Property Summary

NCBI Gene PubMed Count 42
PubMed Score 395.68
PubTator Score 81.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
acute quadriplegic myopathy 1.095 3.2e-05
lung cancer 1.900 1.8e-03
Pick disease -1.600 4.0e-05
progressive supranuclear palsy -1.600 8.6e-03
ovarian cancer 1.200 4.0e-10

Gene RIF (24)

PMID Text
25162662 Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.
24204293 These studies establish that the Mlh1-Pms1 endonuclease is required for MMR in a previously uncharacterized Exo1-independent MMR pathway.
23608172 PMS1 is most likely deregulated by post-transcriptional modification in oral squamous cell carcinoma.
20496165 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20414254 Observational study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19609347 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19430479 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
19237606 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19115210 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19012493 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18723338 Observational study of gene-disease association. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
18364438 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17494052 Observational study of gene-disease association. (HuGE Navigator)
17148452 In pstreplicative mismatch repair, this protein interacts wiwth MutL protein.
16774946 Observational study of gene-disease association. (HuGE Navigator)
15856462 hPMS1 may be useful as CD4+ helper T cell antigens for immunotherapy of pancreatic cancer patients.
15226443 Data show that DNA damage induces the accumulation of hPMS1, hPMS2, and hMLH1 through ataxia-telangiectasia-mutated (ATM)-mediated protein stabilization.
11999575 The expression of hMLH1 and hPMS1 was significantly low in some large B-cell lymphomas and in mantle cell lymphomas of the blastoid type and may be related to the natural history of these neoplasms.
11809883 hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA

AA Sequence

MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMA      1 - 70
MKYYTSKINSHEDLENLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQG     71 - 140
TTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMAL    141 - 210
MSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHY    211 - 280
NLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNK    281 - 350
TDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGH    351 - 420
CSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENS    421 - 490
SEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKV    491 - 560
TAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLER    561 - 630
YNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIP    631 - 700
FSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAE    701 - 770
PLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMAN    771 - 840
CLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGN    841 - 910
EIKECVHGRPFFHHLTYLPETT                                                    911 - 932
//

Text Mined References (46)

PMID Year Title
25162662 2014 Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.
24204293 2013 Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway.
23608172 2013 The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
21269460 2011 Initial characterization of the human central proteome.
20496165 2011 Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
20414254 2010 Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19609347 2009 A genome-wide association study of hypertension and blood pressure in African Americans.
19430479 2009 Genome-wide association study of blood pressure and hypertension.
19237606 2009 Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19115210 2009 Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
19012493 2009 Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.
18723338 2008 Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18484899 2008 Altered expression of mismatch repair proteins associated with acquisition of microsatellite instability in a clonal model of human T lymphocyte aging.
18364438 2008 Common variants in mismatch repair genes and risk of colorectal cancer.
17494052 2007 Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers.
17452356 2007 Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human.
17148452 2007 Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.
16774946 2006 Common variants in mismatch repair genes and risk of invasive ovarian cancer.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16136382 2005 Lynch syndrome genes.
15856462 2005 Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15226443 2004 ATM-mediated stabilization of hMutL DNA mismatch repair proteins augments p53 activation during DNA damage.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11999575 2002 Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin.
11809883 2002 hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA.
11292842 2001 The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
10828585 2000 Assignment of the human postmeiotic segregation increased (S. cerevisiae) 1 (PMS1) to chromosome 2q31.1 by radiation hybrid mapping.
10748105 2000 Identification of a second MutL DNA mismatch repair complex (hPMS1 and hMLH1) in human epithelial cells.
10480359 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
10459502 Expression of DNA mismatch repair genes in naevi.
9500994 1998 Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8666228 1996 Biochemistry and genetics of eukaryotic mismatch repair.
8128251 1994 Mutation of a mutL homolog in hereditary colon cancer.
8072530 1994 Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.
7980603 1994 Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes.