Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
Physical map
C14orf44 14q24.2 chromosome 14 open reading frame 44 COQ6 14q24.2 coenzyme Q6 homolog (yeast) ENTPD5 14q24 ectonucleoside triphosphate diphosphohydrolase 5 RPL41P4 14 ribosomal protein L41 pseudogene 4 C14orf45 14q24.2 chromosome 14 open reading frame 45 ALDH6A1 14q24.2 aldehyde dehydrogenase 6 family, member A1 C14orf46 14q24.2 chromosome 14 open reading frame 46 CHX10 14q24.3 ceh-10 homeo domain containing homolog (C. elegans) ABCD4 14q24.3 ATP-binding cassette, sub-family D (ALD), member 4 C14orf115 14q24.2 chromosome 14 open reading frame 115 RPS2P2 14 ribosomal protein S2 pseudogene 2 NPC2 14q24.3 Niemann-Pick disease, type C2 HBLD1 14q24.2 HESB like domain containing 1 C14orf141 14q24.2 chromosome 14 open reading frame 141 LTBP2 14q24.3 latent transforming growth factor beta binding protein 2 KIAA0317 14q22.1-q24.3 latent transforming growth factor beta binding protein 2 C14orf111 14q24.2 chromosome 14 open reading frame 111 C14orf170 14q24.3 chromosome 14 open reading frame 170 FLJ36749 14q24.2 hypothetical protein FLJ36749 LOC390494 14 similar to DC3 DLST 14q24.3 dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) RPS6KL1 14q24.2 ribosomal protein S6 kinase-like 1 PGF 14q24.3 placental growth factor, vascular endothelial growth factor-related protein EIF2B2 14q24.3 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa MLH3 14q24.3 mutL homolog 3 (E. coli) LOC387998 14 similar to Acylphosphatase, organ-common type isozyme (Acylphosphate phosphohydrolase) (Acylphosphatase, erythrocyte isozyme) C14orf140 14q24.2 chromosome 14 open reading frame 140 NEK9 14q24.2 NIMA (never in mitosis gene a)- related kinase 9 TMP21 14q24.3 NIMA (never in mitosis gene a)- related kinase 9 LOC338918 14q24.2 hypothetical LOC338918 FOS 14q24.3 v-fos FBJ murine osteosarcoma viral oncogene homolog LOC341912 14q24.2 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 JDP2 14q24.3 jun dimerization protein 2 BATF 14q24 basic leucine zipper transcription factor, ATF-like C14orf58 14q24.2 chromosome 14 open reading frame 58 RPS24P2 14 ribosomal protein S24 pseudogene 2 C14orf1 14q24.3 chromosome 14 open reading frame 1 KIAA0998 14q24.3 chromosome 14 open reading frame 1 TGFB3 14q24.3 transforming growth factor, beta 3 MGC16028 14q24.3 MGC16028 similar to RIKEN cDNA 1700019E19 gene
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
  • 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