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    MLH1 mutL homolog 1 [ Homo sapiens (human) ]

    Gene ID: 4292, updated on 29-Mar-2020

    Summary

    Official Symbol
    MLH1provided by HGNC
    Official Full Name
    mutL homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:7127
    See related
    Ensembl:ENSG00000076242 MIM:120436
    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
    FCC2; COCA2; HNPCC; hMLH1; HNPCC2
    Summary
    The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in testis (RPKM 17.8), thyroid (RPKM 13.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See MLH1 in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (36993350..37050846)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (37034841..37092337)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protease associated domain containing 1 pseudogene 1 Neighboring gene EPM2A interacting protein 1 Neighboring gene ribosomal protein L29 pseudogene 11 Neighboring gene LRR binding FLII interacting protein 2 Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1301, pseudogene

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MLH1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Lynch syndrome II
    MedGen: C1333991 OMIM: 609310 GeneReviews: Lynch Syndrome
    Compare labs
    Muir-Torre syndrome
    MedGen: C1321489 OMIM: 158320 GeneReviews: Lynch Syndrome
    Compare labs
    Turcot syndrome
    MedGen: C0265325 OMIM: 276300 GeneReviews: Lynch Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-11-16)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-16)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC5172

    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 
    contributes_to MutSalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    guanine/thymine mispair binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    double-strand break repair via nonhomologous end joining IEA
    Inferred from Electronic Annotation
    more info
     
    female meiosis chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    isotype switching IEA
    Inferred from Electronic Annotation
    more info
     
    male meiosis chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic metaphase I plate congression IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic spindle midzone assembly IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic telomere clustering IEA
    Inferred from Electronic Annotation
    more info
     
    mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mismatch repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    mismatch repair TAS
    Traceable Author Statement
    more info
     
    negative regulation of mitotic recombination IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear-transcribed mRNA poly(A) tail shortening IEA
    Inferred from Electronic Annotation
    more info
     
    oogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of isotype switching to IgA isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of isotype switching to IgG isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    resolution of meiotic recombination intermediates IEA
    Inferred from Electronic Annotation
    more info
     
    response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    somatic hypermutation of immunoglobulin genes IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    synapsis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    MutLalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell IEA
    Inferred from Electronic Annotation
    more info
     
    chiasma IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    late recombination nodule IEA
    Inferred from Electronic Annotation
    more info
     
    male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    mismatch repair complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptonemal complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    DNA mismatch repair protein Mlh1
    Names
    mutL homolog 1, colon cancer, nonpolyposis type 2

    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_007109.2 RefSeqGene

      Range
      5001..62497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_216

    mRNA and Protein(s)

    1. NM_000249.4NP_000240.1  DNA mismatch repair protein Mlh1 isoform 1

      See identical proteins and their annotated locations for NP_000240.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC006850
      Consensus CDS
      CCDS2663.1
      UniProtKB/Swiss-Prot
      P40692
      Related
      ENSP00000231790.2, ENST00000231790.7
      Conserved Domains (2) summary
      TIGR00585
      Location:6315
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:502756
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    2. NM_001167617.2NP_001161089.1  DNA mismatch repair protein Mlh1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5'-terminal exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 13 both encode the same isoform (2).
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54562.1
      UniProtKB/Swiss-Prot
      P40692
      Related
      ENSP00000402564.1, ENST00000435176.5
      Conserved Domains (2) summary
      pfam16413
      Location:404658
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:4217
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    3. NM_001167618.2NP_001161090.1  DNA mismatch repair protein Mlh1 isoform 3

      See identical proteins and their annotated locations for NP_001161090.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5'-terminal exon and uses an alternate splice site in a 5' exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54563.1
      UniProtKB/Swiss-Prot
      P40692
      UniProtKB/TrEMBL
      A0A024R2S9
      Related
      ENSP00000398272.2, ENST00000455445.6
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    4. NM_001167619.2NP_001161091.1  DNA mismatch repair protein Mlh1 isoform 3

      See identical proteins and their annotated locations for NP_001161091.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a distinct 5'-terminal exon and lacks a 5' exon and therefore lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54563.1
      UniProtKB/Swiss-Prot
      P40692
      UniProtKB/TrEMBL
      A0A024R2S9
      Related
      ENSP00000443665.1, ENST00000539477.6
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    5. NM_001258271.1NP_001245200.1  DNA mismatch repair protein Mlh1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB209848, BC006850, CN414955
      UniProtKB/Swiss-Prot
      P40692
      UniProtKB/TrEMBL
      Q59EG3
      Related
      ENSP00000416687.2, ENST00000456676.6
      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:501687
      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
    6. NM_001258273.1NP_001245202.1  DNA mismatch repair protein Mlh1 isoform 3

      See identical proteins and their annotated locations for NP_001245202.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).
      Source sequence(s)
      AK316264, BC006850, CN414955
      Consensus CDS
      CCDS54563.1
      UniProtKB/Swiss-Prot
      P40692
      UniProtKB/TrEMBL
      A0A024R2S9
      Related
      ENSP00000444286.2, ENST00000536378.5
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    7. NM_001258274.2NP_001245203.1  DNA mismatch repair protein Mlh1 isoform 3

      See identical proteins and their annotated locations for NP_001245203.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and contains an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1. Variants 3, 4, and 6-12 all encode the same isoform (3).
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54563.1
      UniProtKB/Swiss-Prot
      P40692
      UniProtKB/TrEMBL
      A0A024R2S9
      Related
      ENSP00000402667.2, ENST00000458205.6
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    8. NM_001354615.1NP_001341544.1  DNA mismatch repair protein Mlh1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 3, 4, 6, 7, and 9-12, encodes isoform 3.
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54563.1
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    9. NM_001354616.1NP_001341545.1  DNA mismatch repair protein Mlh1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 3, 4, 6-8, and 10-12, encodes isoform 3.
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54563.1
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    10. NM_001354617.1NP_001341546.1  DNA mismatch repair protein Mlh1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 3, 4, 6-9, 11, and 12, encodes isoform 3.
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54563.1
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    11. NM_001354618.1NP_001341547.1  DNA mismatch repair protein Mlh1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 3, 4, 6-10, and 12, encodes isoform 3.
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54563.1
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    12. NM_001354619.1NP_001341548.1  DNA mismatch repair protein Mlh1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 3, 4, and 6-11, encodes isoform 3.
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54563.1
      Related
      ENSP00000501081.1, ENST00000674019.1
      Conserved Domains (3) 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:261515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    13. NM_001354620.1NP_001341549.1  DNA mismatch repair protein Mlh1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variant 2, encodes isoform 2.
      Source sequence(s)
      AC006583, AC011816
      Consensus CDS
      CCDS54562.1
      Conserved Domains (2) summary
      pfam16413
      Location:404658
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:4217
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    14. NM_001354621.1NP_001341550.1  DNA mismatch repair protein Mlh1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 15 and 16, encodes isoform 5.
      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (1) summary
      pfam16413
      Location:161415
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    15. NM_001354622.1NP_001341551.1  DNA mismatch repair protein Mlh1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 14 and 16, encodes isoform 5.
      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (1) summary
      pfam16413
      Location:161415
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    16. NM_001354623.1NP_001341552.1  DNA mismatch repair protein Mlh1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 14 and 15, encodes isoform 5.
      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (1) summary
      pfam16413
      Location:161415
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    17. NM_001354624.1NP_001341553.1  DNA mismatch repair protein Mlh1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 18-20, encodes isoform 6.
      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (1) summary
      pfam16413
      Location:144398
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    18. NM_001354625.1NP_001341554.1  DNA mismatch repair protein Mlh1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 17, 19, and 20, encodes isoform 6.
      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (1) summary
      pfam16413
      Location:144398
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    19. NM_001354626.1NP_001341555.1  DNA mismatch repair protein Mlh1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 17, 18, and 20, encodes isoform 6.
      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (1) summary
      pfam16413
      Location:144398
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    20. NM_001354627.1NP_001341556.1  DNA mismatch repair protein Mlh1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 17-19, encodes isoform 6.
      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (1) summary
      pfam16413
      Location:144398
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    21. NM_001354628.1NP_001341557.1  DNA mismatch repair protein Mlh1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (2) summary
      TIGR00585
      Location:6315
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:502725
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    22. NM_001354629.1NP_001341558.1  DNA mismatch repair protein Mlh1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC006583, AC011816
      Conserved Domains (2) summary
      TIGR00585
      Location:6282
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:469723
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    23. NM_001354630.1NP_001341559.1  DNA mismatch repair protein Mlh1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC006583, AC011816
      Related
      ENSP00000500979.1, ENST00000673673.1
      Conserved Domains (2) summary
      TIGR00585
      Location:6315
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:502701
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      36993350..37050846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265161.2XP_005265218.1  DNA mismatch repair protein Mlh1 isoform X1

      Conserved Domains (4) summary
      TIGR00585
      Location:6246
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:432687
      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
      cl02783
      Location:227266
      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 ...
    2. XM_017006450.2XP_016861939.1  DNA mismatch repair protein Mlh1 isoform X2

      Related
      ENSP00000480669.2, ENST00000616768.5
      Conserved Domains (1) summary
      pfam16413
      Location:161415
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
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