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Pms1 Gene Detail
Summary
  • Symbol
    Pms1
  • Name
    postmeiotic segregation increased 1 (S. cerevisiae)
  • Synonyms
    MGC:36491
  • Feature Type
    protein coding gene
  • IDs
    MGI:1202302
    NCBI Gene: 227099
  • Gene Overview
    MyGene.info: PMS1
Location & Maps
more
  • Sequence Map
    Chr1:53189187-53297018 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      107832 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PMS1, PMS1 homolog 1, mismatch repair system component
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PMS1, PMS1 homolog 1, mismatch repair system component
    Orthology source: HomoloGene
  • Synonyms
    HNPCC3, hPMS1, MLH2, PMSL1
  • Links
    NCBI Gene ID: 5378
    neXtProt AC: NX_P54277

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

  • HomoloGene
    Vertebrate Homology Class 449
    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
Human Diseases
more
  • Diseases
    1 with human PMS1 associations

Human Disease Mouse Models
       Lynch Syndrome I   OMIM: 120435
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    14 phenotype references
  • All Mutations and Alleles
    22
  • Chemically induced (other)
    1
  • Gene trapped
    14
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Pms1
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    721 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • InterPro Domains
    IPR014762 DNA mismatch repair, conserved site
    IPR013507 DNA mismatch repair protein, C-terminal
    IPR002099 DNA mismatch repair protein family
    IPR009071 High mobility group box domain
    IPR003594 Histidine kinase-like ATPase, C-terminal domain
    IPR020568 Ribosomal protein S5 domain 2-type fold
    IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
Molecular
Reagents
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  • All nucleic 28
    Genomic 1
    cDNA 26
    Primer pair 1

    Microarray probesets 2
References
more
  • Summaries
    All 33
    Developmental Gene Expression 4
    Gene Ontology 2
    Phenotypes 14
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory