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Aliases for MLH3 Gene

Aliases for MLH3 Gene

  • MutL Homolog 3 2 3 5
  • MutL (E. Coli) Homolog 3 2
  • MutL Homolog 3 (E. Coli) 2
  • MutL Protein Homolog 3 4
  • HNPCC7 3

External Ids for MLH3 Gene

Previous GeneCards Identifiers for MLH3 Gene

  • GC14M073009
  • GC14M069300
  • GC14M073473
  • GC14M074553
  • GC14M075481
  • GC14M055648

Summaries for MLH3 Gene

Entrez Gene Summary for MLH3 Gene

  • This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for MLH3 Gene

MLH3 (MutL Homolog 3) is a Protein Coding gene. Diseases associated with MLH3 include colorectal cancer, hereditary nonpolyposis, type 7 and endometrial cancer. Among its related pathways are Mismatch repair and Cell Cycle, Mitotic. GO annotations related to this gene include chromatin binding and single-stranded DNA binding.

UniProtKB/Swiss-Prot for MLH3 Gene

  • Probably involved in the repair of mismatches in DNA.

Gene Wiki entry for MLH3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLH3 Gene

Genomics for MLH3 Gene

Regulatory Elements for MLH3 Gene

Enhancers for MLH3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MLH3 on UCSC Golden Path with GeneCards custom track

Promoters for MLH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MLH3 on UCSC Golden Path with GeneCards custom track

Genomic Location for MLH3 Gene

Chromosome:
14
Start:
75,013,764 bp from pter
End:
75,051,532 bp from pter
Size:
37,769 bases
Orientation:
Minus strand

Genomic View for MLH3 Gene

Genes around MLH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLH3 Gene

Proteins for MLH3 Gene

  • Protein details for MLH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHC1-MLH3_HUMAN
    Recommended name:
    DNA mismatch repair protein Mlh3
    Protein Accession:
    Q9UHC1
    Secondary Accessions:
    • P49751
    • Q56DK9
    • Q9P292
    • Q9UHC0

    Protein attributes for MLH3 Gene

    Size:
    1453 amino acids
    Molecular mass:
    163711 Da
    Quaternary structure:
    • Heterodimer of MLH1 and MLH3. Interacts with MTMR15/FAN1.
    SequenceCaution:
    • Sequence=AAC42005.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAC42005.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for MLH3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLH3 Gene

Proteomics data for MLH3 Gene at MOPED

Post-translational modifications for MLH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MLH3 Gene

Domains & Families for MLH3 Gene

Gene Families for MLH3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHC1

UniProtKB/Swiss-Prot:

MLH3_HUMAN :
  • Belongs to the DNA mismatch repair MutL/HexB family.
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with MLH3: view

Function for MLH3 Gene

Molecular function for MLH3 Gene

GENATLAS Biochemistry:
yeast mutator gene homolog (bacterial Mut L),ubiquitously expressed,highly in gastrointestinal epithelium,interacting with MLH1,putatively primarily involved in repair of insestion/deletion loops and associated with microsatellite instability
UniProtKB/Swiss-Prot Function:
Probably involved in the repair of mismatches in DNA.

Gene Ontology (GO) - Molecular Function for MLH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003697 single-stranded DNA binding IBA --
GO:0005515 protein binding IPI 20603073
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MLH3: view
genes like me logo Genes that share phenotypes with MLH3: view

Human Phenotype Ontology for MLH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MLH3 Gene

MGI Knock Outs for MLH3:

Animal Model Products

miRNA for MLH3 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MLH3 Gene

Localization for MLH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLH3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MLH3 Gene COMPARTMENTS Subcellular localization image for MLH3 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for MLH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001673 male germ cell nucleus IEA --
GO:0005634 nucleus IDA --
GO:0005712 chiasma IEA,IBA --
genes like me logo Genes that share ontologies with MLH3: view

Pathways & Interactions for MLH3 Gene

SuperPathways for MLH3 Gene

genes like me logo Genes that share pathways with MLH3: view

Pathways by source for MLH3 Gene

3 Reactome pathways for MLH3 Gene
1 KEGG pathway for MLH3 Gene

Gene Ontology (GO) - Biological Process for MLH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007140 male meiosis IEA --
GO:0007144 female meiosis I IEA --
genes like me logo Genes that share ontologies with MLH3: view

No data available for SIGNOR curated interactions for MLH3 Gene

Drugs & Compounds for MLH3 Gene

No Compound Related Data Available

Transcripts for MLH3 Gene

Unigene Clusters for MLH3 Gene

MutL homolog 3 (E. coli):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MLH3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - -
SP2:
SP3:

Relevant External Links for MLH3 Gene

GeneLoc Exon Structure for
MLH3
ECgene alternative splicing isoforms for
MLH3

Expression for MLH3 Gene

mRNA expression in normal human tissues for MLH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MLH3 Gene

This gene is overexpressed in Plasma (37.3), Seminal vesicle (20.4), and Rectum (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MLH3 Gene



SOURCE GeneReport for Unigene cluster for MLH3 Gene Hs.436650

mRNA Expression by UniProt/SwissProt for MLH3 Gene

Q9UHC1-MLH3_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with MLH3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MLH3 Gene

Orthologs for MLH3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MLH3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MLH3 35
  • 86.46 (n)
  • 80.25 (a)
MLH3 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLH3 35
  • 86.66 (n)
  • 79.23 (a)
MLH3 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mlh3 35
  • 81.05 (n)
  • 72.86 (a)
Mlh3 16
Mlh3 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MLH3 35
  • 99.36 (n)
  • 98.97 (a)
MLH3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlh3 35
  • 80.22 (n)
  • 72.41 (a)
oppossum
(Monodelphis domestica)
Mammalia MLH3 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLH3 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLH3 35
  • 62.03 (n)
  • 54.03 (a)
MLH3 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLH3 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mlh3 35
  • 63.35 (n)
  • 62.07 (a)
Str.7331 35
zebrafish
(Danio rerio)
Actinopterygii mlh3 35
  • 59.99 (n)
  • 55.24 (a)
mlh3 36
  • 42 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL093C 35
  • 41.61 (n)
  • 31.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C10032g 35
  • 42.09 (n)
  • 29.81 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLH3 35
  • 42.99 (n)
  • 28.78 (a)
MLH3 36
  • 23 (a)
OneToOne
MLH3 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
-- 36
  • 33 (a)
OneToMany
Species with no ortholog for MLH3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MLH3 Gene

ENSEMBL:
Gene Tree for MLH3 (if available)
TreeFam:
Gene Tree for MLH3 (if available)

Paralogs for MLH3 Gene

genes like me logo Genes that share paralogs with MLH3: view

No data available for Paralogs for MLH3 Gene

Variants for MLH3 Gene

Sequence variations from dbSNP and Humsavar for MLH3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_010790 -
rs28937870 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) 75,049,586(-) TGGGC(C/G)AATGT nc-transcript-variant, reference, missense
rs28937871 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) 75,048,160(-) AGAAA(A/G)TCCGT nc-transcript-variant, reference, missense
rs28756986 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) 75,047,786(-) AAACA(C/G)AACAT nc-transcript-variant, reference, missense
rs28756987 Hereditary non-polyposis colorectal cancer 7 (HNPCC7) 75,047,717(-) GAACA(C/T)GTCAT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MLH3 Gene

Variant ID Type Subtype PubMed ID
esv2489629 CNV Insertion 19546169
esv267486 CNV Insertion 20981092
esv272165 CNV Insertion 20981092
esv1578153 CNV Insertion 17803354
nsv510644 CNV Loss 20534489

Variation tolerance for MLH3 Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.25; 85.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MLH3 Gene

HapMap Linkage Disequilibrium report
MLH3
Human Gene Mutation Database (HGMD)
MLH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLH3 Gene

Disorders for MLH3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MLH3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer, hereditary nonpolyposis, type 7
  • hereditary non-polyposis colorectal cancer 7
endometrial cancer
  • endometrial cancer, familial
colorectal cancer
  • colorectal cancer, somatic
mlh3-related lynch syndrome
  • mlh3-related hereditary non-polyposis colon cancer
colorectal cancer 7
  • colorectal cancer, susceptibility to, 7
- elite association - COSMIC cancer census association via MalaCards
Search MLH3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MLH3_HUMAN
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:11317354}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term suspected HNPCC or incomplete HNPCC can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269 PubMed:11586295}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MLH3

Genetic Association Database (GAD)
MLH3
Human Genome Epidemiology (HuGE) Navigator
MLH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLH3
genes like me logo Genes that share disorders with MLH3: view

No data available for Genatlas for MLH3 Gene

Publications for MLH3 Gene

  1. MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. (PMID: 10615123) Lipkin S.M. … Collins F.S. (Nat. Genet. 2000) 2 3 4 48 67
  2. Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer. (PMID: 19115210) Koessler T. … Pharoah P.D. (Int. J. Cancer 2009) 3 23
  3. Common variants in mismatch repair genes and risk of colorectal cancer. (PMID: 18364438) Koessler T. … Pharoah P.D. (Gut 2008) 3 23
  4. The first functional study of MLH3 mutations found in cancer patients. (PMID: 18521850) Korhonen M.K. … NystrAPm M. (Genes Chromosomes Cancer 2008) 3 23
  5. Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. (PMID: 18723338) Mann A. … Song H. (Eur. J. Cancer 2008) 3 23

Products for MLH3 Gene

Sources for MLH3 Gene

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