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FLASH GENE
Symbol MLH1 contributors: mct - updated : 15-09-2016
HGNC name mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
HGNC id 7127
RNA
TRANSCRIPTS type messenger
text several spliced isoforms expressed in monocytes, normal colon mucosa (PMID: 10573010)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 2662 84.5 756 - 2009 19075283
19 - 2473 - 658 - -
19 - 2473 - 515 - -
18 - 2386 - 515 - -
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveesophagus   highly
Endocrineneuroendocrinepituitary  highly
 thyroid    
Lymphoid/Immunetonsils   highly
Reproductivefemale systembreastmammary gland highly
 male systemtestis   
 male systemprostate   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialabsorptive excretorydigestive epithelium  
Epithelialbarrier/lininguroepithelium  
Epithelialsecretoryglandularexocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • region of homology with other MutS or MutL homologs, comprising a region of 150 aminoacids
  • a putative helix-turn-helix domain associated with an adenine nucleotide and magnesium binding site
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast mutator gene (bacterial mutL)
    Homologene
    FAMILY
  • DNA mismatch repair mutL/hexB family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • correcting of base-base mismatches and insertion-deletion loops resulting from DNA replication and recombination events
  • possessing an intrinsic low-level ATPase activity
  • CELLULAR PROCESS cell cycle
    nucleotide, repair, mismatch repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    mismatch repair
    a component
  • heterodimers with MLH3, PMS1, PMS2
  • part of the BRCA1-associated genome surveillance complex (BASC)
  • INTERACTION
    DNA binding to GT mispairs
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • PMS2, MLH3, PhS1, NF1
  • MLH1-MLH3, a meiotic crossover and DNA mismatch repair factor, is a MSH2-MSH3-stimulated endonuclease
  • cell & other
    REGULATION
    inhibited by promoter hypermethylation
    ASSOCIATED DISORDERS
    corresponding disease(s) HNPCC2 , MTS2 , CMMRD
    related resource InternationalGrouponHereditaryNon-PolyposisColorectalCancer
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in colon and uterus tumor
    tumoral germinal mutation      
    in the 3'-untranslated region (3'-UTR) leads to DNA mismatch repair deficiency, conferring leukemia relapse
    tumoral   deletion    
    in early and late-onset breast carcinoma
    tumoral     --low  
    by promoter methylation, associated with poor prognosis in non-small cell lung carcinoma
    Susceptibility
  • to inflammatory bowel disease (Crohn, ulcerative colitis)
  • to prostate cancer
  • Variant & Polymorphism other
  • a protective role for the codon 384 variant allele against prostate cancer
  • rare genetic variants that confer a high risk of prostate cancer when mutated
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS