PMS1 Gene

Name	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPMS1 is a member of the MutL homolog family that plays a role in maintaining genomic integrity through DNA mismatch repair. Although its function was initially less clear compared with other MMR proteins, recent studies have demonstrated that DNA damage triggers an ATM‐dependent stabilization of PMS1, promoting its accumulation and nuclear localization. In particular, PMS1 forms a complex with MLH1 that is critical for facilitating p53 phosphorylation during the DNA damage response, and proteomic analyses have identified specific interacting partners for PMS1 that support its involvement in the coordination of postreplicative repair processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its canonical role in DNA repair, PMS1 has been assessed for its potential contributions to tumor biology. Although investigations into common PMS1 variants in ovarian cancer suggest that they may not significantly heighten disease risk, altered PMS1 expression has been observed in malignancies. For example, PMS1 has been identified as an immunogenic tumor antigen in pancreatic ductal adenocarcinoma, and reduced PMS1 protein levels are associated with microsatellite instability in oral squamous cell carcinomas—findings that imply a possible role in tumor pathogenesis and progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its involvement in DNA repair and cancer, PMS1 has emerged from genome‐wide association studies as a gene of interest in diverse physiological contexts. Variants in PMS1 have been implicated in the regulation of blood pressure, and an SNP in the 5′ untranslated region of PMS1 has shown a significant association with serum ferritin levels in Chinese males, hinting at a possible role in iron metabolism. Moreover, rare loss‐of‐function variants in PMS1 have been detected in familial breast cancer cases, further broadening the clinical and biological relevance of this gene."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yuhong Luo, Fang-Tsyr Lin, Weei-Chin Lin "}, {"type": "b", "children": [{"type": "t", "text": "ATM-mediated stabilization of hMutL DNA mismatch repair proteins augments p53 activation during DNA damage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.24.14.6430-6444.2004"}], "href": "https://doi.org/10.1128/MCB.24.14.6430-6444.2004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15226443"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15226443"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Elda Cannavo, Bertran Gerrits, Giancarlo Marra, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M609989200"}], "href": "https://doi.org/10.1074/jbc.M609989200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17148452"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17148452"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Honglin Song, Susan J Ramus, Lydia Quaye, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants in mismatch repair genes and risk of invasive ovarian cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Carcinogenesis (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/carcin/bgl089"}], "href": "https://doi.org/10.1093/carcin/bgl089"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16774946"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16774946"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yimin Wang, Xuanbo Zhou, Yang Song, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2013.04.030"}], "href": "https://doi.org/10.1016/j.gene.2013.04.030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23608172"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23608172"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Adebowale Adeyemo, Norman Gerry, Guanjie Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide association study of hypertension and blood pressure in African Americans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1000564"}], "href": "https://doi.org/10.1371/journal.pgen.1000564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19609347"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19609347"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ming Liao, Jianying Shi, Lirong Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0105844"}], "href": "https://doi.org/10.1371/journal.pone.0105844"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25162662"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25162662"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "K K Landry, D J Seward, J A Dragon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cancergen.2021.11.004"}], "href": "https://doi.org/10.1016/j.cancergen.2021.11.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34852986"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34852986"}]}]}]}
Synonyms	HPMS1, HNPCC3, PMSL1, MLH2
Proteins	PMS1_HUMAN
NCBI Gene ID	5378
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PMS1 has 6,998 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 123 datasets.

Click the + buttons to view associations for PMS1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PMS1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PMS1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PMS1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PMS1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PMS1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PMS1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PMS1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PMS1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PMS1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PMS1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of PMS1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PMS1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PMS1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with PMS1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PMS1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PMS1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PMS1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PMS1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PMS1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PMS1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of PMS1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PMS1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PMS1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PMS1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing PMS1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing PMS1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PMS1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PMS1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing PMS1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PMS1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PMS1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PMS1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PMS1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of PMS1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PMS1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving PMS1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PMS1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with PMS1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PMS1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PMS1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PMS1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.