About   Help   FAQ
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 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pms1

Human
homologs
Human Homolog PMS1, PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
NCBI Gene ID 5378
neXtProt AC  NX_P54277
Human Synonyms  HNPCC3, hPMS1, PMSL1
Human Chr (Location)  2q31.1; chr2:189784085-189877629 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PMS1
Alleles
and
phenotypes
All alleles(19) : Targeted(5) Gene trapped(14)
 
Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions.
 
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process ATP catabolic process, mismatch repair, ...
Component mismatch repair complex, MutLalpha complex
Function ATPase activity, MutSalpha complex binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (92)    Tissues (69)    Images (6)
Theiler Stages: 2, 3, 4, 5, 17, 18, 21, 23, 28
Assay TypeResults
RNA in situ 69
Northern blot 8
RT-PCR 15
cDNA source data(24)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(28) Genomic(1) cDNA(26) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000021891 (Evidence)
Ensembl Gene ModelENSMUSG00000026098 (Evidence)
Entrez Gene227099 (Evidence)
UniGene60499
DFCITC1580834, TC1592593, TC1670798
DoTSDT.55173793, DT.94171923, DT.97369405, DT.99841009
NIA Mouse Gene IndexU021322
Consensus CDS ProjectCCDS14951.1
International Mouse Knockout Project StatusPms1
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(64) 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(37)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/08/2014
MGI 5.17
The Jackson Laboratory