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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:53228346-53336177 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 26.99 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    3356 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1202302
 protein coding gene Chr1:53225794-53336190 (-)
129S1/SvImJ ENSMUSG00200018411
 protein coding gene Chr1:50703429-50811285 (-)
A/J ENSMUSG00195029078
 protein coding gene Chr1:50603066-50710936 (-)
AKR/J ENSMUSG00220003251
 protein coding gene Chr1:50356488-50462210 (-)
BALB/cJ ENSMUSG00180013170
 protein coding gene Chr1:50532125-50637840 (-)
C3H/HeJ ENSMUSG00175001051
 protein coding gene Chr1:50629242-50737099 (-)
C57BL/6NJ ENSMUSG00215015305
 protein coding gene Chr1:50556691-50664545 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014118
 protein coding gene Chr1:40839190-40943592 (+)
CAST/EiJ ENSTCUG00005000779
 protein coding gene Chr1:50443551-50556108 (-)
CBA/J ENSMUSG00210028872
 protein coding gene Chr1:50334594-50442449 (-)
DBA/2J ENSMUSG00185038175
 protein coding gene Chr1:51454207-51562063 (-)
FVB/NJ ENSMUSG00205003200
 protein coding gene Chr1:50294605-50402461 (-)
JF1/MsJ ENSUMUG00000000943
 protein coding gene Chr1:50409148-50515748 (-)
LP/J ENSMUSG00230027998
 protein coding gene Chr1:51450409-51558261 (-)
NOD/ShiLtJ ENSMUSG00190036998
 protein coding gene Chr1:50471170-50579001 (-)
NZO/HlLtJ ENSMUSG00225008817
 protein coding gene Chr1:54638888-54754233 (-)
PWK/PhJ ENSLUMG00010002288
 protein coding gene Chr1:49964093-50071916 (-)
SPRET/EiJ ENSMSPG00010021421
 protein coding gene Chr1:51700906-51808738 (-)
WSB/EiJ ENSIUOG00005003485
 protein coding gene Chr1:50161659-50267529 (-)



Homology
more
  • Human Ortholog
    PMS1, PMS1 homolog 1, mismatch repair system component
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PMS1, PMS1 homolog 1, mismatch repair system component
  • Synonyms
    HNPCC3, hPMS1, MLH2, PMSL1
  • Links
    NCBI Gene ID: 5378
    UniProt: P54277

  • Chr Location
    2q32.2; chr2:189784085-189878385 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human PMS1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
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
    19 phenotype references
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
    15
  • GO References
    6
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    735
  • Tissues
    89
  • cDNA Data
    25
  • Literature Summary
    6
Sequences &
Gene Models
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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
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  • UniProt
    8 Sequences
  • InterPro Domains
    IPR014762 DNA mismatch repair, conserved site
    IPR002099 DNA mismatch repair protein MutL/Mlh/PMS
    IPR038973 DNA mismatch repair protein MutL/Mlh/Pms-like
    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
    IPR020568 Ribosomal protein uS5 domain 2-type superfamily
    IPR014721 Small ribosomal subunit protein uS5 domain 2-type fold, subgroup
Molecular
Reagents
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  • All nucleic 29
    Genomic 1
    cDNA 27
    Primer pair 1

    Microarray probesets 2
References
more
  • Summaries
    All 51
    Developmental Gene Expression 6
    Gene Ontology 6
    Phenotypes 19
  • 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:361636 Wang N, et al., Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD mice. Cell. 2025 Feb 8;
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory