白的积累，最终引发多巴胺能神经元（负责运动协调的神经细胞）死亡。PINK1过表达可增强线粒体自噬并保护神经元，但过度激活可能导致线粒体过度清除而影响细胞能量供应；而PINK1表达降低会削弱线粒体质量控制，加速神经退行性变。除帕金森病外，PINK1功能异常还与阿尔茨海默病、糖尿病和癌症等疾病相关。PINK1/Parkin基因家族的共性是通过泛素化（给蛋白质添加泛素标记的过程）机制调控线粒体动态平衡，成员间存在功能互补，如Parkin依赖PINK1激活才能发挥作用。目前"PINK1"的中文译名"PTEN诱导激酶1"能准确反映其特性，但部分文献也简称为" Pink1激酶"。

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]

该基因编码定位于线粒体丝氨酸/苏氨酸蛋白激酶。它被认为是保护从应力诱发的线粒体功能障碍的细胞。突变该基因原因一常染色体隐性遗传早发性帕金森病的形式。 [由RefSeq的，2008年7月提供]

OMIM数据库中对PINK1基因的介绍     Wikipedia数据库中对PINK1基因的介绍

基因序列

基因序列

PINK1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

PINK1基因的碱基突变：           仅显示部分snp
rs559542       rs639455       rs650616       rs1131982       rs1131984       rs1573132       rs2078073       rs3077908       rs3077910       rs10641565       rs10641566       rs10916843       rs17406145       rs33999970       rs34361349       rs71010590       rs78349864      

基因表达

基因表达

PINK1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
ATGAAGAACTATCCCTGTACCC
59
GTTGAACCAGATGGTCCAC
59
ACGTGAGACAGTTGGTGAG
60
TTAGATGAAGCACATTTGCGG
60
ATGAAGAACTATCCCTGTACCC
59
GTTGAACCAGATGGTCCAC
59
GGTCGACTACCCTGATGTG
60
GTACAGGGATAGTTCTTCATAACG
59
GGTCGACTACCCTGATGTG
60
GTACAGGGATAGTTCTTCATAACG
59
ACGTGAGACAGTTGGTGAG
60
TAGATGAAGCACATTTGCGG
59
GGTCGACTACCCTGATGTG
60
TACAGGGATAGTTCTTCATAACGAG
60
GGTCGACTACCCTGATGTG
60
TACAGGGATAGTTCTTCATAACGAG
60
ACGTGAGACAGTTGGTGAG
60
AGATGAAGCACATTTGCGG
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

PINK1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

PINK1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000287
Q9BXM7 (UniProtKB)
IDA
GO:0000422
Q9BXM7 (UniProtKB)
IMP
GO:0000422
Q9BXM7 (UniProtKB)
IMP
GO:0000422
Q9BXM7 (UniProtKB)
IMP
GO:0000785
Q9BXM7 (UniProtKB)
IDA
GO:0001934
Q9BXM7 (UniProtKB)
IDA
GO:0002020
Q9BXM7 (UniProtKB)
IPI
GO:0002020
Q9BXM7 (UniProtKB)
TAS
GO:0002082
Q9BXM7 (UniProtKB)
IDA
GO:0004672
Q9BXM7 (UniProtKB)
IMP
GO:0004674
Q9BXM7 (UniProtKB)
ISS
GO:0004674
Q9BXM7 (UniProtKB)
IDA
GO:0004674
Q9BXM7 (UniProtKB)
IDA
GO:0004674
Q9BXM7 (UniProtKB)
IDA
GO:0004674
Q9BXM7 (UniProtKB)
TAS
GO:0004674
Q9BXM7 (UniProtKB)
IDA
GO:0004674
Q9BXM7 (UniProtKB)
IDA
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005515
Q9BXM7 (UniProtKB)
IPI
GO:0005524
Q9BXM7 (UniProtKB)
IDA
GO:0005634
Q9BXM7 (UniProtKB)
IDA
GO:0005737
Q9BXM7 (UniProtKB)
IDA
GO:0005739
Q9BXM7 (UniProtKB)
IDA
GO:0005739
Q9BXM7 (UniProtKB)
IDA
GO:0005739
Q9BXM7 (UniProtKB)
IDA
GO:0005739
Q9BXM7 (UniProtKB)
IDA
GO:0005739
Q9BXM7 (UniProtKB)
IDA
GO:0005739
Q9BXM7 (UniProtKB)
IDA
GO:0005739
Q9BXM7 (UniProtKB)
IDA
GO:0005741
Q9BXM7 (UniProtKB)
IDA
GO:0005741
Q9BXM7 (UniProtKB)
TAS
GO:0005741
Q9BXM7 (UniProtKB)
TAS
GO:0005741
Q9BXM7 (UniProtKB)
TAS
GO:0005743
Q9BXM7 (UniProtKB)
IDA
GO:0005743
Q9BXM7 (UniProtKB)
IDA
GO:0005758
Q9BXM7 (UniProtKB)
IDA
GO:0005758
Q9BXM7 (UniProtKB)
IDA
GO:0005758
Q9BXM7 (UniProtKB)
TAS
GO:0005758
Q9BXM7 (UniProtKB)
TAS
GO:0005758
Q9BXM7 (UniProtKB)
TAS
GO:0005829
Q9BXM7 (UniProtKB)
IDA
GO:0005829
Q9BXM7 (UniProtKB)
IDA
GO:0005829
Q9BXM7 (UniProtKB)
IDA
GO:0005829
Q9BXM7 (UniProtKB)
IDA
GO:0005829
Q9BXM7 (UniProtKB)
IDA
GO:0005829
Q9BXM7 (UniProtKB)
IDA
GO:0005829
Q9BXM7 (UniProtKB)
TAS
GO:0005856
Q9BXM7 (UniProtKB)
IDA
GO:0006468
Q9BXM7 (UniProtKB)
IDA
GO:0006468
Q9BXM7 (UniProtKB)
IDA
GO:0006468
Q9BXM7 (UniProtKB)
TAS
GO:0006468
Q9BXM7 (UniProtKB)
IDA
GO:0006468
Q9BXM7 (UniProtKB)
IMP
GO:0006511
Q9BXM7 (UniProtKB)
TAS
GO:0006950
Q9BXM7 (UniProtKB)
IDA
GO:0006979
Q9BXM7 (UniProtKB)
IGI
GO:0007005
Q9BXM7 (UniProtKB)
IMP
GO:0010310
Q9BXM7 (UniProtKB)
IEA
GO:0010629
Q9BXM7 (UniProtKB)
ISS
GO:0010821
Q9BXM7 (UniProtKB)
IMP
GO:0010857
Q9BXM7 (UniProtKB)
IDA
GO:0010952
Q9BXM7 (UniProtKB)
TAS
GO:0016020
Q9BXM7 (UniProtKB)
IDA
GO:0016236
Q9BXM7 (UniProtKB)
TAS
GO:0016239
Q9BXM7 (UniProtKB)
IMP
GO:0016242
Q9BXM7 (UniProtKB)
IMP
GO:0016301
Q9BXM7 (UniProtKB)
IDA
GO:0016301
Q9BXM7 (UniProtKB)
NAS
GO:0016310
Q9BXM7 (UniProtKB)
NAS
GO:0016504
Q9BXM7 (UniProtKB)
TAS
GO:0016567
Q9BXM7 (UniProtKB)
IMP
GO:0018105
Q9BXM7 (UniProtKB)
ISS
GO:0018105
Q9BXM7 (UniProtKB)
IDA
GO:0018105
Q9BXM7 (UniProtKB)
IDA
GO:0018105
Q9BXM7 (UniProtKB)
TAS
GO:0022904
Q9BXM7 (UniProtKB)
IEA
GO:0030424
Q9BXM7 (UniProtKB)
IDA
GO:0031307
Q9BXM7 (UniProtKB)
IDA
GO:0031396
Q9BXM7 (UniProtKB)
IDA
GO:0031396
Q9BXM7 (UniProtKB)
IMP
GO:0031396
Q9BXM7 (UniProtKB)
IMP
GO:0031398
Q9BXM7 (UniProtKB)
ISS
GO:0031625
Q9BXM7 (UniProtKB)
IPI
GO:0032148
Q9BXM7 (UniProtKB)
IC
GO:0032226
Q9BXM7 (UniProtKB)
IEA
GO:0033138
Q9BXM7 (UniProtKB)
TAS
GO:0033138
Q9BXM7 (UniProtKB)
IDA
GO:0033138
Q9BXM7 (UniProtKB)
IMP
GO:0033603
Q9BXM7 (UniProtKB)
IEA
GO:0034599
Q9BXM7 (UniProtKB)
IMP
GO:0035307
Q9BXM7 (UniProtKB)
IEA
GO:0035556
Q9BXM7 (UniProtKB)
IDA
GO:0036289
Q9BXM7 (UniProtKB)
TAS
GO:0036289
Q9BXM7 (UniProtKB)
IMP
GO:0038203
Q9BXM7 (UniProtKB)
IC
GO:0043123
Q9BXM7 (UniProtKB)
IDA
GO:0043254
Q9BXM7 (UniProtKB)
IDA
GO:0043422
Q9BXM7 (UniProtKB)
IDA
GO:0043524
Q9BXM7 (UniProtKB)
IMP
GO:0044297
Q9BXM7 (UniProtKB)
IDA
GO:0045727
Q9BXM7 (UniProtKB)
IEA
GO:0046329
Q9BXM7 (UniProtKB)
TAS
GO:0048471
Q9BXM7 (UniProtKB)
IDA
GO:0050821
Q9BXM7 (UniProtKB)
IMP
GO:0051091
Q9BXM7 (UniProtKB)
IEA
GO:0051443
Q9BXM7 (UniProtKB)
TAS
GO:0051881
Q9BXM7 (UniProtKB)
IMP
GO:0051881
Q9BXM7 (UniProtKB)
IMP
GO:0051881
Q9BXM7 (UniProtKB)
IGI
GO:0051897
Q9BXM7 (UniProtKB)
IC
GO:0055131
Q9BXM7 (UniProtKB)
IPI
GO:0061136
Q9BXM7 (UniProtKB)
NAS
GO:0071456
Q9BXM7 (UniProtKB)
IMP
GO:0072655
Q9BXM7 (UniProtKB)
IMP
GO:0072656
Q9BXM7 (UniProtKB)
IMP
GO:0090141
Q9BXM7 (UniProtKB)
IBA
GO:0090200
Q9BXM7 (UniProtKB)
IMP
GO:0090258
Q9BXM7 (UniProtKB)
IMP
GO:0097237
Q9BXM7 (UniProtKB)
TAS
GO:0097413
Q9BXM7 (UniProtKB)
TAS
GO:0097449
Q9BXM7 (UniProtKB)
IDA
GO:0098779
Q9BXM7 (UniProtKB)
IMP
GO:1902803
Q9BXM7 (UniProtKB)
TAS
GO:1902902
Q9BXM7 (UniProtKB)
IMP
GO:1902958
Q9BXM7 (UniProtKB)
TAS
GO:1903146
Q9BXM7 (UniProtKB)
TAS
GO:1903147
Q9BXM7 (UniProtKB)
IMP
GO:1903202
Q9BXM7 (UniProtKB)
IDA
GO:1903204
Q9BXM7 (UniProtKB)
TAS
GO:1903214
Q9BXM7 (UniProtKB)
IGI
GO:1903214
Q9BXM7 (UniProtKB)
IMP
GO:1903214
Q9BXM7 (UniProtKB)
IDA
GO:1903298
Q9BXM7 (UniProtKB)
IEA
GO:1903384
Q9BXM7 (UniProtKB)
IDA
GO:1903384
Q9BXM7 (UniProtKB)
IMP
GO:1903751
Q9BXM7 (UniProtKB)
IDA
GO:1903852
Q9BXM7 (UniProtKB)
IMP
GO:1903955
Q9BXM7 (UniProtKB)
IMP
GO:1904544
Q9BXM7 (UniProtKB)
ISS
GO:2000377
Q9BXM7 (UniProtKB)
IMP
GO:2000377
Q9BXM7 (UniProtKB)
IGI
GO:2000378
Q9BXM7 (UniProtKB)
IMP
GO:2001171
Q9BXM7 (UniProtKB)
TAS
GO:0000151
Q9BXM7 (UniProtKB)
ISS
GO:0005739
Q9BXM7 (UniProtKB)
IGI
GO:0005739
Q9BXM7 (UniProtKB)
IMP
GO:0005741
Q9BXM7 (UniProtKB)
IMP
GO:0005742
Q9BXM7 (UniProtKB)
IMP
GO:0031932
Q9BXM7 (UniProtKB)
IPI

基因相关microRNA

基因相关microRNA

可能调控 PINK1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
Parkinson Disease 6, Autosomal Recessive Early-Onset 0.44 17 3 CLINVAR_CTD_human_MGD_UNIPROT
Parkinson Disease 0.272130727 114 3 BeFree_CTD_human_GAD_LHGDN
Parkinsonian Disorders 0.177698531 81 2 BeFree_CTD_human_GAD_LHGDN
Neuroblastoma 0.120814326 4 0 BeFree_CTD_human
Peripheral Neuropathy 0.120271442 2 0 BeFree_CTD_human
Diabetes Mellitus, Non-Insulin-Dependent 0.005634266 2 0 BeFree_GAD_LHGDN
Neurodegenerative Disorders 0.00408156 5 0 BeFree_LHGDN
Schizophrenia 0.003810118 4 0 BeFree_LHGDN
Dementia 0.003267234 3 0 BeFree_LHGDN
Autosomal Recessive Parkinsonism 0.003257302 12 0 BeFree

基因相关服务

基因相关服务

联系方式

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