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    MLH3 mutL homolog 3 [ Homo sapiens (human) ]

    Gene ID: 27030, updated on 2-Oct-2018

    Summary

    Official Symbol
    MLH3provided by HGNC
    Official Full Name
    mutL homolog 3provided by HGNC
    Primary source
    HGNC:HGNC:7128
    See related
    Ensembl:ENSG00000119684 MIM:604395; Vega:OTTHUMG00000171766
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HNPCC7
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.0), adrenal (RPKM 3.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See MLH3 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (75013764..75051532, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75480467..75518235, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984690 Neighboring gene placental growth factor Neighboring gene eukaryotic translation initiation factor 2B subunit beta Neighboring gene RNA, U6 small nuclear 689, pseudogene Neighboring gene acylphosphatase 1 Neighboring gene zinc finger C2HC-type containing 1C

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Endometrial carcinoma
    MedGen: C0476089 OMIM: 608089 GeneReviews: Not available
    Compare labs
    Hereditary nonpolyposis colorectal cancer type 7
    MedGen: C1858380 OMIM: 614385 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • 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...
    • 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, 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138372

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centromeric DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    mismatched DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    satellite DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    female meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    male meiotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mismatch repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    reciprocal meiotic recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    synaptonemal complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    MutLalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chiasma IEA
    Inferred from Electronic Annotation
    more info
     
    male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    mismatch repair complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    synaptonemal complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    DNA mismatch repair protein Mlh3

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008649.1 RefSeqGene

      Range
      5001..42769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_217

    mRNA and Protein(s)

    1. NM_001040108.1NP_001035197.1  DNA mismatch repair protein Mlh3 isoform 1

      See identical proteins and their annotated locations for NP_001035197.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB039667, AL049780, BX090851, DA805814
      Consensus CDS
      CCDS32123.1
      UniProtKB/Swiss-Prot
      Q9UHC1
      Related
      ENSP00000348020.2, ENST00000355774.6
      Conserved Domains (3) summary
      smart00853
      Location:11911370
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      pfam02518
      Location:22115
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
    2. NM_014381.2NP_055196.2  DNA mismatch repair protein Mlh3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as delta7, lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL049780, BC112167, BX090851, DA731365, DA805814
      Consensus CDS
      CCDS9837.1
      UniProtKB/TrEMBL
      Q2M1Z1
      Related
      ENSP00000370355.3, OTTHUMP00000246794, ENST00000380968.6, OTTHUMT00000415002
      Conserved Domains (3) summary
      smart00853
      Location:11911346
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      pfam02518
      Location:22115
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      75013764..75051532 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267533.5XP_005267590.1  DNA mismatch repair protein Mlh3 isoform X5

      Conserved Domains (3) summary
      smart00853
      Location:11561311
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      pfam02518
      Location:22115
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
    2. XM_005267532.5XP_005267589.1  DNA mismatch repair protein Mlh3 isoform X3

      Conserved Domains (3) summary
      smart00853
      Location:11561335
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      cl28386
      Location:1269
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    3. XM_011536646.3XP_011534948.1  DNA mismatch repair protein Mlh3 isoform X4

      Conserved Domains (3) summary
      smart00853
      Location:12171313
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      pfam02518
      Location:22115
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
    4. XM_024449538.1XP_024305306.1  DNA mismatch repair protein Mlh3 isoform X3

      Conserved Domains (3) summary
      smart00853
      Location:11561335
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      cl28386
      Location:1269
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    5. XM_024449539.1XP_024305307.1  DNA mismatch repair protein Mlh3 isoform X7

      Conserved Domains (1) summary
      cl28386
      Location:5225
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    6. XM_006720116.4XP_006720179.1  DNA mismatch repair protein Mlh3 isoform X1

      See identical proteins and their annotated locations for XP_006720179.1

      UniProtKB/Swiss-Prot
      Q9UHC1
      Related
      ENSP00000452316.1, OTTHUMP00000246797, ENST00000556740.5
      Conserved Domains (3) summary
      smart00853
      Location:11911370
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      pfam02518
      Location:22115
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
    7. XM_017021219.2XP_016876708.1  DNA mismatch repair protein Mlh3 isoform X2

      UniProtKB/Swiss-Prot
      Q9UHC1
      Conserved Domains (3) summary
      smart00853
      Location:11911346
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      pfam02518
      Location:22115
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
    8. XM_005267534.3XP_005267591.1  DNA mismatch repair protein Mlh3 isoform X6

      Conserved Domains (3) summary
      smart00853
      Location:11911275
      MutL_C; MutL C terminal dimerisation domain
      cd03486
      Location:206349
      MutL_Trans_MLH3; 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 ...
      pfam02518
      Location:22115
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase

    RNA

    1. XR_001750229.2 RNA Sequence

    2. XR_245681.4 RNA Sequence

    3. XR_001750225.2 RNA Sequence

    4. XR_002957544.1 RNA Sequence

    5. XR_001750230.2 RNA Sequence

    6. XR_001750227.2 RNA Sequence

    7. XR_001750228.2 RNA Sequence

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