Property Summary

NCBI Gene PubMed Count 42
Grant Count 140
R01 Count 88
Funding $15,595,714.97
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 0.000
lung cancer 1.900 0.002
Pick disease -1.600 0.000
progressive supranuclear palsy -1.600 0.009
ovarian cancer 1.200 0.000

Synonym

Accession P54277 D3DPI1 Q4VAL4 Q5FBZ3 Q5FBZ6 Q5FBZ8
Symbols MLH2
PMSL1
hPMS1
HNPCC3

Gene

PDB

2CS1  

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)
More...

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.
More...