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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
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

  • Chr Location
    3p21.3; chr3:36993350-37050846 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Mlh1 mouse models; 3 with human MLH1 associations

Human Disease Mouse Models
       Colorectal Cancer, Hereditary Nonpolyposis, Type 2; HNPCC2   OMIM: 609310 View 2 models
       Mismatch Repair Cancer Syndrome; MMRCS   OMIM: 276300
Muir-Torre Syndrome; MRTES   OMIM: 158320
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
    36 phenotypes from 5 alleles in 9 genetic backgrounds
    18 phenotypes from multigenic genotypes
    1 images
    77 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
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 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
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  • SNPs within 2kb
    406 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000010442 DNA mismatch repair protein Mlh1
  • InterPro Domains
    IPR014762 DNA mismatch repair, conserved site
    IPR013507 DNA mismatch repair protein, C-terminal
    IPR002099 DNA mismatch repair protein family
    IPR032189 DNA mismatch repair protein Mlh1, C-terminal
    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 55
    cDNA 54
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-18771, MGI:1915937, MGI:2143018, MGI:2143023, MGI:2143094
References
more
  • Summaries
    All 154
    Developmental Gene Expression 26
    Diseases 1
    Gene Ontology 51
    Phenotypes 77
  • 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:225041 Hasegawa K, et al., SCML2 establishes the male germline epigenome through regulation of histone H2A ubiquitination. Dev Cell. 2015 Mar 9;32(5):574-88

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
09/20/2016
MGI 6.05
The Jackson Laboratory