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PMS1 Gene(Protein Coding)

PMS1 Homolog 1, Mismatch Repair System Component

GCID:
GC02P189784
GIFtS:
48
Genes Participants
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Aliases for PMS1 Gene

Aliases for PMS1 Gene

  • PMS1 Homolog 1, Mismatch Repair System Component 2 3 5
  • DNA Mismatch Repair Protein PMS1 3 4
  • PMSL1 3 4
  • PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae) 2
  • Postmeiotic Segregation Increased (S. Cerevisiae) 1 2
  • PMS1 Postmeiotic Segregation Increased 1 3
  • Rhabdomyosarcoma Antigen MU-RMS-40.10B 3
  • Rhabdomyosarcoma Antigen MU-RMS-40.10E 3
  • Human Homolog Of Yeast MutL 3
  • Mismatch Repair Gene PMSL1 3
  • PMS1 Protein Homolog 1 3
  • HNPCC3 3
  • HPMS1 3
  • MLH2 3

External Ids for PMS1 Gene

Previous HGNC Symbols for PMS1 Gene

  • PMSL1

Previous GeneCards Identifiers for PMS1 Gene

  • GC02P188823
  • GC02P189331
  • GC02P190612
  • GC02P190851
  • GC02P190474
  • GC02P190357
  • GC02P190648
  • GC02P182508

Summaries for PMS1 Gene

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 Homolog 1, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS1 include Lynch Syndrome I and Lynch Syndrome. Among its related pathways are Mismatch repair. Gene Ontology (GO) annotations related to this gene include ATPase activity and mismatched DNA binding. An important paralog of this gene is PMS2.

UniProtKB/Swiss-Prot for PMS1 Gene

  • Probably involved in the repair of mismatches in DNA.

Gene Wiki entry for PMS1 Gene

Additional gene information for PMS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMS1 Gene

Genomics for PMS1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PMS1 Gene

Promoters and enhancers for PMS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I189782 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 572.4 -0.1 -59 3.6 HDGF PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ORMDL1 PMS1 ANKAR HNRNPCP2 OSGEPL1-AS1 OSGEPL1 WDR75 NEMP2 ASNSD1 ENSG00000273240
GH02I190179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.1 +398.6 398568 6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 E2F8 C2orf88 WDR75 PMS1 ANKAR ORMDL1 NEMP2 LOC105373794 GC02M190201
GH02I189440 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.2 -342.7 -342656 2.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B WDR75 LOC101927252 ORMDL1 HNRNPCP2 ANKAR PMS1 COL5A2 LOC100420666
GH02I190318 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 +535.6 535587 2.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 HIBCH NEMP2 ORMDL1 WDR75 ANKAR PMS1 INPP1 GC02M190201
GH02I190214 Enhancer 0.9 Ensembl ENCODE 10.9 +432.0 431954 3.3 SMAD1 NFIA NFIB ZNF491 ZIC2 NFIC ZNF766 LCORL ZBTB48 IKZF1 WDR75 C2orf88 HIBCH ANKAR PMS1 OSGEPL1 NAB1 GC02M190201 LOC105373794
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PMS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMS1 gene promoter:

Genomic Locations for PMS1 Gene

Genomic Locations for PMS1 Gene
chr2:189,784,085-189,877,629
(GRCh38/hg38)
Size:
93,545 bases
Orientation:
Plus strand
chr2:190,648,811-190,742,355
(GRCh37/hg19)

Genomic View for PMS1 Gene

Genes around PMS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PMS1 Gene

Proteins for PMS1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PMS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54277-PMS1_HUMAN
    Recommended name:
    PMS1 protein homolog 1
    Protein Accession:
    P54277
    Secondary Accessions:
    • D3DPI1
    • Q4VAL4
    • Q5FBZ3
    • Q5FBZ6
    • Q5FBZ8

    Protein attributes for PMS1 Gene

    Size:
    932 amino acids
    Molecular mass:
    105830 Da
    Quaternary structure:
    • The MutL-beta complex is a heterodimer of PMS1 and MLH1.

    Three dimensional structures from OCA and Proteopedia for PMS1 Gene

    Alternative splice isoforms for PMS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMS1 Gene

Protein Expression for PMS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PMS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PMS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PMS1 Gene

Domains & Families for PMS1 Gene

Gene Families for PMS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for PMS1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PMS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54277

UniProtKB/Swiss-Prot:

PMS1_HUMAN :
  • Belongs to the DNA mismatch repair MutL/HexB family.
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with PMS1: view

Function for PMS1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PMS1 Gene

GENATLAS Biochemistry:
postmeiotic segregation increased (S cerevisiae) 1, yeast mutator gene homolog (bacterial mutL) heterodimerizing with MLH1,involved in mismatch repair
UniProtKB/Swiss-Prot Function:
Probably involved in the repair of mismatches in DNA.

Phenotypes From GWAS Catalog for PMS1 Gene

Gene Ontology (GO) - Molecular Function for PMS1 Gene

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 --
genes like me logo Genes that share ontologies with PMS1: view
genes like me logo Genes that share phenotypes with PMS1: view

Human Phenotype Ontology for PMS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PMS1 Gene

MGI Knock Outs for PMS1:

Animal Model Products

miRNA for PMS1 Gene

miRTarBase miRNAs that target PMS1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PMS1 Gene

Localization for PMS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMS1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMS1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IEA 8072530
GO:0032389 MutLalpha complex IBA --
genes like me logo Genes that share ontologies with PMS1: view

Pathways & Interactions for PMS1 Gene

SuperPathways for PMS1 Gene

PathCards logo More details on SuperPathways for PMS1
SuperPathway Contained pathways
1 Mismatch repair
Mismatch Repair in Eukaryotes
.54
genes like me logo Genes that share pathways with PMS1: view

Pathways by source for PMS1 Gene

1 Qiagen pathway for PMS1 Gene

Gene Ontology (GO) - Biological Process for PMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006298 mismatch repair IBA,IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with PMS1: view

No data available for SIGNOR curated interactions for PMS1 Gene

Drugs & Compounds for PMS1 Gene

Products:

  1. Drug

(2) Additional Compounds for PMS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PMS1: view

Transcripts for PMS1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PMS1 Gene

(22) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(179) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PMS1 Gene

PMS1 postmeiotic segregation increased 1 (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMS1 Gene

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: - - - - - - -
SP6: - -
SP7: - - - - -
SP8: - -
SP9:
SP10: -
SP11: -
SP12: -
SP13:
SP14:
SP15: - - -
SP16: -
SP17:
SP18:
SP19: - -

ExUns: 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b · 19c · 19d ^ 20a · 20b · 20c · 20d
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: - -
SP5: - - - - -
SP6: - - -
SP7: - - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14: - -
SP15:
SP16: -
SP17: - -
SP18:
SP19: - - - - - -

Relevant External Links for PMS1 Gene

GeneLoc Exon Structure for
PMS1
ECgene alternative splicing isoforms for
PMS1

Expression for PMS1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMS1 Gene

mRNA expression in normal human tissues for PMS1 Gene
mRNA expression by BioGPS for PMS1 GenemRNA expression by GTEx for PMS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PMS1 Gene

This gene is overexpressed in Testis (57.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PMS1 Gene



Protein tissue co-expression partners for PMS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PMS1 Gene:

PMS1

SOURCE GeneReport for Unigene cluster for PMS1 Gene:

Hs.111749

Evidence on tissue expression from TISSUES for PMS1 Gene

  • Gall bladder(4.2)
  • Nervous system(3.7)
  • Intestine(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PMS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • urinary
Regions:
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • rectum
  • uterus
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with PMS1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PMS1 Gene

Orthologs for PMS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PMS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PMS1 33 34
  • 99.79 (n)
dog
(Canis familiaris)
 Mammalia PMS1 33 34
  • 88.89 (n)
cow
(Bos Taurus)
 Mammalia PMS1 33 34
  • 88.26 (n)
mouse
(Mus musculus)
 Mammalia Pms1 33 16 34
  • 82.22 (n)
rat
(Rattus norvegicus)
 Mammalia Pms1 33
  • 81.5 (n)
oppossum
(Monodelphis domestica)
 Mammalia PMS1 34
  • 71 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PMS1 34
  • 44 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PMS1 33 34
  • 69.02 (n)
lizard
(Anolis carolinensis)
 Reptilia PMS1 34
  • 52 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pms1 33
  • 59.17 (n)
Str.3995 33
African clawed frog
(Xenopus laevis)
 Amphibia MGC52779 33
zebrafish
(Danio rerio)
 Actinopterygii pms1 33 34
  • 54.72 (n)
worm
(Caenorhabditis elegans)
 Secernentea pms-2 34
  • 22 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PMS1 34
  • 20 (a)
 OneToMany
Species where no ortholog for PMS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PMS1 Gene

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

Paralogs for PMS1 Gene

Variants for PMS1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PMS1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1145231 not-provided, likely-benign, not specified, Lynch syndrome 189,854,453(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1145232 not-provided, likely-benign, not specified, Lynch syndrome 189,854,773(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1145234 not-provided, likely-benign, not specified, Lynch syndrome 189,867,833(+) T/C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs143323454 uncertain-significance, Lynch syndrome 189,795,810(+) G/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs147002700 uncertain-significance, Lynch syndrome 189,784,458(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PMS1 Gene

Variant ID Type Subtype PubMed ID
esv3584245 CNV loss 25503493
nsv213327 CNV deletion 16902084
nsv3080 CNV deletion 18451855
nsv472452 CNV novel sequence insertion 20440878
nsv584063 CNV loss 21841781

Variation tolerance for PMS1 Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.09; 60.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMS1 Gene

Human Gene Mutation Database (HGMD)
PMS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMS1 Gene

Disorders for PMS1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PMS1 Gene - From: HGMD, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lynch syndrome i
  • colorectal cancer, hereditary nonpolyposis, type 1; hnpcc1
lynch syndrome
  • coca 1
cervical adenoma malignum
  • cervical mucinous adenocarcinoma, minimal deviation variant
cervical mucinous adenocarcinoma
cecal benign neoplasm
  • cecum neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search PMS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PMS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PMS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMS1 Gene

Publications for PMS1 Gene

  1. Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer. (PMID: 19115210) Koessler T … Pharoah PD (International journal of cancer 2009) 3 22 44 58
  2. Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H … Gayther SA (Carcinogenesis 2006) 3 22 44 58
  3. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. (PMID: 10480359) Wang Q … Puisieux A (Human genetics 1999) 3 4 22 58
  4. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. (PMID: 8072530) Nicolaides NC … Fraser CM (Nature 1994) 2 3 4 58
  5. The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma. (PMID: 23608172) Wang Y … Gao Z (Gene 2013) 2 3 58

Products for PMS1 Gene

Sources for PMS1 Gene

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