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    Mlh3 mutL homolog 3 [ Mus musculus (house mouse) ]

    Gene ID: 217716, updated on 9-Dec-2024

    Summary

    Official Symbol
    Mlh3provided by MGI
    Official Full Name
    mutL homolog 3provided by MGI
    Primary source
    MGI:MGI:1353455
    See related
    Ensembl:ENSMUSG00000021245 AllianceGenome:MGI:1353455
    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
    Summary
    Enables centromeric DNA binding activity and chromatin binding activity. Acts upstream of or within meiotic nuclear division; mismatch repair; and protein localization. Located in chiasma; male germ cell nucleus; and synaptonemal complex. Part of mismatch repair complex. Is expressed in brain; early conceptus; ileum; reproductive system; and trigeminal nerve. Human ortholog(s) of this gene implicated in Lynch syndrome; colorectal cancer; endometrial cancer; and hereditary nonpolyposis colorectal cancer type 7. Orthologous to human MLH3 (mutL homolog 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 2.6), testis adult (RPKM 2.4) and 27 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Mlh3 in Genome Data Viewer
    Location:
    12 D1; 12 39.61 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (85281240..85317421, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (85234466..85270647, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:86533825-86534109 Neighboring gene NADH dehydrogenase (ubiquinone) 1 beta subcomplex 3 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E1858 Neighboring gene eukaryotic translation initiation factor 2B, subunit 2 beta Neighboring gene microRNA 6938 Neighboring gene 40S ribosomal protein S25 pseudogene Neighboring gene STARR-seq mESC enhancer starr_32767 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:86621244-86621431 Neighboring gene zinc finger, C2HC-type containing 1C Neighboring gene acylphosphatase 1 Neighboring gene STARR-positive B cell enhancer ABC_E7161 Neighboring gene STARR-seq mESC enhancer starr_32769 Neighboring gene STARR-seq mESC enhancer starr_32770 Neighboring gene NIMA (never in mitosis gene a)-related expressed kinase 9

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC100285

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables centromeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chiasma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in condensed chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in male germ cell nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mismatch repair complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of mismatch repair complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptonemal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA mismatch repair protein Mlh3
    Names
    mutL 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001304475.1NP_001291404.1  DNA mismatch repair protein Mlh3

      See identical proteins and their annotated locations for NP_001291404.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK132195, BC079861, BE993968
      Consensus CDS
      CCDS36497.1
      UniProtKB/TrEMBL
      Q3V1X3, Q68FG1
      Related
      ENSMUSP00000129900.2, ENSMUST00000166821.8
      Conserved Domains (3) summary
      smart00853
      Location:11531333
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
      cd16926
      Location:12192
      HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
    2. NM_175337.2NP_780546.1  DNA mismatch repair protein Mlh3

      See identical proteins and their annotated locations for NP_780546.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK035887, BC079861, BE993968
      Consensus CDS
      CCDS36497.1
      UniProtKB/TrEMBL
      Q3V1X3, Q68FG1
      Related
      ENSMUSP00000019378.7, ENSMUST00000019378.8
      Conserved Domains (3) summary
      smart00853
      Location:11531333
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
      cd16926
      Location:12192
      HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      85281240..85317421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515703.4XP_006515766.1  DNA mismatch repair protein Mlh3 isoform X1

      See identical proteins and their annotated locations for XP_006515766.1

      UniProtKB/TrEMBL
      A0A1Y7VMP7, Q3V1X3
      Related
      ENSMUSP00000152840.2, ENSMUST00000220854.2
      Conserved Domains (3) summary
      smart00853
      Location:11851365
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
      cd16926
      Location:12192
      HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
    2. XM_036157329.1XP_036013222.1  DNA mismatch repair protein Mlh3 isoform X2

      UniProtKB/TrEMBL
      Q3V1X3, Q68FG1
      Conserved Domains (3) summary
      smart00853
      Location:11531333
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
      cd16926
      Location:12192
      HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
    3. XM_006515704.5XP_006515767.1  DNA mismatch repair protein Mlh3 isoform X1

      See identical proteins and their annotated locations for XP_006515767.1

      UniProtKB/TrEMBL
      A0A1Y7VMP7, Q3V1X3
      Conserved Domains (3) summary
      smart00853
      Location:11851365
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
      cd16926
      Location:12192
      HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
    4. XM_006515706.5XP_006515769.1  DNA mismatch repair protein Mlh3 isoform X1

      See identical proteins and their annotated locations for XP_006515769.1

      UniProtKB/TrEMBL
      A0A1Y7VMP7, Q3V1X3
      Conserved Domains (3) summary
      smart00853
      Location:11851365
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
      cd16926
      Location:12192
      HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
    5. XM_036157330.1XP_036013223.1  DNA mismatch repair protein Mlh3 isoform X2

      UniProtKB/TrEMBL
      Q3V1X3, Q68FG1
      Conserved Domains (3) summary
      smart00853
      Location:11531333
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
      cd16926
      Location:12192
      HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145446.1: Suppressed sequence

      Description
      NM_145446.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.