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PMS1 Gene

protein-coding GIFtS: 60
GCID: GC02P190648

PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae)

(Previous name: postmeiotic segregation increased (S. cerevisiae) 1)
(Previous symbol: PMSL1)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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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
hPMS1²

External Ids:	HGNC: 9121¹	Entrez Gene: 5378²	Ensembl: ENSG00000064933⁷	OMIM: 600258⁵	UniProtKB: P54277³

Export aliases for PMS1 gene to outside databases

Previous GC identifers: GC02P188823 GC02P189331 GC02P190612 GC02P190851 GC02P190474 GC02P190357 GC02P182508

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PMS1 Gene:

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)

GeneCards Summary for PMS1 Gene:

PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae)) is a protein-coding gene. Diseases associated with PMS1 include pms1-related lynch syndrome, and lynch syndrome. GO annotations related to this gene include mismatched DNA binding and ATPase activity. An important paralog of this gene is PMS2.

UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277

Function: Probably involved in the repair of mismatches in DNA

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000002.12 NT_005403.18 NC_018913.2

Regulatory elements:

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

SwitchGear Promoter luciferase reporter plasmids (see all 2): PMS1 promoter sequence

Search Chromatin IP Primers for PMS1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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-q33

PMS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PMS1 gene location

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

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

1 PDB 3D structure from and Proteopedia for PMS1:

2CS1 (3D)

Secondary accessions: D3DPI1 Q4VAL4 Q5FBZ3 Q5FBZ6 Q5FBZ8

Alternative splicing: 4 isoforms: P54277-1 P54277-2 P54277-3 P54277-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PMS1: NX_P54277

Explore proteomics data for PMS1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See PMS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (5 alternative transcripts):

NP_000525.1 NP_001121615.1 NP_001121616.1 NP_001276337.1 NP_001276338.1

ENSEMBL proteins:

ENSP00000406490 ENSP00000386623 ENSP00000413837 ENSP00000343888 ENSP00000387125

ENSP00000363959 ENSP00000406225 ENSP00000410082 ENSP00000401064 ENSP00000411151

ENSP00000391136 ENSP00000389938 ENSP00000387169 ENSP00000396232 ENSP00000404492

ENSP00000398378

PMS1 Human Recombinant Protein Products:

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PMS1 Assay Products:

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	Cloud-Clone Corp. ELISAs for PMS1 Cloud-Clone Corp. CLIAs for PMS1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 7):

IPR002099 DNA_mismatch_repair_fam

IPR020568 Ribosomal_S5_D2-typ_fold

IPR009071 HMG_box_dom

IPR014762 DNA_mismatch_repair_CS

IPR003594 HATPase_ATP-bd

Graphical View of Domain Structure for InterPro Entry P54277

ProtoNet protein and cluster: P54277

1 Blocks protein domain: IPB002099 DNA mismatch repair protein

UniProtKB/Swiss-Prot: PMS1_HUMAN, P54277

Similarity: Belongs to the DNA mismatch repair MutL/HexB family

Similarity: Contains 1 HMG box DNA-binding domain

PMS1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PMS1_HUMAN, P54277

Function: 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

with MLH1,involved in mismatch repair

Gene Ontology (GO): Selected molecular function terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	TAS	8072530
GO:0003697	single-stranded DNA binding	IBA	--
GO:0005524	ATP binding	IEA	--
GO:0016887	ATPase activity	IBA	--
GO:0030983	mismatched DNA binding	IEA	--

PMS1 for ontologies About GeneDecksing

Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Pms1):

tumorigenesis

PMS1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Pms1^tm1Lisk for PMS1

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PMS1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PMS1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PMS1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PMS1

miRNA Products:		miRTarBase miRNAs that target PMS1: hsa-mir-15a-5p (MIRT000892), hsa-mir-16-5p (MIRT000891)

		Block miRNA regulation of human, mouse, rat PMS1 using miScript Target Protectors
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		Predesigned siRNA for gene silencing in human, mouse, rat PMS1

Gene Editing
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DNA2.0 Custom Protein Engineering Service for PMS1

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		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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PMS1
		Browse ESI BIO Cell Lines and PureStem Progenitors for PMS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

PMS1_HUMAN, P54277: Nucleus (Potential)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	3
mitochondrion	1

About this image

Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	8072530
GO:0032300	mismatch repair complex	IBA	--
GO:0032389	MutLalpha complex	IBA	--

PMS1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for PMS1 About

See pathways by source

SuperPath

Contained pathways About

Telomere C-strand (Lagging Strand) Synthesis

Mismatch Repair in Eukaryotes

0.54

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PMS1

Mismatch Repair in Eukaryotes

Pathway & Disease-focused RT² Profiler PCR Arrays including PMS1:

DNA Damage Signaling Pathway in human mouse rat

DNA Repair in human mouse rat

Interactions:

GeneGlobe Interaction Network for PMS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PMS1 (P54277³ ENSP00000406490⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 85)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MLH1	P40692³, ENSP00000231790⁴	I2D: score=4 STRING: ENSP00000231790
AKAP9	Q99996³, ENSP00000348573⁴	I2D: score=1 STRING: ENSP00000348573
BRCA2	P51587³, ENSP00000369497⁴	I2D: score=1 STRING: ENSP00000369497
BRIP1	Q9BX63³, ENSP00000259008⁴	I2D: score=1 STRING: ENSP00000259008
CCNT1	O60563³, ENSP00000261900⁴	I2D: score=1 STRING: ENSP00000261900

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Gene Ontology (GO): 4 biological process terms: 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:0042493	response to drug	IEA	--

PMS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PMS1

2 Novoseek inferred 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)

PMS1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for PMS1 gene (5 alternative transcripts):

NM_000534.4 NM_001128143.1 NM_001128144.1 NM_001289408.1 NM_001289409.1

Unigene Cluster for PMS1:

PMS1 postmeiotic segregation increased 1 (S. cerevisiae)

Hs.111749 [show with all ESTs]

Unigene Representative Sequence: NM_000534

Selected 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

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat PMS1 using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate PMS1
		SwitchGear 3'UTR luciferase reporter plasmid: PMS1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PMS1
		Predesigned siRNA for gene silencing in human, mouse, rat PMS1

Clone Products:		OriGene clones in human, mouse for PMS1 (see all 17) OriGene ORF clones in mouse, rat for PMS1 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
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Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for PMS1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PMS1
		QuantiTect SYBR Green Assays in human, mouse, rat PMS1
		QuantiFast Probe-based Assays in human, mouse, rat PMS1

Additional mRNA 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

Selected AceView cDNA sequences (see all 179):

CB157373 BI438347 BQ881144 AL043785 AI563888 BE467223 AL705101 BE217937

AL043808 BQ771615 AI693213 BM723144 BF056020 AW207251 BM800196 BE466354

BE326943 AA419336 CB161021 BM677668 BX117693 CR610658 BG827501 CB131671

GeneLoc Exon Structure

Selected 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

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PMS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GTTATTTTTT

About this image

PMS1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Testis (Reproductive System)
XY Germ Cells Testis Cord

Gonad
XY Germ Cells Testis Cord

PMS1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PMS1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.111749

Pathway & Disease-focused RT² Profiler PCR Arrays including PMS1:

DNA Damage Signaling Pathway in human mouse rat

DNA Repair in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for PMS1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PMS1
		QuantiTect SYBR Green Assays in human, mouse, rat PMS1
		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 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)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for PMS1 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pms1^{1 , 5}	postmeiotic segregation increased 1 (S. cerevisiae)^{1, 5}	82.22(n)¹ 76.01(a)¹		1 (26.99 cM)⁵ 227099¹ NM_153556.1¹ NP_705784.1¹ 53189187⁵
chicken (Gallus gallus)	Aves	PMS1¹	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	69.02(n) 59.8(a)		423980 NM_001006508.1 NP_001006508.1
lizard (Anolis carolinensis)	Reptilia	PMS1⁶	PMS1 postmeiotic segregation increased 1 (S. cerev...	52(a)	1 ↔ 1	2(134909793-134953263)
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
worm (Caenorhabditis elegans)	Secernentea	pms-2⁶	Protein PMS-2, isoform a (pms-2) mRNA, complete cd...	22(a)	1 ↔ 1	V(11566801-11573091) WBGene00004064
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	PMS1⁶	ATP-binding protein required for mismatch repair i...	20(a)	1 → many	XIV(473391-476012) YNL082W

ENSEMBL Gene Tree for PMS1 (if available)
TreeFam Gene Tree for PMS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PMS1 gene

PMS2²

12 SIMAP similar genes for PMS1 using alignment to 19 protein entries: PMS1_HUMAN (see all proteins):

DKFZp781M0253 FAM175A PMS2P3 DKFZp686J1569 PMS8 PMS2L5

PMS2P1 PMS5 MLH1 LOC389527 MLH3 HMGB1

PMS1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121434628^1,2	C	untested¹	190095292(+)	`AATCTC/TAGGTA`	5	Q *	stg¹ int¹		0	--	--	--	--
rs5742941^1,2	C,F	--	182510115(+)	`GGCTTTCTT/- GAAGA`	3	--	int¹		2		NS NA	166
rs200704397^1,2		--	182511990(+)	`TTTTT-/ATTTTT`	3	--	int¹		0	--	--	--	--
rs202170353^1,2	C	--	182533829(+)	`CATTTC/TTTTTT`	3	--	int¹		0	--	--	--	--
rs146599345^1,2	C	--	190033341(+)	`GTAGAA/GATGAG`	3	--	us2k¹		0	--	--	--	--
rs10168387^1,2	C,F,H	--	190033594(+)	`TAAACC/TTAAAA`	3	--	us2k¹		24		NS EA NA WA CSA	2003
rs145086849^1,2	F	--	190033726(+)	`TCCCAA/GTGCAT`	3	--	us2k¹		1		NA	4550
rs200911531^1,2		--	190033807(+)	`GTTCAC/TGTTTG`	3	--	us2k¹		0	--	--	--	--
rs111676905^1,2	C	--	190033818(+)	`CTCTGC/TAGGAA`	3	--	us2k¹		0	--	--	--	--
rs188877615^1,2		--	190033819(+)	`TCTGTA/GGGAAG`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PMS1 (190648811 - 190742355 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for PMS1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv213327	CNV	Loss	16902084
nsv875616	CNV	Loss	21882294
nsv875617	CNV	Loss	21882294
nsv3080	CNV	Loss	18451855

Human Gene Mutation Database (HGMD): PMS1
Locus Specific Mutation Databases (LSDB): PMS1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 600258 OMIM disorders: --

Selected diseases for PMS1 (see all 42):
About MalaCards

muir-torre syndrome peutz-jeghers syndrome colorectal cancer, hereditary nonpolyposis, type 1 familial colorectal cancer

colorectal cancer familial adenomatous polyposis polymyositis sporadic breast cancer

dermatomyositis adult t-cell leukemia squamous cell carcinoma of the head and neck ovarian cancer

retinoblastoma fanconi's anemia endometrial carcinoma malignant glioma

2 diseases from the University of Copenhagen DISEASES database for PMS1:

Lynch syndrome Colorectal cancer

PMS1 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

Selected Novoseek inferred 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)

Genetic Association Database (GAD): PMS1
Human Genome Epidemiology (HuGE) Navigator: PMS1 (19 documents)

Export disorders for PMS1 gene to outside databases

(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 10 sources (see all 167):
(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. (Nature 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. (Hum. Genet. 1999)
Common variants in mismatch repair genes and risk of colorectal cancer. (PubMed id 18364438)^{1, 4, 9} Koessler T....Pharoah P.D. (Gut 2008)
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. (PubMed id 18723338)^{1, 4, 9} Mann A....Song H. (Eur. J. Cancer 2008)
Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PubMed id 16774946)^{1, 4, 9} Song H....Gayther S.A. (Carcinogenesis 2006)
Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer. (PubMed id 19115210)^{1, 4, 9} Koessler T....Pharoah P.D. (Int. J. Cancer 2009)
Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)^{1, 4} Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. (PubMed id 20414254)^{1, 4} Hong K.W....Oh B. (J. Hum. Genet. 2010)
Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)^{1, 4} Guey L.T....Malats N. (Eur. Urol. 2010)
PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)^{1, 4} Hosgood H.D....Lan Q. (Respir Med 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5378	HGNC: 9121	AceView: PMS1	Ensembl:ENSG00000064933	euGenes: HUgn5378
ECgene: PMS1	H-InvDB: PMS1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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/

Intellectual Property for PMS1 gene
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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

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PMS1 Gene

PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae)

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PMS1 Gene

PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae)

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