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    Mlh1 mutL homolog 1 [ Mus musculus (house mouse) ]

    Gene ID: 17350, updated on 12-Mar-2017
    Official Symbol
    Mlh1provided by MGI
    Official Full Name
    mutL homolog 1provided by MGI
    Primary source
    MGI:MGI:101938
    See related
    Ensembl:ENSMUSG00000032498 Vega:OTTMUSG00000031784
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AI317206; AI325952; AI561766; 1110035C23Rik
    Orthologs
    Location:
    9 F3; 9 60.92 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (111228228..111271786, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (111130732..111174112, complement)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31, pseudogene 19 Neighboring gene leucine rich repeat (in FLII) interacting protein 2 Neighboring gene EPM2A (laforin) interacting protein 1 Neighboring gene predicted gene, 40580

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), conserved biosystemStructural complex; Genetic information processing; Repair system
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Colorectal cancer, organism-specific biosystem (from KEGG)
      Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Colorectal cancer, conserved biosystem (from KEGG)
      Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Endometrial cancer, organism-specific biosystem (from KEGG)
      Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
    • Endometrial cancer, conserved biosystem (from KEGG)
      Endometrial cancer, conserved biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Meiotic Recombination, organism-specific biosystem (from REACTOME)
      Meiotic Recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
    • Meiotic recombination, organism-specific biosystem (from REACTOME)
      Meiotic recombination, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Mismatch Repair, organism-specific biosystem (from REACTOME)
      Mismatch Repair, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Mismatch repair, organism-specific biosystem (from KEGG)
      Mismatch repair, organism-specific biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair, organism-specific biosystem (from WikiPathways)
      Mismatch repair, organism-specific biosystemDNA mismatch repair is a system for recognizing and repairing erroneous insertion, deletion and mis-incorporation of bases that can arise during DNA replication and recombination, as well as repairin...
    • Mismatch repair, conserved biosystem (from KEGG)
      Mismatch repair, conserved biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystem (from REACTOME)
      Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Mus musculus biological processes, organism-specific biosystem (from REACTOME)
      Mus musculus biological processes, organism-specific biosystemCertain mouse pathways have been fully manually curated in Reactome in order to support the manual inference of well-conserved but less well-studied human pathways. These pathways include Circadian...
    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystem
      Ovarian Infertility Genes
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to MutSalpha complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    guanine/thymine mispair binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    guanine/thymine mispair binding ISO
    Inferred from Sequence Orthology
    more info
     
    mismatched DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    female meiosis chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    homologous chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    isotype switching IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    leptotene IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    male meiosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    male meiosis chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    meiotic chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    meiotic metaphase I plate congression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    meiotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    meiotic nuclear division TAS
    Traceable Author Statement
    more info
    PubMed 
    meiotic spindle midzone assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    meiotic telomere clustering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mismatch repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mismatch repair ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of mitotic recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear-transcribed mRNA poly(A) tail shortening IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    reciprocal meiotic recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    resolution of meiotic recombination intermediates IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somatic recombination of immunoglobulin gene segments IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somatic recombination of immunoglobulin genes involved in immune response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    synapsis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    MutLalpha complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chiasma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed chromosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late recombination nodule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    male germ cell nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    synaptonemal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptonemal complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    DNA mismatch repair protein Mlh1
    Names
    colon cancer, nonpolyposis type 2
    mutL protein homolog 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001324522.1NP_001311451.1  DNA mismatch repair protein Mlh1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a frame-shifting alternate splice site in the 5' region and uses a downstream start codon, compared to variant 1. It encodes isoform 2 which lacks a large segment of the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK163861, AK168849, BY327218
      UniProtKB/Swiss-Prot
      Q9JK91
      Conserved Domains (2) summary
      cd03483
      Location:194
      MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
      pfam16413
      Location:264519
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    2. NM_026810.2NP_081086.2  DNA mismatch repair protein Mlh1 isoform 1

      See identical proteins and their annotated locations for NP_081086.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK145646, AK163861, BY327218
      Consensus CDS
      CCDS40784.1
      UniProtKB/Swiss-Prot
      Q9JK91
      Related
      ENSMUSP00000035079, OTTMUSP00000041918, ENSMUST00000035079, OTTMUST00000078764
      Conserved Domains (4) summary
      cd03483
      Location:211335
      MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
      TIGR00585
      Location:6315
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:505760
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl00075
      Location:31132
      HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      111228228..111271786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511951.3XP_006512014.1  DNA mismatch repair protein Mlh1 isoform X4

      Conserved Domains (1) summary
      pfam16413
      Location:164419
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    2. XM_006511948.3XP_006512011.1  DNA mismatch repair protein Mlh1 isoform X3

      See identical proteins and their annotated locations for XP_006512011.1

      Conserved Domains (2) summary
      cd03483
      Location:194
      MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
      pfam16413
      Location:264519
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    3. XM_011242935.2XP_011241237.1  DNA mismatch repair protein Mlh1 isoform X1

      Conserved Domains (3) summary
      cd03483
      Location:164288
      MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
      TIGR00585
      Location:23268
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:458713
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    4. XM_006511946.3XP_006512009.1  DNA mismatch repair protein Mlh1 isoform X2

      Conserved Domains (2) summary
      pfam16413
      Location:265520
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl02783
      Location:2495
      TopoII_MutL_Trans; MutL_Trans: transducer domain, having a ribosomal S5 domain 2-like fold, conserved in the C-terminal domain of type II DNA topoisomerases (Topo II) and DNA mismatch repair (MutL/MLH1/PMS2) proteins. This transducer domain is homologous to the second ...

    RNA

    1. XR_379848.2 RNA Sequence

    2. XR_001778805.1 RNA Sequence

    3. XR_379849.3 RNA Sequence

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