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Aliases for PMS1 Gene

Aliases for PMS1 Gene

  • PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae) 2 3
  • PMSL1 3 4 6
  • DNA Mismatch Repair Protein PMS1 3 4
  • HNPCC3 3 6
  • Postmeiotic Segregation Increased (S. Cerevisiae) 1 2
  • 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
  • HPMS1 3

External Ids for PMS1 Gene

Previous Symbols for PMS1 Gene

  • PMSL1

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 Postmeiotic Segregation Increased 1 (S. Cerevisiae)) is a Protein Coding gene. Diseases associated with PMS1 include pms1-related lynch syndrome and colorectal cancer. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis. 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

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

Genomics for PMS1 Gene

Genomic Location for PMS1 Gene

Start:
189,784,085 bp from pter
End:
189,877,629 bp from pter
Size:
93,545 bases
Orientation:
Plus strand

Genomic View for PMS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PMS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMS1 Gene

Regulatory Elements for PMS1 Gene

Proteins for PMS1 Gene

  • 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

Proteomics data for PMS1 Gene at MOPED

Post-translational modifications for PMS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PMS1 Gene

Domains for PMS1 Gene

UniProtKB/Swiss-Prot:

PMS1_HUMAN
Domain:
  • Contains 1 HMG box DNA-binding domain.:
    • P54277
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.:
    • P54277
genes like me logo Genes that share domains with PMS1: view

No data available for Gene Families for PMS1 Gene

Function for PMS1 Gene

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.

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

Phenotypes for PMS1 Gene

MGI mutant phenotypes for PMS1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with PMS1: view

Animal Models for PMS1 Gene

MGI Knock Outs for PMS1:

miRNA for PMS1 Gene

miRTarBase miRNAs that target PMS1

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

Localization for PMS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PMS1 Gene COMPARTMENTS Subcellular localization image for PMS1 gene
Compartment Confidence
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PMS1 Gene

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

Pathways for PMS1 Gene

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:0006200 obsolete ATP catabolic process --
GO:0006298 mismatch repair IBA --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with PMS1: view

Compounds for PMS1 Gene

(2) Novoseek inferred chemical compound relationships for PMS1 Gene

Compound -log(P) Hits PubMed IDs
mhs-2 87.9 2
5-aza-2deoxycytidine 39.1 2
genes like me logo Genes that share compounds with PMS1: view

Transcripts for PMS1 Gene

Unigene Clusters for PMS1 Gene

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

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

mRNA expression in normal human tissues for PMS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PMS1 Gene

SOURCE GeneReport for Unigene cluster for PMS1 Gene Hs.111749

genes like me logo Genes that share expressions with PMS1: view

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 36
  • 99.79 (n)
  • 99.57 (a)
PMS1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PMS1 36
  • 88.26 (n)
  • 83.46 (a)
PMS1 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PMS1 36
  • 88.89 (n)
  • 83.87 (a)
PMS1 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pms1 36
  • 82.22 (n)
  • 76.01 (a)
Pms1 16
Pms1 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PMS1 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PMS1 37
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pms1 36
  • 81.5 (n)
  • 74.76 (a)
chicken
(Gallus gallus)
Aves PMS1 36
  • 69.02 (n)
  • 59.8 (a)
PMS1 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMS1 37
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52779 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pms1 36
  • 59.17 (n)
  • 50.44 (a)
Str.3995 36
zebrafish
(Danio rerio)
Actinopterygii pms1 36
  • 54.72 (n)
  • 49.2 (a)
pms1 37
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pms-2 37
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMS1 37
  • 20 (a)
OneToMany
Species with no ortholog for PMS1:
  • 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

Paralogs for PMS1 Gene

genes like me logo Genes that share paralogs with PMS1: view

Variants for PMS1 Gene

Sequence variations from dbSNP and Humsavar for PMS1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs256553 -- 189,875,589(+) ATAGT(C/G)AATAG intron-variant
rs256554 -- 189,874,288(+) TTAAA(A/C)TAATG intron-variant
rs256555 -- 189,874,082(+) TATGT(A/G)TTTGC intron-variant
rs256556 -- 189,872,118(+) aacat(G/T)agatt intron-variant
rs256557 -- 189,871,477(+) gcggg(G/T)acata intron-variant

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

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

Relevant External Links for PMS1 Gene

HapMap Linkage Disequilibrium report
PMS1
Human Gene Mutation Database (HGMD)
PMS1
Locus Specific Mutation Databases (LSDB)
PMS1

Disorders for PMS1 Gene

(2) University of Copenhagen DISEASES for PMS1 Gene

(31) Novoseek inferred disease relationships for PMS1 Gene

Disease -log(P) Hits PubMed IDs
microsatellite instability 86.8 8
hereditary nonpolyposis colon cancer 82.6 3
colorectal cancer 80.6 52
lynch syndrome 80.2 2
germ-line mutation 76.8 5

Relevant External Links for PMS1

Genetic Association Database (GAD)
PMS1
Human Genome Epidemiology (HuGE) Navigator
PMS1
genes like me logo Genes that share disorders with PMS1: view

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

Publications for PMS1 Gene

  1. 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. (Hum. Genet. 1999) 3 4 23
  2. Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H. … Gayther S.A. (Carcinogenesis 2006) 3 23 49
  3. Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. (PMID: 18723338) Mann A. … Song H. (Eur. J. Cancer 2008) 3 23 49
  4. Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer. (PMID: 19115210) Koessler T. … Pharoah P.D. (Int. J. Cancer 2009) 3 23 49
  5. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. (PMID: 8072530) Nicolaides N.C. … Kinzler K.W. (Nature 1994) 2 3 4

Products for PMS1 Gene

Sources for PMS1 Gene

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