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Mlh1 Gene Detail
Summary
  • Symbol
    Mlh1
  • Name
    mutL homolog 1
  • Synonyms
    1110035C23Rik, colon cancer, nonpolyposis type 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:101938
    NCBI Gene: 17350
  • Gene Overview
    MyGene.info: MLH1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:111228228-111271786 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 60.92 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    406 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101938
protein coding gene Chr9:111228228-111271791 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035371
protein coding gene Chr9:113454018-113504544 (-)
A/J MGP_AJ_G0035352
protein coding gene Chr9:109305323-109347768 (-)
AKR/J MGP_AKRJ_G0035283
protein coding gene Chr9:112030117-112076951 (-)
BALB/cJ MGP_BALBcJ_G0035347
protein coding gene Chr9:109053284-109096942 (-)
C3H/HeJ MGP_C3HHeJ_G0035055
protein coding gene Chr9:112530439-112575570 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035869
protein coding gene Chr9:116570443-116613864 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032755
protein coding gene Chr9:106504461-106550532 (-)
CAST/EiJ MGP_CASTEiJ_G0034361
protein coding gene Chr9:112330734-112374712 (-)
CBA/J MGP_CBAJ_G0035022
protein coding gene Chr9:120874846-120921080 (-)
DBA/2J MGP_DBA2J_G0035181
protein coding gene Chr9:108753444-108796078 (-)
FVB/NJ MGP_FVBNJ_G0035128
protein coding gene Chr9:107594181-107636859 (-)
LP/J MGP_LPJ_G0035260
protein coding gene Chr9:113732418-113774669 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035168
protein coding gene Chr9:122168224-122213272 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035889
protein coding gene Chr9:112382609-112425711 (-)
PWK/PhJ MGP_PWKPhJ_G0034068
protein coding gene Chr9:109006746-109050317 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033903
protein coding gene Chr9:112473423-112517260 (-)
WSB/EiJ MGP_WSBEiJ_G0034482
protein coding gene Chr9:112239271-112285719 (-)



Homology
more
  • Human Ortholog
    MLH1, mutL homolog 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MLH1, mutL homolog 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    COCA2, FCC2, hMLH1, HNPCC, HNPCC2
  • Links
    NCBI Gene ID: 4292
    neXtProt AC: NX_P40692
    UniProt: P40692

  • Chr Location
    3p22.2; chr3:36993350-37050846 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Mlh1 mouse models; 1 with human MLH1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 8 alleles in 12 genetic backgrounds
    18 phenotypes from multigenic genotypes
    1 images
    83 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 targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors.
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 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 17350 NCBI Gene Model | MGI Sequence Detail 43559 C57BL/6J ±  kb
    transcript NM_026810 RefSeq | MGI Sequence Detail 2598 C57BL/6  
    polypeptide Q9JK91 UniProt | EBI | MGI Sequence Detail 760 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000010442 DNA mismatch repair protein Mlh1
    • InterPro Domains
      IPR014762 DNA mismatch repair, conserved site
      IPR002099 DNA mismatch repair protein family, N-terminal
      IPR011186 DNA mismatch repair protein Mlh1
      IPR032189 DNA mismatch repair protein Mlh1, C-terminal
      IPR038973 DNA mismatch repair protein MutL/Mlh/Pms
      IPR013507 DNA mismatch repair protein, S5 domain 2-like
      IPR003594 Histidine kinase/HSP90-like ATPase
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR020568 Ribosomal protein S5 domain 2-type fold
      IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
    Molecular
    Reagents
    less
    • All nucleic 58
      cDNA 56
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-18771, MGI:1915937, MGI:2143018, MGI:2143023, MGI:2143094
    References
    more
    • Summaries
      All 172
      Developmental Gene Expression 30
      Diseases 1
      Gene Ontology 55
      Phenotypes 83
    • Earliest
      J:17196 Bronner CE, et al., Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994 Mar 17;368(6468):258-61
    • Latest
      J:263620 Zhou Z, et al., Pold3 is required for genomic stability and telomere integrity in embryonic stem cells and meiosis. Nucleic Acids Res. 2018 Apr 20;46(7):3468-3486

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory