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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:111057296-111100854 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 60.92 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1223 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 Chr9:111057296-111100859 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MLH1, mutL homolog 1
  • Synonyms
    COCA2, FCC2, hMLH1, HNPCC, HNPCC2, LYNCH2, MLH-1, MMRCS1
  • Links
    NCBI Gene ID: 4292
    neXtProt AC: NX_P40692
    UniProt: P40692

  • Chr Location
    3p22.2; chr3:36993226-37050896 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mlh1 mouse models; 8 with human MLH1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    41 phenotypes from 8 alleles in 12 genetic backgrounds
    19 phenotypes from multigenic genotypes
    1 images
    108 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
less
  • All GO Annotations
    67
  • GO References
    57
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
less
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
    855
  • Tissues
    118
  • cDNA Data
    56
  • Literature Summary
    55
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    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
      (term hierarchy)
    • InterPro Domains
      IPR014762 DNA mismatch repair, conserved site
      IPR032189 DNA mismatch repair protein Mlh1, C-terminal
      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
      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
    • GlyGen
      Q9JK91 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 57
      cDNA 56
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-18771, MGI:1915937, MGI:2143018, MGI:2143023, MGI:2143094
    References
    more
    • Summaries
      All 222
      Developmental Gene Expression 55
      Diseases 1
      Gene Ontology 57
      Phenotypes 108
    • 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:347775 Yoshimura S, et al., Atypical heat shock transcription factor HSF5 is critical for male meiotic prophase under non-stress conditions. Nat Commun. 2024 Apr 29;15(1):3330
    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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    12/10/2024
    MGI 6.24     		The Jackson Laboratory