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Pms1
Gene Detail
Symbol

Name
ID
Pms1
postmeiotic segregation increased 1 (S. cerevisiae)
MGI:1202302
Synonyms
MGC:36491
Feature Type
protein coding gene
Genetic Map
Chromosome 1
26.99 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr1:53189187-53297018 bp, - strand
From VEGA annotation of GRCm38

  107832 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:449  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PMS1
Gene Tree: Pms1

Human
homologs
PMS1, PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5378
neXtProt AC: NX_P54277

Human Synonyms: HNPCC3, hPMS1, PMSL1

Human Chr (Location): 2q31.1; chr2:189784085-189877629 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PMS1

Mutations,
alleles, and
phenotypes
All mutations/alleles(19) : Gene trapped(14) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions.
 
Interactions
Pms1 interacts with 79 markers (Mir16-1, Mir17, Mir20b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process mismatch repair
Component MutLalpha complex
Function ATPase activity, single-stranded DNA binding
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (85)    Tissues (64)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 69
Northern blot 8
RT-PCR 8
cDNA source data(24)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA PMS1 ; Xenbase pms1 ; ZFIN pms1    NEW 
Molecular
reagents
All nucleic(28) Genomic(1) cDNA(26) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000021891 (Evidence)
Ensembl Gene Model ENSMUSG00000026098 (Evidence)
Entrez Gene 227099 (Evidence)
UniGene 60499
DFCI TC1670798, TC1592593, TC1580834
DoTS DT.55173793, DT.94171923, DT.99841009, DT.97369405
NIA Mouse Gene Index U021322
Consensus CDS Project CCDS14951.1
International Mouse Phenotyping Consortium Status Pms1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021891 VEGA Gene Model | MGI Sequence Detail 107832 C57BL/6J ±  kb
transcript OTTMUST00000051984 VEGA | MGI Sequence Detail 3054 Not Applicable 
polypeptide OTTMUSP00000024549 VEGA | MGI Sequence Detail 917 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(16) UniProt(7)
Polymorphisms
SNPs within 2kb(756 from dbSNP Build 137)    SNPs within 2kb including multiple locations(816)
Protein-related
information
ResourceIDDescription
InterPro IPR014762 DNA mismatch repair, conserved site
InterPro IPR002099 DNA mismatch repair protein
InterPro IPR013507 DNA mismatch repair protein, C-terminal
InterPro IPR009071 High mobility group (HMG) box domain
InterPro IPR003594 Histidine kinase-like ATPase, ATP-binding domain
InterPro IPR020568 Ribosomal protein S5 domain 2-type fold
InterPro IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
Protein Ontology PR:000012913 PMS1 protein homolog 1
References
(Earliest) J:46382 Prolla TA, et al., Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. Nat Genet. 1998 Mar;18(3):276-9
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(36)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory