PMS1 Gene
protein-coding GIFtS: 57
GCID: GC02P190648
|
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)(Previous name: postmeiotic segregation increased (S. cerevisiae) 1 )
(Previous symbol: PMSL1)
| |
Aliases
for PMS1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae)1 2 | | Human Homolog Of Yeast MutL2 | | PMSL11 2 3 5 | | Mismatch Repair Gene PMSL12 | | DNA Mismatch Repair Protein PMS12 3 | | PMS1 Protein Homolog 12 | | HNPCC32 5 | | Rhabdomyosarcoma Antigen MU-RMS-40.10B2 | | Postmeiotic Segregation Increased (S. Cerevisiae) 11 | | Rhabdomyosarcoma Antigen MU-RMS-40.10E2 | | HPMS11 | | |
Export aliases for PMS1 gene to outside databasesPrevious GC identifers: GC02P188823 GC02P189331 GC02P190612 GC02P190851 GC02P190474 GC02P190357 GC02P182508 |
Summaries
for PMS1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PMS1:
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to beinvolved 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 combinationwith mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. (provided byRefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277Function: Probably involved in the repair of mismatches in DNA
Gene Wiki entry for PMS1
|
Genomic Views
for PMS1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PMS1 gene promoter:
STAT5B STAT1 GATA-3 STAT6 STAT1beta STAT1alpha GATA-2 GATA-1 STAT2 Ik-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for PMS1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PMS1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q31.1 Ensembl cytogenetic band: 2q32.2 HGNC cytogenetic band: 2q31-q33PMS1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P190648: view genomic region
(about GC identifiers)
Start:
|
190,648,811 bp from pter |
End:
|
190,742,355 bp from pter |
Size:
|
93,545 bases |
Orientation:
|
plus strand |
|
Proteins
for PMS1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277 (See
protein sequence)Recommended Name: PMS1 protein homolog 1 Size: 932 amino acids; 105830 Da
Subunit: The MutL-beta complex is a heterodimer of PMS1 and MLH1
Subcellular location: Nucleus (Potential)
1 PDB 3D structure from  and Proteopedia  for PMS1:2CS1 (3D)
Secondary accessions: D3DPI1 Q4VAL4 Q5FBZ3 Q5FBZ8Alternative splicing: 3 isoforms: P54277-1 P54277-2 P54277-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PMS1: NX_P54277
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P54277
PMS1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_000525.1 NP_001121615.1 NP_001121616.1
ENSEMBL proteins: ENSP00000406490 ENSP00000386623 ENSP00000413837 ENSP00000343888 ENSP00000387125 ENSP00000363959 ENSP00000406225 ENSP00000410082 ENSP00000401064 ENSP00000411151 ENSP00000391136 ENSP00000389938 ENSP00000387169 ENSP00000396232 ENSP00000404492 ENSP00000398378
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
PMS1 for ontologies About GeneDecksing
PMS1 Antibody Products:
Assay Products for PMS1: |
Protein
Domains /
Families
for PMS1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PMS1 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P54277ProtoNet protein and cluster: P54277 1 Blocks protein family: IPB002099 DNA mismatch repair protein
UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277Similarity: Belongs to the DNA mismatch repair MutL/HexB familySimilarity: Contains 1 HMG box DNA-binding domain |
Function
for PMS1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277Function: Probably involved in the repair of mismatches in DNA Genatlas biochemistry entry for PMS1:postmeiotic segregation increased (S cerevisiae) 1, yeast mutator gene homolog (bacterial mutL) heterodimerizing withMLH1,involved in mismatch repair
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PMS1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PMS1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): PMS1 (NM_000534) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PMS1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMS1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS1 |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
PMS1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Pms1tm1Lisk for PMS1
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Pms1):
PMS1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PMS1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Lagging Strand Synthesis | |
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PMS1
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PMS1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/57 Interacting proteins for PMS1 (P542773 ENSP000004064904) via UniProtKB, MINT, STRING, and/or I2D (see all 57)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006200 | ATP catabolic process |
IBA | -- | | GO:0006298 | mismatch repair |
IBA | -- | | GO:0007131 | reciprocal meiotic recombination |
IBA | -- | | GO:0007264 | small GTPase mediated signal transduction |
-- | -- |
PMS1 for ontologies About GeneDecksing
|
Drugs & Compounds
for PMS1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PMS1 for compounds About GeneDecksing
 Browse Tocris compounds for PMS1
2 Novoseek chemical compound relationships for PMS1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mhs-2 |
87.9 |
2 |
9616736 (1), 7576988 (1) |
| 5-aza-2'deoxycytidine |
39.1 |
4 |
15682421 (1), 11479923 (1) |
Search CenterWatch for drugs/clinical trials and news about PMS1
|
Transcripts
for PMS1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PMS1 gene (3 alternative transcripts): NM_000534.4 NM_001128143.1 NM_001128144.1 Unigene Cluster for PMS1: PMS1 postmeiotic segregation increased 1 (S. cerevisiae) Hs.111749 [show with all ESTs]Unigene Representative Sequence: NM_00053418/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19): ENST00000441310(uc010zga.1 uc010zgb.1 uc002urh.4 uc002urk.4 uc002uri.4 uc010zgc.2 uc010zgd.2 uc002urm.3)
ENST00000409985(uc010zfz.1) ENST00000446877 ENST00000342075 ENST00000409823(uc010fry.1)
ENST00000374826 ENST00000450931(uc002urj.3) ENST00000421722 ENST00000424766
ENST00000447232(uc010frz.3 uc002url.3) ENST00000447734 ENST00000420421
ENST00000424307(uc002urn.1) ENST00000424059 ENST00000409593 ENST00000483293
ENST00000452382 ENST00000418224
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PMS1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PMS1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): PMS1 (NM_000534) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PMS1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMS1 |
Additional cDNA sequence: AB102869.1 AB102870.1 AB102871.1 AB102872.1 AB102873.1 AB102874.1 AB102875.1 AB102876.1 AB102877.1 AK295602.1 AK297440.1 AK304634.1 AK308311.1 AK316215.1 BC008410.1 BC036376.1 BC066989.1 BC084548.1 BC096330.1 BC096332.1 BT006947.1 EF491797.1 22 DOTS entries: DT.100845863 DT.95268270 DT.120935947 DT.92429421 DT.99950261 DT.120936030 DT.95268272 DT.120936018 DT.97846820 DT.120936035 DT.40254979 DT.95214703 DT.100029520 DT.101968479 DT.120935969 DT.120936008 DT.120935923 DT.120935933 DT.95282745 DT.120935998 DT.40211974 DT.40248115 24/179 AceView cDNA sequences (see all 179): BE466354 BE467223 AI563888 AA419336 BQ771615 BE217937 AL043808 BQ881144 CB157373 BI438347 BM697706 BF061313 AI076038 CA396728 AA282075 AA297925 AL043785 AI348556 AA411161 CB161021 CR610658 BU623174 AI693213 BX117693
GeneLoc Exon Structure
5/19 Alternative Splicing Database (ASD) splice patterns (SP) for PMS1 (see all 19) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · |
|---|
|
| SP1: | | | | | | | - | | - | | | | | | | | | | | | | | | | - | | - | | | | | | - | | - | | - | | | | | | | | | | | | - | | - | | |
| SP2: | | | | | | | | | - | | - | | | | | | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | | | | | - | | - | | |
| SP3: | | | | | | | | | - | | - | | | | | | | | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | | | | | - | | - | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | - | | - | | - | | | | | | | | | | | | - | | - | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | - | | - | | - | | | | | | | | | | | | - | | - | |
| ExUns: | 16b | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | · | 19d | ^ | 20a | · | 20b | · | 20c | · | 20d |
|---|
|
| SP1: | - | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP3: | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP4: | - | | | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP5: | - | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for PMS1
|
Expression
for PMS1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PMS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTATTTTTT
About this image
See PMS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PMS1
SOURCE GeneReport for Unigene cluster: Hs.111749
SABiosciences Expression via Pathway-Focused PCR Arrays including PMS1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PMS1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PMS1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PMS1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PMS1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS1 |
Orthologs
for PMS1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for PMS1 gene from 6/20 species (see all 20) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
PMS11 |
PMS1 postmeiotic segregation increased 1 (S. cerevisiae) |
68.39(n)
59.63(a) |
|
423980 NM_001006508.1 NP_001006508.1 |
lizard
(Anolis carolinensis) |
Reptilia |
PMS16 |
-- |
53(a) |
1 ↔ 1 |
2(134909793-134953241) |
African clawed frog
(Xenopus laevis) |
Amphibia |
MGC527792 |
similar to PMS1 postmeiotic segregation increased 1 more |
72.67(n) |
|
BC044098.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
pms12 |
PMS1 postmeiotic segregation increased 1 (S. cerevisiae) |
74.08(n) |
|
368631 BC055651.1 |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
25(a) |
1 ↔ 1 |
Group11.2(242177-245309) |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
mutL6 |
methyl-directed mismatch repair protein |
19(a) |
1 → many |
Chromosome(4395435-4397282) |
ENSEMBL Gene Tree for PMS1 (if available)
TreeFam Gene Tree for PMS1 (if available) |
Paralogs
for PMS1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PMS1 gene
- PMS22
13 SIMAP similar genes for PMS1 using alignment to 20 protein entries: PMS1_HUMAN (see all proteins):DKFZp781M0253 FAM175A PMS2P3 DKFZp686J1569 PMS8 PMS2L5
PMS2P1 PMS5 MLH1 LOC389527 PMS2 MLH3
HMGB1
PMS1 for paralogs About GeneDecksing
|
Genomic Variants
for PMS1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PMS1 (190648811 - 190742355 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PMS1
1 CNV: 6016
Human Gene Mutation Database (HGMD): PMS1
Locus Specific Mutation Databases (LSDB): PMS1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PMS1 |
|
Disorders
/ Diseases
for PMS1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PMS1 for disorders About GeneDecksing
OMIM gene information: 600258
OMIM disorders: --
UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277
Defects in PMS1 are the cause of hereditary non-polyposis colorectal cancer type 3 (HNPCC3) [MIM:600258].Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype(also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility.It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancersof the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form ofinherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCCoriginate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. TypeI: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon.Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach,small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdamcriteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or moregeneration affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposissyndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or onlypartially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected
20/47  diseases for PMS1 (see all 47): About MalaCardslynch syndrome colorectal cancer colorectal cancer, hereditary nonpolyposis, type 3 peutz-jeghers syndrome
muir-torre syndrome rhabdomyosarcoma familial adenomatous polyposis adenomatous polyposis coli
turcot syndrome polyposis squamous cell carcinoma of the head and neck squamous cell carcinoma
adult t-cell leukemia sporadic breast cancer ovarian cancer breast-ovarian cancer
fanconi's anemia epithelial ovarian cancer essential hypertension familial colorectal cancer
2 diseases from the University of Copenhagen DISEASES database for PMS1:Lynch syndrome Colorectal cancer 10/31 Novoseek disease relationships for PMS1 gene (see all 31) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| microsatellite instability |
86.8 |
8 |
8766523 (1), 10748105 (1), 9082661 (1), 9650548 (1) (see all 8) |
| hereditary nonpolyposis colon cancer |
82.6 |
3 |
8895729 (1), 9491849 (1), 10712226 (1) |
| colorectal cancer |
80.6 |
58 |
10480359 (3), 11691795 (3), 9500994 (2), 9419392 (2) (see all 46) |
| lynch syndrome |
80.2 |
2 |
7491839 (1), 16136382 (1) |
| germ-line mutation |
76.8 |
5 |
10660333 (1), 9709044 (1), 7726159 (1), 9311737 (1) (see all 5) |
| turcot syndrome |
63.6 |
1 |
11691795 (1) |
| colon cancer |
56.1 |
3 |
9110401 (1), 8880570 (1), 9491849 (1) |
| somatic mutations |
55.6 |
1 |
9500994 (1) |
| colorectal tumors |
55.5 |
2 |
7491839 (1), 10480359 (1) |
| colorectal carcinoma |
54.2 |
3 |
7812952 (1), 9855004 (1), 7585634 (1) |
Human Genome Epidemiology (HuGE) Navigator: PMS1 (19 documents)
Export disorders for PMS1 gene to outside databases
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Publications
for PMS1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for PMS1 gene, integrated from 9 sources (see all 161):
(articles sorted by number of sources associating them with PMS1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. (PubMed id 8072530)1, 2, 3 Nicolaides N.C.... Kinzler K.W. (1994)
- Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. (PubMed id 10480359)1, 2, 9 Wang Q....Puisieux A. (1999)
- Identification of a second MutL DNA mismatch repair complex (hPMS1 and hMLH1) in human epithelial cells. (PubMed id 10748105)2, 9 Leung W.K....Sepulveda A.R. (2000)
- Isolation and characterization of the 5' region of the human mismatch repair gene hPMS1. (PubMed id 9500994)1, 9 Yanagisawa Y....Maruyama K. (1998)
- ATM-mediated stabilization of hMutL DNA mismatch repair proteins augments p53 activation during DNA damage. (PubMed id 15226443)1, 9 Luo Y....Lin W.C. (2004)
- The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2. (PubMed id 11292842)1, 9 Kondo E.... Fukushige S. (2001)
- Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2. (PubMed id 17148452)1, 9 Cannavo E....Jiricny J. (2007)
- Mismatch repair gene expression in malignant lymphoproliferative disorders of B-cell origin. (PubMed id 11999575)1, 9 Kotoula V....Papadimitriou C.S. (2002)
- Common variants in mismatch repair genes and risk of colorectal cancer. (PubMed id 18364438)1, 9 Koessler T....Pharoah P.D. (2008)
- Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. (PubMed id 18723338)1, 9 Mann A....Song H. (2008)
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External Searches for PMS1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing PMS1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing PMS1 gene
(According to HUGE)
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| -- |
Specialized Databases showing PMS1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for PMS1 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for PMS1 | Genetics and Cytogenetics in Oncology and Haematology | | Hereditary non-polyposis colorectal cancer db | http://www.nfdht.nl/ | | NIEHS-SNPs | http://egp.gs.washington.edu/data/pms1/ |
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| | |
About This Section
| Patent Information for PMS1 gene:
Search GeneIP for patents involving PMS1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PMS1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | |  | OriGene Antibodies for PMS1 | | OriGene shRNA RFP for PMS1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PMS1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PMS1 | | | OriGene Protein Over-expression Lysate for PMS1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for PMS1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PMS1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PMS1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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