NPM1 (nucleophosmin 1)

基因基本信息

基因基本信息

symbol:
NPM1
locus group:
protein-coding gene
location:
5q35.1
gene_family:
alias symbol:
B23|NPM
alias name:
nucleolar phosphoprotein B23|numat…
entrez id:
4869
ensembl gene id:
ENSG00000181163
ucsc gene id:
uc032vtc.2
refseq accession:
NM_002520
hgnc_id:
HGNC:7910
approved reserved:
1993-08-24

基因染色体位置

基因染色体位置

5q35.1
基因染色体位置图

基因简述

基因简述

NPM1（核磷蛋白1）是一种多功能核蛋白，属于核磷蛋白基因家族，该家族成员通常参与核糖体生物合成、RNA加工、染色质重塑和细胞周期调控等过程。NPM1在细胞核中高度表达，尤其在核仁中富集，其主要功能包括参与核糖体组装、维持基因组稳定性、调控中心体复制以及参与p53肿瘤抑制蛋白的稳定性调控。NPM1还能通过其分子伴侣活性协助蛋白质的正确折叠和转运。NPM1基因突变，尤其是外显子12的框移突变，会导致其C端核定位信号丢失，使蛋白异常定位于细胞质，这种突变在急性髓系白血病（AML）中较为常见，约占AML病例的30%，并与疾病的发生和发展密切相关。NPM1突变会导致其正常功能丧失，干扰p53通路，促进细胞增殖和抑制凋亡，从而促进白血病发生。NPM1过表达常见于多种实体瘤，如乳腺癌、前列腺癌和胶质瘤等，其过表达可促进肿瘤细胞增殖、侵袭和转移，部分机制是通过激活AKT和ERK信号通路。相反，NPM1表达降低会导致核仁应激、细胞周期阻滞和凋亡增加，影响胚胎发育和造血功能。NPM1还与病毒感染有关，例如它可与HIV-1病毒蛋白相互作用，影响病毒复制。此外，NPM1在DNA损伤修复中发挥作用，其缺失会增加细胞对DNA损伤剂的敏感性。NPM1基因家族成员通常含有保守的酸性区域和寡聚化结构域，参与核酸代谢和应激反应。由于NPM1在癌症中的重要作用，它已成为潜在的诊断标志物和治疗靶点，针对NPM1突变或过表达的治疗策略正在研究中。

This gene encodes a phosphoprotein which moves between the nucleus and the cytoplasm. The gene product is thought to be involved in several processes including regulation of the ARF/p53 pathway. A number of genes are fusion partners have been characterized, in particular the anaplastic lymphoma kinase gene on chromosome 2. Mutations in this gene are associated with acute myeloid leukemia. More than a dozen pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]

此基因编码的核和细胞质之间移动的磷蛋白。该基因产物被认为是参与几个过程，包括ARF / p53途径的调节。一些基因是融合配偶已经表征，特别是染色体上的间变性淋巴瘤激酶基因2.在该基因的突变与急性骨髓性白血病有关。该基因的十几假已经确定。选择性剪接结果在多个抄本变形。[由RefSeq的，2009年11月提供]

OMIM数据库中对NPM1基因的介绍     Wikipedia数据库中对NPM1基因的介绍

基因序列

基因序列

NPM1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

NPM1基因的碱基突变：           仅显示部分snp
rs2071276       rs7704680       rs10069429       rs11134695       rs11448454       rs11551523       rs11551547       rs11551555       rs11551571       rs28411383       rs28411384       rs28411385       rs73325498       rs74550585       rs74826981       rs75584427       rs75828148      

基因表达

基因表达

NPM1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
GCCAGTGAAGAAATCTATACGAG
59
GATCTTGGTGTTGATGATGGT
58
CTTTAAGAACGGTCAGTTTAGG
57
CTGCCTTCGTAATTCATTGC
58
CCAGTTATCTTTAAGAACGGTCAG
60
AACAATGTGCAACTCATCCT
58
GCCAGTGAAGAAATCTATACGAG
59
GATCTTGGTGTTGATGATGGT
58
TGAATTACGAAGGCAGTCCA
60
GAAACCGTTGGCTGTACAG
59
GGTTCTCTTCCCAAAGTGG
58
TTGAATAGCCTCTTGGTCAG
57
CTTTAAGAACGGTCAGTTTAGG
57
CTGCCTTCGTAATTCATTGC
58
GCCAGTGAAGAAATCTATACGAG
59
GATCTTGGTGTTGATGATGGT
58
AAATAACACCACCAGTGGTC
58
TCCTCCACAGCTACTAAGTG
59
ATGGACATGGACATGAGCC
60
GCCTTTAGTTCACAACCGA
58

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）
NPM1
ATF5
Repression
22528486
NPM1
BRD4
Unknown
24220271
NPM1
CCND1
Unknown
18625744
NPM1
CDKN1A
Activation
19221506
NPM1
DNMT1
Unknown
19887607
NPM1
ELF4
Unknown
23393136
NPM1
MDM2
Repression
23393136
NPM1
PTPN6
Activation
16825495
NPM1
RPL3
Unknown
21705779
NPM1
TAF1A
Activation
17069796

基因本体信息

NPM1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

NPM1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003713
P06748 (UniProtKB)
IDA
GO:0003723
P06748 (UniProtKB)
IDA
GO:0004860
P06748 (UniProtKB)
IDA
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005515
P06748 (UniProtKB)
IPI
GO:0005634
P06748 (UniProtKB)
ISS
GO:0005634
P06748 (UniProtKB)
IDA
GO:0005634
P06748 (UniProtKB)
IDA
GO:0005634
P06748 (UniProtKB)
IDA
GO:0005634
P06748 (UniProtKB)
IDA
GO:0005654
P06748 (UniProtKB)
IDA
GO:0005654
P06748 (UniProtKB)
TAS
GO:0005654
P06748 (UniProtKB)
TAS
GO:0005654
P06748 (UniProtKB)
TAS
GO:0005654
P06748 (UniProtKB)
TAS
GO:0005654
P06748 (UniProtKB)
TAS
GO:0005730
P06748 (UniProtKB)
IDA
GO:0005730
P06748 (UniProtKB)
IDA
GO:0005730
P06748 (UniProtKB)
IDA
GO:0005730
P06748 (UniProtKB)
IDA
GO:0005730
P06748 (UniProtKB)
IDA
GO:0005730
P06748 (UniProtKB)
IDA
GO:0005730
P06748 (UniProtKB)
IDA
GO:0005730
P06748 (UniProtKB)
IDA
GO:0005737
P06748 (UniProtKB)
ISS
GO:0005737
P06748 (UniProtKB)
IDA
GO:0005813
P06748 (UniProtKB)
ISS
GO:0005813
P06748 (UniProtKB)
IDA
GO:0005829
P06748 (UniProtKB)
TAS
GO:0005829
P06748 (UniProtKB)
TAS
GO:0005925
P06748 (UniProtKB)
IDA
GO:0006281
P06748 (UniProtKB)
IDA
GO:0006334
P06748 (UniProtKB)
IDA
GO:0006886
P06748 (UniProtKB)
TAS
GO:0006913
P06748 (UniProtKB)
TAS
GO:0006913
P06748 (UniProtKB)
IDA
GO:0006950
P06748 (UniProtKB)
IMP
GO:0006977
P06748 (UniProtKB)
TAS
GO:0007098
P06748 (UniProtKB)
ISS
GO:0007098
P06748 (UniProtKB)
IMP
GO:0007165
P06748 (UniProtKB)
NAS
GO:0007569
P06748 (UniProtKB)
ISS
GO:0007569
P06748 (UniProtKB)
IMP
GO:0008104
P06748 (UniProtKB)
IDA
GO:0008284
P06748 (UniProtKB)
IDA
GO:0008285
P06748 (UniProtKB)
ISS
GO:0008285
P06748 (UniProtKB)
IMP
GO:0010826
P06748 (UniProtKB)
IMP
GO:0016020
P06748 (UniProtKB)
IDA
GO:0016032
P06748 (UniProtKB)
IEA
GO:0019901
P06748 (UniProtKB)
IPI
GO:0030529
P06748 (UniProtKB)
IDA
GO:0030957
P06748 (UniProtKB)
IDA
GO:0031616
P06748 (UniProtKB)
IDA
GO:0032071
P06748 (UniProtKB)
IDA
GO:0034080
P06748 (UniProtKB)
TAS
GO:0042255
P06748 (UniProtKB)
TAS
GO:0042393
P06748 (UniProtKB)
IDA
GO:0042803
P06748 (UniProtKB)
IDA
GO:0043023
P06748 (UniProtKB)
IDA
GO:0043024
P06748 (UniProtKB)
IDA
GO:0043066
P06748 (UniProtKB)
IDA
GO:0043066
P06748 (UniProtKB)
NAS
GO:0044387
P06748 (UniProtKB)
IDA
GO:0044822
P06748 (UniProtKB)
IDA
GO:0044822
P06748 (UniProtKB)
IDA
GO:0045727
P06748 (UniProtKB)
IDA
GO:0045893
P06748 (UniProtKB)
IDA
GO:0046599
P06748 (UniProtKB)
IMP
GO:0046982
P06748 (UniProtKB)
IMP
GO:0051059
P06748 (UniProtKB)
ISS
GO:0051059
P06748 (UniProtKB)
IDA
GO:0051082
P06748 (UniProtKB)
ISS
GO:0051082
P06748 (UniProtKB)
IDA
GO:0051092
P06748 (UniProtKB)
IMP
GO:0051259
P06748 (UniProtKB)
IDA
GO:0060699
P06748 (UniProtKB)
IDA
GO:0060735
P06748 (UniProtKB)
IDA
GO:1902751
P06748 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 NPM1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
Leukemia, Myelocytic, Acute 0.446321629 298 2 BeFree_CLINVAR_CTD_human_GAD_LHGDN
Acute Promyelocytic Leukemia 0.245700279 22 0 BeFree_CTD_human_ORPHANET
Lymphomatoid Papulosis 0.120542884 2 0 BeFree_ORPHANET
Stomach Neoplasms 0.120271442 2 0 BeFree_CTD_human
Lymphoma, Primary Cutaneous Anaplastic Large Cell 0.120271442 1 0 BeFree_ORPHANET
Ki-1+ Anaplastic Large Cell Lymphoma 0.042103285 128 0 BeFree_LHGDN
Myeloid Leukemia 0.036048363 17 0 BeFree_GAD
MYELODYSPLASTIC SYNDROME 0.022451187 16 0 BeFree_GAD_LHGDN
Lymphoma 0.016316307 32 0 BeFree_LHGDN
leukemia 0.016220499 41 0 BeFree_GAD_LHGDN

基因相关服务

基因相关服务

联系方式

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