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    MLH3 mutL homolog 3 [ Homo sapiens (human) ]

    Gene ID: 27030, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:7128
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MLH3 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75013775..75051467, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69222838..69260934, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75480478..75518170, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8733 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:75431938-75433137 Neighboring gene placental growth factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75446625-75447250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75447251-75447876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75447877-75448500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8734 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75469302-75469982 Neighboring gene eukaryotic translation initiation factor 2B subunit beta Neighboring gene RNA, U6 small nuclear 689, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75535987-75536538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75536539-75537090 Neighboring gene acylphosphatase 1 Neighboring gene zinc finger C2HC-type containing 1C Neighboring gene NIMA related kinase 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs
    Colorectal cancer, hereditary nonpolyposis, type 7
    MedGen: C1858380 OMIM: 614385 GeneReviews: Not available
    Compare labs
    Endometrial carcinoma
    MedGen: C0476089 OMIM: 608089 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138372

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    DNA mismatch repair protein Mlh3

    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.

    Genomic

    1. NG_008649.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001040108.2NP_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
      P49751, Q56DK9, Q9P292, Q9UHC0, Q9UHC1
      UniProtKB/TrEMBL
      Q2M1Z1
      Related
      ENSP00000348020.2, ENST00000355774.7
      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_014381.3NP_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, ENST00000380968.6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      75013775..75051467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431265.1XP_047287221.1  DNA mismatch repair protein Mlh3 isoform X4

    2. XM_024449538.2XP_024305306.1  DNA mismatch repair protein Mlh3 isoform X3

      UniProtKB/TrEMBL
      Q2M1Z1
      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_017021219.3XP_016876708.1  DNA mismatch repair protein Mlh3 isoform X2

      UniProtKB/TrEMBL
      Q2M1Z1
      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
    4. XM_006720116.5XP_006720179.1  DNA mismatch repair protein Mlh3 isoform X1

      See identical proteins and their annotated locations for XP_006720179.1

      UniProtKB/Swiss-Prot
      P49751, Q56DK9, Q9P292, Q9UHC0, Q9UHC1
      UniProtKB/TrEMBL
      Q2M1Z1
      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
    5. XM_005267533.6XP_005267590.1  DNA mismatch repair protein Mlh3 isoform X4

      UniProtKB/TrEMBL
      Q2M1Z1
      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
    6. XM_005267532.6XP_005267589.1  DNA mismatch repair protein Mlh3 isoform X3

      UniProtKB/TrEMBL
      Q2M1Z1
      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]
    7. XM_047431266.1XP_047287222.1  DNA mismatch repair protein Mlh3 isoform X5

    8. XM_047431268.1XP_047287224.1  DNA mismatch repair protein Mlh3 isoform X8

    9. XM_005267534.4XP_005267591.1  DNA mismatch repair protein Mlh3 isoform X7

      UniProtKB/TrEMBL
      Q2M1Z1
      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
    10. XM_047431267.1XP_047287223.1  DNA mismatch repair protein Mlh3 isoform X6

    11. XM_047431269.1XP_047287225.1  DNA mismatch repair protein Mlh3 isoform X9

    RNA

    1. XR_007064005.1 RNA Sequence

    2. XR_007064004.1 RNA Sequence

    3. XR_001750225.3 RNA Sequence

    4. XR_245681.5 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      69222838..69260934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375855.1XP_054231830.1  DNA mismatch repair protein Mlh3 isoform X2

    2. XM_054375857.1XP_054231832.1  DNA mismatch repair protein Mlh3 isoform X3

    3. XM_054375859.1XP_054231834.1  DNA mismatch repair protein Mlh3 isoform X4

    4. XM_054375854.1XP_054231829.1  DNA mismatch repair protein Mlh3 isoform X1

    5. XM_054375858.1XP_054231833.1  DNA mismatch repair protein Mlh3 isoform X4

    6. XM_054375856.1XP_054231831.1  DNA mismatch repair protein Mlh3 isoform X3

    7. XM_054375860.1XP_054231835.1  DNA mismatch repair protein Mlh3 isoform X5

    8. XM_054375863.1XP_054231838.1  DNA mismatch repair protein Mlh3 isoform X8

    9. XM_054375862.1XP_054231837.1  DNA mismatch repair protein Mlh3 isoform X7

    10. XM_054375861.1XP_054231836.1  DNA mismatch repair protein Mlh3 isoform X6

    11. XM_054375864.1XP_054231839.1  DNA mismatch repair protein Mlh3 isoform X9

    RNA

    1. XR_008488857.1 RNA Sequence

    2. XR_008488856.1 RNA Sequence

    3. XR_008488855.1 RNA Sequence

    4. XR_008488854.1 RNA Sequence