PMS1 (PMS1 homolog 1, mismatch repair system component)

Gene Basic Information

Gene Basic Information

symbol:
PMS1
locus group:
protein-coding gene
location:
2q32.2
gene_family:
alias symbol:
MLH2
alias name:
None
entrez id:
5378
ensembl gene id:
ENSG00000064933
ucsc gene id:
uc010fry.2
refseq accession:
NM_000534
hgnc_id:
HGNC:9121
approved reserved:
1994-12-13

Chromosome Location

Chromosome Location

2q32.2

Gene Summary

Gene Summary

PMS1（Postmeiotic Segregation Increased 1）属于DNA错配修复（MMR）基因家族，该家族还包括MLH1、MSH2、MSH6等成员，共同负责识别和修复DNA复制过程中产生的碱基错配或插入/缺失错误，维持基因组稳定性。PMS1编码的蛋白质与MLH1形成异源二聚体MutLα复合物，作为MMR系统的核心组分，主要在细胞核内发挥作用，通过核酸内切酶活性启动错误链的切除，并依赖其他修复蛋白完成正确链的合成。若PMS1发生功能丧失性突变（如无义突变或移码突变），会导致错配修复缺陷，引发微卫星不稳定性（MSI）和突变累积，显著增加癌症风险，尤其是林奇综合征（遗传性非息肉病性结直肠癌，HNPCC）的易感性。此外，PMS1突变还与子宫内膜癌、卵巢癌等恶性肿瘤相关。当PMS1过表达时，可能增强DNA修复效率，但异常高表达可能干扰正常细胞周期调控；而表达降低则直接削弱MMR功能，导致自发突变率升高，加速肿瘤发生。该基因家族成员均含有保守的ATP酶结构域和核酸相互作用区域，通过协同作用确保修复精度。研究还发现PMS1与细胞凋亡信号通路存在交叉调控，其缺失可能影响p53等抑癌基因的功能。目前针对PMS1缺陷型肿瘤的免疫检查点抑制剂治疗（如PD-1抗体）显示出较好疗效，这与突变累积产生的新抗原增加有关。

ChineseEnglish

This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]

OMIM entry for PMS1     Wikipedia entry for PMS1

Gene Sequence

Gene Sequence

Nucleotide sequence of PMS1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MKQLPAATVR LLSSSQIITS VVSVVKELIE NSLDAGATSV
41DVKLENYGFD KIEVRDNGEG IKAVDAPVMA MKYYTSKINS
81 HEDLENLTT YGFRGEALGS ICCIAEVLIT TRTAADNFST
121QYVLDGSGHI LSQKPSHLGQ GTTVTALRLF KNLPVRKQFY
161S TAKKCKDE IKKIQDLLMS FGILKPDLRI VFVHNKAVIW
201QKSRVSDHKM ALMSVLGTAV MNNMESFQYH SEESQIYLSG
241FL PKCDADH SFTSLSTPER SFIFINSRPV HQKDILKLIR
281HHYNLKCLKE STRLYPVFFL KIDVPTADVD VNLTPDKSQV
321LLQ NKESVL IALENLMTTC YGPLPSTNSY ENNKTDVSAA
361DIVLSKTAET DVLFNKVESS GKNYSNVDTS VIPFQNDMHN
401DESG KNTDD CLNHQISIGD FGYGHCSSEI SNIDKNTKNA
441FQDISMSNVS WENSQTEYSK TCFISSVKHT QSENGNKDHI
481DESGE NEEE AGLENSSEIS ADEWSRGNIL KNSVGENIEP
521VKILVPEKSL PCKVSNNNYP IPEQMNLNED SCNKKSNVID
561NKSGKV TAY DLLSNRVIKK PMSASALFVQ DHRPQFLIEN
601PKTSLEDATL QIEELWKTLS EEEKLKYEEK ATKDLERYNS
641QMKRAIE QE SQMSLKDGRK KIKPTSAWNL AQKHKLKTSL
681SNQPKLDELL QSQIEKRRSQ NIKMVQIPFS MKNLKINFKK
721QNKVDLEE K DEPCLIHNLR FPDAWLMTSK TEVMLLNPYR
761VEEALLFKRL LENHKLPAEP LEKPIMLTES LFNGSHYLDV
801LYKMTADDQ RYSGSTYLSD PRLTANGFKI KLIPGVSITE
841NYLEIEGMAN CLPFYGVADL KEILNAILNR NAKEVYECRP
881RKVISYLEGE AVRLSRQLP MYLSKEDIQD IIYRMKHQFG
921NEIKECVHGR PFFHHLTYLP ETT
结构预测来自 AlphaFold DB（UniProt: P54277），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of PMS1:           Showing partial SNPs
rs256551       rs256552       rs5743200       rs5743201       rs5743202       rs5743203       rs5743204       rs5743205       rs56303883       rs112239654       rs113205788       rs113726942       rs114239515       rs140256818       rs144521304       rs184579285       rs188942576      

Gene Expression

Gene Expression

Tissue expression of PMS1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
CATAACAAGGCAGTTATTTGGC
59
TATTGTTCATAACAGCAGTCCC
59
CAAGCGTAGATGTTAAACTGG
57
GTTACAGTTGTACCTTGACCA
58
CATAACAAGGCAGTTATTTGGC
59
TATTGTTCATAACAGCAGTCCC
59
AAGCGTAGATGTTAAACTGGAG
58
AACAGCCTTGATACCCTCC
59
CACAAGCGTAGATGTTAAACTG
58
TCAACAGCCTTGATACCCT
58
GTTATTTAGAGGGAGAAGCAGTG
59
GTAGATAATGTCTTGGATGTCCTC
59
ATTACAACAAGAACGGCTGC
60
AGTTACAGTTGTACCTTGACCA
59
GTACATAACAAGGGAGAAGCA
58
AGATAATGTCTTGGATGTCCTC
58
GTGAGAAGATATGAAGAGAAGGC
59
GTGACTCCTGTTCAATGGC
59
CATAACAAGGCAGTTATTTGGC
59
TATTGTTCATAACAGCAGTCCC
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of PMS1 (and its protein):

[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
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for PMS1:

GO ID
Protein
Source DB
GO:0005524
B7ZAA0 (UniProtKB)
IEA
GO:0006298
B7ZAA0 (UniProtKB)
IEA
GO:0030983
B7ZAA0 (UniProtKB)
IEA
GO:0005524
E9PC65 (UniProtKB)
IEA
GO:0006298
E9PC65 (UniProtKB)
IEA
GO:0030983
E9PC65 (UniProtKB)
IEA
GO:0000795
P54277 (UniProtKB)
IBA
GO:0003677
P54277 (UniProtKB)
TAS
GO:0003697
P54277 (UniProtKB)
IBA
GO:0005524
P54277 (UniProtKB)
IEA
GO:0005634
P54277 (UniProtKB)
TAS
GO:0005712
P54277 (UniProtKB)
IBA
GO:0006298
P54277 (UniProtKB)
IEA
GO:0016887
P54277 (UniProtKB)
IBA
GO:0030983
P54277 (UniProtKB)
IEA
GO:0032389
P54277 (UniProtKB)
IBA
GO:0005524
Q3BDU3 (UniProtKB)
IEA
GO:0006298
Q3BDU3 (UniProtKB)
IEA
GO:0030983
Q3BDU3 (UniProtKB)
IEA
GO:0005524
Q5FBZ9 (UniProtKB)
IEA
GO:0006298
Q5FBZ9 (UniProtKB)
IEA
GO:0030983
Q5FBZ9 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating PMS1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
Hereditary Nonpolyposis Colorectal Cancer 0.124885954 18 0 BeFree_ORPHANET
Hypertensive disease 0.007101096 3 0 GAD
Colorectal Cancer 0.00554839 5 0 BeFree_GAD
Pancreatic Neoplasm 0.005091382 2 0 GAD_LHGDN
Malignant neoplasm of urinary bladder 0.004734064 2 0 GAD
B-Cell Lymphomas 0.002995792 1 0 BeFree_LHGDN
Lymphoma 0.00272435 1 0 LHGDN
Malignant neoplasm of lung 0.002638474 2 6 BeFree_GAD
Malignant neoplasm of ovary 0.002638474 2 0 BeFree_GAD
Epithelial ovarian cancer 0.002367032 1 0 GAD

Related Publications

Related Publications

Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan.
Baltayev N, Abdikerim S, Afonin G, Rasulov A, Zhunussova A, Kaidarova D, Zhunussova G Sci Rep IF: 4.9 2026-04-14
Human PMS1-dependent non-canonical mismatch repair engages with MBD4 to repair methylated CpG deamination.
Le Ven A, Vanhuele S, Ganier O, Houy A, Kahn A, Rodrigues M, Stern MH, Guerois R, Silveira AB Nucleic Acids Res IF: 15.0 2026-08-10
Targeted quantification assays for DNA repair and handling proteins and interactions in Huntington's disease models.
Greco TM, Hutton JE, Justice JL, Reed TJ, Vogt TF, Prasad BC, Cristea IM bioRxiv 2026-07-29
PMS1 loss defines distinct mismatch repair complex deficiencies across dog and human cancers.
Wilsker D, Begum A, Brooks A, Parchment RE, Doroshow JH Mol Cancer Ther IF: 6.9 2026-07-22
Targeting DNA mismatch repair in Huntington's disease.
Bunting EL, Panhale A, McColgan P, Koi M, Brundin P, Carethers JM Trends Neurosci IF: 15.7 2026-07-11
KLF7 as a biomarker for the pre-metastatic state promotes colorectal cancer liver metastasis via TGFβ autocrine signaling.
Fang X, Huang H, Zhao Z, Yang L, Huang F, Li J, Meng Z, He S, Li T, Yang S, Suo M, Lv J, Chen Y, Zhang C, Li N Cancer Lett IF: 11.8 2026-02-28
Mismatch repair MLH complexes make distinct contributions to post-replicative mismatch repair versus trinucleotide repeat expansions.
Casazza KM, Williams GM, Johengen L, Keller M, Hess LD, Phelps S, Lamb NA, Surtees JA bioRxiv 2026-01-23
Sex-biased transcriptomic landscapes in bipolar disorder: integrating neurobiology and clinical heterogeneity through cross-study meta-analysis.
Davarinejad O, Moradi MT, Safarzadeh A, Jalalvand M, Kazemisafa F Biol Sex Differ IF: 3.635 2026-05-08
Mechanism of MutLβ-dependent DNA expansions.
Kadyrova LY, Kadyrov FF, Hayward B, Usdin K, Kadyrov FA Proc Natl Acad Sci U S A IF: 9.5 2026-04-28
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Zhang R, Tian L, He M, Li K Curr Issues Mol Biol IF: 4.1 2026-01-30

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