MEN1 (menin 1)

基因基本信息

基因基本信息

symbol:
MEN1
locus group:
protein-coding gene
location:
11q13
gene_family:
alias symbol:
None
alias name:
menin
entrez id:
4221
ensembl gene id:
ENSG00000133895
ucsc gene id:
uc001obq.4
refseq accession:
NM_000244
hgnc_id:
HGNC:7010
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

11q13
基因染色体位置图

基因简述

基因简述

MEN1基因（多发性内分泌腺瘤1型基因）位于人类染色体11q13上，编码一种名为menin的核蛋白。Menin在多种细胞过程中发挥关键作用，包括调控基因转录、细胞增殖、基因组稳定性和表观遗传修饰。它通过与多种蛋白质相互作用（如组蛋白甲基转移酶MLL复合物）来影响染色质结构和基因表达。MEN1基因突变会导致多发性内分泌腺瘤1型（MEN1综合征），这是一种常染色体显性遗传病，表现为甲状旁腺、胰腺和垂体等内分泌器官的肿瘤。突变通常导致menin功能丧失，破坏其抑癌作用，进而促进肿瘤发生。MEN1基因属于MEN1基因家族，该家族成员在调控细胞周期和肿瘤抑制方面具有共性。如果MEN1过表达，可能增强其抑癌功能，但具体机制尚不完全清楚；而降低表达或功能缺失则会导致细胞增殖失控和肿瘤形成。此外，MEN1还与其他疾病如散发性内分泌肿瘤、白血病和乳腺癌等有关。研究MEN1基因有助于理解肿瘤发生的分子机制，并为相关疾病的诊断和治疗提供靶点。

This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]

这个基因编码MENIN，与被称为多发性内分泌肿瘤类型1.在体外研究显示MENIN被定位于细胞核一个综合征相关的假定的肿瘤抑制，具有两个官能核定位信号，并抑制由JUND转录激活然而，该蛋白质的功能是未知的。已经检测到上northern印迹两个消息但较大的消息尚未表征。选择性剪接结果在多个抄本变形。 [由RefSeq的，2008年10月提供]

OMIM数据库中对MEN1基因的介绍     Wikipedia数据库中对MEN1基因的介绍

基因序列

基因序列

MEN1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

MEN1基因的碱基突变：           仅显示部分snp
rs540012       rs654440       rs1804848       rs1804849       rs1804850       rs2071313       rs2856744       rs2959656       rs2959657       rs111895237       rs117705251       rs138595686       rs138770431       rs140924477       rs141679530       rs143341556       rs143423552      

基因表达

基因表达

MEN1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
TTGCACTACAACTACTGCC
57
TGGCTACTTCAAAGAACTCCT
59
CGATGTCATATGGAACAGCC
59
GTCCAATTTGGTGCCTGTG
60
CGATGTCATATGGAACAGCC
59
GTCCAATTTGGTGCCTGTG
60
CGATGTCATATGGAACAGCC
59
GTCCAATTTGGTGCCTGTG
60
TCCTCATAACTTGCCGACC
60
AACGTTGGTAGGGATGACG
60
ATATGGAACAGCCTCAGCC
60
CAATTTGGTGCCTACTGGG
59
ATATGGAACAGCCTCAGCC
60
CAATTTGGTGCCTACTGGG
59
GAAGTAGCCAATGATGTCATCC
59
AGATGCCGTCGTAGAATCG
60
TCCTCATAACTTGCCGACC
60
AACGTTGGTAGGGATGACG
60
ATATGGAACAGCCTCAGCC
60
CAATTTGGTGCCTACTGGG
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）
MEN1
BRCA1
Unknown
23648481
MEN1
CASP8
Activation
17766243
MEN1
CDKN1B
Activation
10523037
MEN1
CDKN2C
Repression
10523037
MEN1
GAST
Repression
21852362
MEN1
GATA3
Unknown
20484083
MEN1
JUND
Repression
22327296
MEN1
PRL
Unknown
17024155
MEN1
RAD51
Unknown
23648481
MEN1
RAD51AP1
Unknown
23648481

基因本体信息

MEN1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

MEN1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005654
E7EN32 (UniProtKB)
IDA
GO:0005737
E7EN32 (UniProtKB)
IDA
GO:0005634
E7ENS2 (UniProtKB)
IEA
GO:0005634
E7EPR4 (UniProtKB)
IEA
GO:0005634
E7ET29 (UniProtKB)
IEA
GO:0000122
O00255 (UniProtKB)
IDA
GO:0000122
O00255 (UniProtKB)
IDA
GO:0000165
O00255 (UniProtKB)
IDA
GO:0000278
O00255 (UniProtKB)
IEA
GO:0000400
O00255 (UniProtKB)
IDA
GO:0000403
O00255 (UniProtKB)
IDA
GO:0000784
O00255 (UniProtKB)
ISS
GO:0000785
O00255 (UniProtKB)
IDA
GO:0000790
O00255 (UniProtKB)
IDA
GO:0001933
O00255 (UniProtKB)
IDA
GO:0002076
O00255 (UniProtKB)
IGI
GO:0003309
O00255 (UniProtKB)
IEA
GO:0003682
O00255 (UniProtKB)
IBA
GO:0003690
O00255 (UniProtKB)
IDA
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005515
O00255 (UniProtKB)
IPI
GO:0005634
O00255 (UniProtKB)
IDA
GO:0005634
O00255 (UniProtKB)
IDA
GO:0005634
O00255 (UniProtKB)
IDA
GO:0005634
O00255 (UniProtKB)
IDA
GO:0005634
O00255 (UniProtKB)
IDA
GO:0005654
O00255 (UniProtKB)
IDA
GO:0005654
O00255 (UniProtKB)
TAS
GO:0005654
O00255 (UniProtKB)
TAS
GO:0005654
O00255 (UniProtKB)
TAS
GO:0005654
O00255 (UniProtKB)
TAS
GO:0005737
O00255 (UniProtKB)
IDA
GO:0005737
O00255 (UniProtKB)
IDA
GO:0005829
O00255 (UniProtKB)
IDA
GO:0005829
O00255 (UniProtKB)
TAS
GO:0006281
O00255 (UniProtKB)
NAS
GO:0006351
O00255 (UniProtKB)
IEA
GO:0006974
O00255 (UniProtKB)
IDA
GO:0007420
O00255 (UniProtKB)
IEA
GO:0008285
O00255 (UniProtKB)
IDA
GO:0009411
O00255 (UniProtKB)
IDA
GO:0010332
O00255 (UniProtKB)
IDA
GO:0010812
O00255 (UniProtKB)
IEA
GO:0016363
O00255 (UniProtKB)
IDA
GO:0030511
O00255 (UniProtKB)
IMP
GO:0030674
O00255 (UniProtKB)
IDA
GO:0032092
O00255 (UniProtKB)
IDA
GO:0032154
O00255 (UniProtKB)
IDA
GO:0032925
O00255 (UniProtKB)
IEA
GO:0034968
O00255 (UniProtKB)
IEA
GO:0035097
O00255 (UniProtKB)
IPI
GO:0035097
O00255 (UniProtKB)
IPI
GO:0035097
O00255 (UniProtKB)
IPI
GO:0035097
O00255 (UniProtKB)
IDA
GO:0043234
O00255 (UniProtKB)
IDA
GO:0043433
O00255 (UniProtKB)
IDA
GO:0043433
O00255 (UniProtKB)
IDA
GO:0044212
O00255 (UniProtKB)
IDA
GO:0045668
O00255 (UniProtKB)
IGI
GO:0045736
O00255 (UniProtKB)
IMP
GO:0045786
O00255 (UniProtKB)
IDA
GO:0045892
O00255 (UniProtKB)
IDA
GO:0045944
O00255 (UniProtKB)
TAS
GO:0046329
O00255 (UniProtKB)
IDA
GO:0046697
O00255 (UniProtKB)
IEA
GO:0047485
O00255 (UniProtKB)
IPI
GO:0047485
O00255 (UniProtKB)
IPI
GO:0047485
O00255 (UniProtKB)
IPI
GO:0050680
O00255 (UniProtKB)
IEA
GO:0051974
O00255 (UniProtKB)
IMP
GO:0061469
O00255 (UniProtKB)
IEA
GO:0070412
O00255 (UniProtKB)
IPI
GO:0071333
O00255 (UniProtKB)
IEA
GO:0071375
O00255 (UniProtKB)
IEA
GO:0071559
O00255 (UniProtKB)
IEA
GO:1902807
O00255 (UniProtKB)
IEA
GO:1904837
O00255 (UniProtKB)
TAS
GO:0018024
O00255 (UniProtKB)
IDA
GO:0005634
Q9GZQ5 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 MEN1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
Multiple Endocrine Neoplasia Type 1 0.687063012 252 31 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
HYPERPARATHYROIDISM 1 0.443800186 19 2 BeFree_CLINVAR_CTD_human_MGD_UNIPROT
Neuroendocrine Tumors 0.13758764 38 0 BeFree_CTD_human_GAD_LHGDN
Pancreatic Neoplasm 0.136992555 24 1 BeFree_CTD_human_GAD
Gastrinoma 0.134416214 26 0 BeFree_CTD_human_LHGDN
insulinoma 0.132148871 27 0 BeFree_CTD_human_GAD_LHGDN
Adrenocortical carcinoma 0.121357209 5 0 BeFree_CTD_human
Neoplastic Syndromes, Hereditary 0.121085767 4 1 BeFree_CLINVAR
Glucagonoma 0.121085767 5 0 BeFree_CTD_human
Carcinoid tumor of lung 0.120542884 2 0 BeFree_CLINVAR

基因相关服务

基因相关服务

联系方式

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