MLH1 (mutL homolog 1)

基因基本信息

基因基本信息

symbol:
MLH1
locus group:
protein-coding gene
location:
3p22.2
gene_family:
alias symbol:
HNPCC|FCC2|HNPCC2|MLH-1
alias name:
None
entrez id:
4292
ensembl gene id:
ENSG00000076242
ucsc gene id:
uc003cgl.4
refseq accession:
NM_000249
hgnc_id:
HGNC:7127
approved reserved:
1993-11-24

基因染色体位置

基因染色体位置

3p22.2
基因染色体位置图

基因简述

基因简述

MLH1（MutL homolog 1）是DNA错配修复（MMR）系统中的关键基因，属于MutL基因家族。该家族成员在DNA复制过程中负责识别和修复碱基错配，维持基因组稳定性。MLH1基因编码的蛋白质与其他MMR蛋白（如MSH2、MSH6）形成复合物，共同参与修复DNA复制错误。MLH1蛋白的主要作用位点是细胞核，通过与PMS2结合形成MutLα复合物，在修复过程中发挥核心作用。MLH1突变会导致错配修复功能缺陷，造成微卫星不稳定性（MSI），进而增加癌症风险，尤其是林奇综合征（遗传性非息肉病性结直肠癌，HNPCC）的主要致病基因之一。MLH1突变携带者患结直肠癌、子宫内膜癌、卵巢癌等恶性肿瘤的风险显著升高。MLH1表达降低或功能丧失会导致细胞无法有效修复DNA复制错误，积累突变并促进肿瘤发生。MLH1过表达的情况较少见，但可能通过过度修复干扰正常DNA代谢。MLH1的表观遗传沉默（如启动子甲基化）是散发性结直肠癌的常见机制。MLH1基因家族（MutL家族）还包括MLH3、PMS1和PMS2等成员，它们均参与DNA错配修复，但功能有所分化。该家族蛋白均含有保守的ATP酶结构域和蛋白质相互作用域，能够识别错配DNA并招募其他修复因子。MLH1功能异常不仅影响基因组稳定性，还可能改变细胞对化疗药物的敏感性，例如MLH1缺陷肿瘤可能对某些DNA损伤药物（如铂类）更敏感，但对5-氟尿嘧啶耐药。研究MLH1有助于理解癌症发生机制并指导个性化治疗策略。

This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]

该基??因被鉴定为在遗传性非息肉结肠直肠癌（HNPCC）频繁突变的轨迹。它是大肠杆菌DNA错配修复基因mutL的人类同源，与微卫星序列中发现HNPCC的特点改变（RER +表型）一致。在多个转录剪接变异体结果不同编码的亚型。额外转录变体进行了说明，但它们的全长性质尚未确定。[通过的RefSeq，2009年11月提供]

OMIM数据库中对MLH1基因的介绍     Wikipedia数据库中对MLH1基因的介绍

基因序列

基因序列

MLH1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

MLH1基因的碱基突变：           仅显示部分snp
rs1800734       rs2020872       rs3774343       rs3836491       rs4647200       rs4647201       rs4647202       rs4647203       rs4647204       rs4647205       rs13096329       rs34013758       rs34566456       rs35032294       rs41285097       rs41295280       rs56198082      

基因表达

基因表达

MLH1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
ATTGATGAGGAAGGGAACCTG
60
GAAGATAGGCAGTCCCTCC
59
TTCTCAGGTTATCGGAGCC
59
CATCTTCCTCTGTCCAGCC
60
ATTGATGAGGAAGGGAACCTG
60
GAAGATAGGCAGTCCCTCC
59
TGCATACAGAGCAAGTTACTC
58
ATGCCTGCATTGTGTACTG
58
CTGGTAGAATCAACTTCCTTGAG
59
GACTGATTTCTAAACTGAGGTACAG
59
GGGATCAGGAAAGAAGATCTG
58
ACTGGCTAAATCCTCAAAGG
57
TGAGAACTGAAAGAAGATCTGG
58
TACTGGCTAAATCCTCAAAGG
58
ATCCAATGCAAACTACTCAGTG
59
TAGCAAAGTGGTTGATGAAGAG
59
AATGACTGCAGCTTGTACC
58
GCACTTCACTCCTCATGTC
58
TGGTAGAATCAACTTCCTTGAG
58
GTAGCAAAGTCTGAGGTACAG
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）
BHLHE41
MLH1
Repression
24165159
BRIP1
MLH1
Unknown
24351291
CEBPZ
MLH1
Repression
11704838
MAFG
MLH1
Unknown
25219500

基因本体信息

MLH1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

MLH1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005524
E7EUC9 (UniProtKB)
IEA
GO:0006298
E7EUC9 (UniProtKB)
IEA
GO:0030983
E7EUC9 (UniProtKB)
IEA
GO:0005524
H0Y5L7 (UniProtKB)
IEA
GO:0006298
H0Y5L7 (UniProtKB)
IEA
GO:0030983
H0Y5L7 (UniProtKB)
IEA
GO:0005524
H0Y793 (UniProtKB)
IEA
GO:0006298
H0Y793 (UniProtKB)
IEA
GO:0030983
H0Y793 (UniProtKB)
IEA
GO:0005524
H0Y818 (UniProtKB)
IEA
GO:0006298
H0Y818 (UniProtKB)
IEA
GO:0030983
H0Y818 (UniProtKB)
IEA
GO:0000289
P40692 (UniProtKB)
IEA
GO:0000712
P40692 (UniProtKB)
IEA
GO:0000795
P40692 (UniProtKB)
IBA
GO:0001673
P40692 (UniProtKB)
IEA
GO:0003682
P40692 (UniProtKB)
IEA
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005515
P40692 (UniProtKB)
IPI
GO:0005524
P40692 (UniProtKB)
IEA
GO:0005634
P40692 (UniProtKB)
IC
GO:0005654
P40692 (UniProtKB)
IDA
GO:0005654
P40692 (UniProtKB)
TAS
GO:0005654
P40692 (UniProtKB)
TAS
GO:0005654
P40692 (UniProtKB)
TAS
GO:0005654
P40692 (UniProtKB)
TAS
GO:0005654
P40692 (UniProtKB)
TAS
GO:0005712
P40692 (UniProtKB)
IBA
GO:0006298
P40692 (UniProtKB)
IGI
GO:0006298
P40692 (UniProtKB)
IGI
GO:0006298
P40692 (UniProtKB)
TAS
GO:0006303
P40692 (UniProtKB)
IEA
GO:0007060
P40692 (UniProtKB)
IEA
GO:0007129
P40692 (UniProtKB)
IEA
GO:0007283
P40692 (UniProtKB)
IEA
GO:0008630
P40692 (UniProtKB)
IEA
GO:0016020
P40692 (UniProtKB)
IDA
GO:0016321
P40692 (UniProtKB)
IEA
GO:0016446
P40692 (UniProtKB)
IBA
GO:0016887
P40692 (UniProtKB)
IBA
GO:0032137
P40692 (UniProtKB)
IEA
GO:0032389
P40692 (UniProtKB)
IBA
GO:0043060
P40692 (UniProtKB)
IEA
GO:0045141
P40692 (UniProtKB)
IEA
GO:0045190
P40692 (UniProtKB)
IEA
GO:0045950
P40692 (UniProtKB)
IEA
GO:0048477
P40692 (UniProtKB)
IEA
GO:0051257
P40692 (UniProtKB)
IEA
GO:0003697
P40692 (UniProtKB)
IDA
GO:0005515
P40692 (UniProtKB)
IPI
GO:0032407
P40692 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 MLH1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
Turcot syndrome (disorder) 0.492486326 47 7 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Hereditary Non-Polyposis Colon Cancer Type 2 0.440271442 39 18 BeFree_CLINVAR_CTD_human_MGD_UNIPROT
Torre-Muir syndrome 0.365971721 22 0 BeFree_CLINVAR_CTD_human_ORPHANET
Hereditary Nonpolyposis Colorectal Cancer 0.329468128 439 472 BeFree_CLINVAR_GAD_ORPHANET
Hereditary Nonpolyposis Colorectal Neoplasms 0.239826141 52 0 CTD_human_GAD_LHGDN
Colorectal Neoplasms 0.23010898 72 0 BeFree_CTD_human_GAD_LHGDN
Colorectal Cancer 0.16 422 19 BeFree_GAD
ovarian neoplasm 0.133068936 12 0 BeFree_CTD_human_LHGDN
Prostatic Neoplasms 0.1254487 3 0 CTD_human_LHGDN
Neoplasm Metastasis 0.125438769 12 0 BeFree_CTD_human_LHGDN

基因相关服务

基因相关服务

联系方式

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