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Pms1 Gene Detail
Summary
  • Symbol
    Pms1
  • Name
    PMS1 homolog 1, mismatch repair system component
  • Synonyms
    MGC:36491
  • Feature Type
    protein coding gene
  • IDs
    MGI:1202302
    NCBI Gene: 227099
  • Gene Overview
    MyGene.info: PMS1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:53189187-53297018 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 26.99 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    721 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1202302
protein coding gene Chr1:53189187-53297028 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016016
protein coding gene Chr1:52720138-52840595 (-)
A/J MGP_AJ_G0015998
protein coding gene Chr1:50949308-51059711 (-)
AKR/J MGP_AKRJ_G0015954
protein coding gene Chr1:52050980-52169360 (-)
BALB/cJ MGP_BALBcJ_G0015955
protein coding gene Chr1:50774943-50877291 (-)
C3H/HeJ MGP_C3HHeJ_G0015787
protein coding gene Chr1:52425320-52547674 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016406
protein coding gene Chr1:54915147-55018129 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014118
protein coding gene Chr1:40839190-40943592 (+)
CAST/EiJ MGP_CASTEiJ_G0015368
protein coding gene Chr1:51932137-52036067 (-)
CBA/J MGP_CBAJ_G0015758
protein coding gene Chr1:56395698-56525646 (-)
DBA/2J MGP_DBA2J_G0015859
protein coding gene Chr1:50214673-50326368 (-)
FVB/NJ MGP_FVBNJ_G0015861
protein coding gene Chr1:49680105-49783417 (-)
LP/J MGP_LPJ_G0015930
protein coding gene Chr1:53148405-53263290 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015881
protein coding gene Chr1:59476405-59595934 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016454
protein coding gene Chr1:52157462-52276388 (-)
PWK/PhJ MGP_PWKPhJ_G0015154
protein coding gene Chr1:50054586-50164097 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014934
protein coding gene Chr1:51824590-51944557 (-)
WSB/EiJ MGP_WSBEiJ_G0015431
protein coding gene Chr1:51979559-52087452 (-)



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, HGNC
  • Synonyms
    HNPCC3, hPMS1, MLH2, PMSL1
  • Links
    NCBI Gene ID: 5378
    neXtProt AC: NX_P54277
    UniProt: P54277

  • Chr Location
    2q32.2; chr2:189784085-189877629 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 449
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PMS1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PMS1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 2 alleles in 2 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026098 Ensembl Gene Model | MGI Sequence Detail 107832 C57BL/6J ±  kb
    transcript ENSMUST00000027267 Ensembl | MGI Sequence Detail 3054 Not Applicable  
    polypeptide ENSMUSP00000027267 Ensembl | MGI Sequence Detail 917 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • InterPro Domains
      IPR014762 DNA mismatch repair, conserved site
      IPR002099 DNA mismatch repair protein family, N-terminal
      IPR038973 DNA mismatch repair protein MutL/Mlh/Pms
      IPR013507 DNA mismatch repair protein, S5 domain 2-like
      IPR009071 High mobility group box domain
      IPR036910 High mobility group box domain superfamily
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR031263 PMS1 protein homologue 1
      IPR020568 Ribosomal protein S5 domain 2-type fold
      IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 1
      cDNA 27
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 5
      Gene Ontology 3
      Phenotypes 16
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:240174 Duroc Y, et al., Concerted action of the MutLbeta heterodimer and Mer3 helicase regulates the global extent of meiotic gene conversion. Elife. 2017 Jan 04;6

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    Funding Information
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    last database update
    10/08/2019
    MGI 6.14
    The Jackson Laboratory