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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
Location & Maps
more
  • Sequence Map
    Chr9:111228228-111271791 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      43564 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 60.92 cM
  • Mapping Data
    2 experiments
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; 2 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
    35 phenotypes from 5 alleles in 9 genetic backgrounds
    18 phenotypes from multigenic genotypes
    1 images
    79 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000031784 VEGA Gene Model | MGI Sequence Detail 43564 C57BL/6J ±  kb
    transcript OTTMUST00000078764 VEGA | MGI Sequence Detail 2754 Not Applicable  
    polypeptide OTTMUSP00000041918 VEGA | MGI Sequence Detail 760 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      406 from dbSNP Build 142
    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
      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 57
      cDNA 55
      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 164
      Developmental Gene Expression 28
      Diseases 1
      Gene Ontology 53
      Phenotypes 79
    • 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:243570 Liu KH, et al., The impact of Zearalenone on the meiotic progression and primordial follicle assembly during early oogenesis. Toxicol Appl Pharmacol. 2017 Aug 15;329:9-17

    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
    05/08/2018
    MGI 6.12
    The Jackson Laboratory