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FLASH GENE
Symbol MLH3 contributors: mct - updated : 15-09-2016
HGNC name mutL homolog 3 (E. coli)
HGNC id 7128
Corresponding disease
HNPCC7 colorectal cancer, hereditary, nonpolyposis, type 7
Location 14q24.3      Physical location : 75.480.466 - 75.518.235
Synonym name DNA mismatch repair protein MLH3
Synonym symbol(s) HNPCC7, MGC138372
DNA
TYPE functioning gene
STRUCTURE 34.00 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 7911 - 1453 - Taylor
13 - 7839 - 1429 - Taylor
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   highly
 pharynx   highly
Lymphoid/Immunetonsils   highly
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Connectivebone  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • predicted ATPase motif in the N terminus
  • a C terminal MLH1 interaction domain
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast mutator gene (bacterial Mut L)
    Homologene
    FAMILY DNA mismatch repair MUTl/HEXB family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • putatively primarily involved in repair of insertion/deletion loops and associated when mutated, with microsatellite instability
  • involved in meiotic recombination
  • TEX11, testis expressed gene 15 (TEX15), mutL homolog 1 (MLH1), and homolog 3 (MLH3), play critical roles in genome integrity, meiotic recombination, and gametogenesis
  • MutL homolog protein in mammals playing a role in DNA mismatch repair, is associated with spermatogenesis and male infertility
  • CELLULAR PROCESS nucleotide, repair, mismatch repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimer of MLH1 and MLH3
    INTERACTION
    DNA
    RNA MSH4 in meiotic cells
    small molecule
    protein
  • MLH1
  • MLH1-MLH3, a meiotic crossover and DNA mismatch repair factor, is a MSH2-MSH3-stimulated endonuclease
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HNPCC7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in colorectal cancer
    tumoral     --low  
    in low-grade glioma, by methylation of the promoter
    Susceptibility
  • to colorectal cancer (in association with MLH1 mutation)
  • to male infertility
  • Variant & Polymorphism SNP
  • rs 175080 in the MLH3 gene associated to male infertility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS