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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
Corresponding disease
CMMRD constitutional mismatch repair-deficiency syndrome
HNPCC2 hereditary non polyposis colorectal cancer, type 2
MTS2 Muir-Torre syndrome
Location 3p22.2      Physical location : 37.034.840 - 37.092.335
Synonym name
  • DNA mismatch repair protein Mlh1
  • MutL protein homolog 1
  • Synonym symbol(s) COCA2, HNPCC, FCC2, hMLH1, HNPCC, MGC5172
    DNA
    TYPE functioning gene
    STRUCTURE 57.50 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   enhancer
    text structure promoter contains multiple redundant enhancer elements capable of independent promoter activation
    MAPPING cloned Y linked N status confirmed
    Physical map
    ARPP-21 3p22.1 myeloid differentiation primary response gene (88) STAC 3p22.3 src homology three (SH3) and cysteine rich domain LOC205655 3p22.1 similar to hypothetical protein MGC8902 KIAA1765 3p22.1 KIAA1765 protein KIAA0342 3p24.2-p23 KIAA1765 protein LOC389106 3 LOC389106 LOC389107 3 similar to Hsp70/Hsp90 organizing protein homolog CG2720-PA LOC389108 3 LOC389108 LOC391527 3 similar to chromosome 2 open reading frame 7 EPM2AIP1 3p22.1 EPM2A (laforin) interacting protein 1 MLH1 3p21.3 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) LRRFIP2 3p24.3-p23 leucine rich repeat (in FLII) interacting protein 2 FLJ31715 3p22.1 hypothetical protein FLJ31715 GOLGA4 3p22-p21.3 golgi autoantigen, golgin subfamily a, 4 APRG1 3p22.1 AP20 region protein ITGA9 3p21.3 integrin, alpha 9 CTDSPL 3p21.3 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like VILL 3p21.3 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like PLCD1 3p21.3 phospholipase C, delta 1 DLEC1 ACAA1 3p23-p22 acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) MYD88 3p22-p21.3 myeloid differentiation primary response gene (88)
    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