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    MLH1 mutL homolog 1 [ Homo sapiens (human) ]

    Gene ID: 4292, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MLH1provided by HGNC
    Official Full Name
    mutL homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:7127
    See related
    Ensembl:ENSG00000076242 MIM:120436; AllianceGenome:HGNC:7127
    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; MLH-1; hMLH1; HNPCC2; LYNCH2; MMRCS1
    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
    mouse all
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    Genomic context

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    See MLH1 in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (36993466..37050846)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (36994839..37052189)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (37035009..37092337)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protease associated domain containing 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19671 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:37035199-37035710 Neighboring gene EPM2A interacting protein 1 Neighboring gene ribosomal protein L29 pseudogene 11 Neighboring gene LRR binding FLII interacting protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:37178613-37178766 Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1301, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia. Hiljadnikova-Bajro M, et al. Croat Med J, 2012 Oct. PMID 23100212, Free PMC Article
    2. Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation. Therkildsen C, et al. Fam Cancer, 2012 Dec. PMID 22864660
    3. Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Ward RL, et al. Genet Med, 2013 Jan. PMID 22878509, Free PMC Article
    4. MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes. Donehower LA, et al. J Pathol, 2013 Jan. PMID 22899370, Free PMC Article
    5. Analysis of the role of hMLH1 hypermethylation and microsatellite instability in meningioma progression. Chen MN, et al. Genet Mol Res, 2012 Nov 12. PMID 22930430

    See all (1000) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MLH1 Inhibits Metastatic Potential of Pancreatic Ductal Adenocarcinoma via Downregulation of GPRC5C.
      Title: MLH1 Inhibits Metastatic Potential of Pancreatic Ductal Adenocarcinoma via Downregulation of GPRC5C.
    2. [Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].
      Title: [Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].
    3. Unmasking early colorectal cancer clues: in silico and in vitro investigation of downregulated IGF2, SOCS1, MLH1, and CACNA1G in SSA polyps.
      Title: Unmasking early colorectal cancer clues: in silico and in vitro investigation of downregulated IGF2, SOCS1, MLH1, and CACNA1G in SSA polyps.
    4. TDP43 interacts with MLH1 and MSH6 proteins in a DNA damage-inducible manner.
      Title: TDP43 interacts with MLH1 and MSH6 proteins in a DNA damage-inducible manner.
    5. Histone H3K9 Lactylation Confers Temozolomide Resistance in Glioblastoma via LUC7L2-Mediated MLH1 Intron Retention.
      Title: Histone H3K9 Lactylation Confers Temozolomide Resistance in Glioblastoma via LUC7L2-Mediated MLH1 Intron Retention.
    6. Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation.
      Title: Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation.
    7. [Characteristics and clinical analysis of MLH1 c.463dupC gene mutation in a Lynch syndrome family].
      Title: [Characteristics and clinical analysis of MLH1 c.463dupC gene mutation in a Lynch syndrome family].
    8. Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.
      Title: Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.
    9. MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.
      Title: MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.
    10. MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.
      Title: MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (781)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-10-13)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5172

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_007109.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000249.4 → NP_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
      B4DI13, B4DQ11, E9PCU2, P40692
      UniProtKB/TrEMBL
      B2R6K0, Q5GJ64
      Related
      ENSP00000231790.3, ENST00000231790.8
      Conserved Domains (2) summary
      TIGR00585
      Location:6 → 315
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:502 → 756
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    2. NM_001167617.3 → NP_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/TrEMBL
      Q5GJ64
      Related
      ENSP00000402564.1, ENST00000435176.5
      Conserved Domains (2) summary
      pfam16413
      Location:404 → 658
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:4 → 217
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    3. NM_001167618.3 → NP_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/TrEMBL
      B7Z821
      Related
      ENSP00000398272.2, ENST00000455445.6
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    4. NM_001167619.3 → NP_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/TrEMBL
      B7Z821
      Related
      ENSP00000443665.1, ENST00000539477.6
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    5. NM_001258271.2 → NP_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/TrEMBL
      A0A669KBK2, H0Y818
      Related
      ENSP00000416687.3, ENST00000456676.7
      Conserved Domains (4) summary
      cd03483
      Location:211 → 335
      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:6 → 315
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:501 → 687
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl00075
      Location:31 → 132
      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_001258273.2 → NP_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/TrEMBL
      B7Z821
      Related
      ENSP00000444286.2, ENST00000536378.5
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    7. NM_001258274.3 → NP_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/TrEMBL
      B7Z821
      Related
      ENSP00000402667.2, ENST00000458205.6
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    8. NM_001354615.2 → NP_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
      UniProtKB/TrEMBL
      B7Z821
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    9. NM_001354616.2 → NP_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
      UniProtKB/TrEMBL
      B7Z821
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    10. NM_001354617.2 → NP_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
      UniProtKB/TrEMBL
      B7Z821
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    11. NM_001354618.2 → NP_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
      UniProtKB/TrEMBL
      B7Z821
      Related
      ENSP00000518946.1, ENST00000485889.2
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    12. NM_001354619.2 → NP_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
      UniProtKB/TrEMBL
      B7Z821
      Related
      ENSP00000501081.1, ENST00000674019.1
      Conserved Domains (3) summary
      cd03483
      Location:1 → 94
      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:261 → 515
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:19 → 186
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    13. NM_001354620.2 → NP_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
      UniProtKB/TrEMBL
      Q5GJ64
      Conserved Domains (2) summary
      pfam16413
      Location:404 → 658
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl28386
      Location:4 → 217
      MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]

    14. NM_001354621.2 → NP_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
      UniProtKB/TrEMBL
      A0AAQ5BGN3
      Conserved Domains (1) summary
      pfam16413
      Location:161 → 415
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    15. NM_001354622.2 → NP_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
      UniProtKB/TrEMBL
      A0AAQ5BGN3
      Related
      ENSP00000518979.1, ENST00000673990.2
      Conserved Domains (1) summary
      pfam16413
      Location:161 → 415
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    16. NM_001354623.2 → NP_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
      UniProtKB/TrEMBL
      A0AAQ5BGN3
      Conserved Domains (1) summary
      pfam16413
      Location:161 → 415
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    17. NM_001354624.2 → NP_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:144 → 398
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    18. NM_001354625.2 → NP_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:144 → 398
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    19. NM_001354626.2 → NP_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:144 → 398
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    20. NM_001354627.2 → NP_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:144 → 398
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    21. NM_001354628.2 → NP_001341557.1  DNA mismatch repair protein Mlh1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC006583, AC011816
      UniProtKB/TrEMBL
      A0A087WX20, B2R6K0, Q5GJ64
      Related
      ENSP00000480669.3, ENST00000616768.6
      Conserved Domains (2) summary
      TIGR00585
      Location:6 → 315
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:502 → 725
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    22. NM_001354629.2 → NP_001341558.1  DNA mismatch repair protein Mlh1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC006583, AC011816
      UniProtKB/TrEMBL
      A0AAQ5BGZ2, B2R6K0, Q5GJ64
      Related
      ENSP00000519108.1, ENST00000713802.1
      Conserved Domains (2) summary
      TIGR00585
      Location:6 → 282
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:469 → 723
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    23. NM_001354630.2 → NP_001341559.1  DNA mismatch repair protein Mlh1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC006583, AC011816
      UniProtKB/TrEMBL
      A0A669KAW3, B2R6K0, Q5GJ64
      Related
      ENSP00000500979.2, ENST00000673673.2
      Conserved Domains (2) summary
      TIGR00585
      Location:6 → 315
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:502 → 701
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      36993466..37050846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448155.1 → XP_047304111.1  DNA mismatch repair protein Mlh1 isoform X3

    2. XM_005265161.3 → XP_005265218.1  DNA mismatch repair protein Mlh1 isoform X2

      UniProtKB/TrEMBL
      B2R6K0, Q5GJ64
      Conserved Domains (4) summary
      TIGR00585
      Location:6 → 246
      mutl; DNA mismatch repair protein MutL
      pfam16413
      Location:432 → 687
      Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
      cl00075
      Location:31 → 132
      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:227 → 266
      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 ...

    3. XM_047448152.1 → XP_047304108.1  DNA mismatch repair protein Mlh1 isoform X1

    4. XM_047448153.1 → XP_047304109.1  DNA mismatch repair protein Mlh1 isoform X3

      Related
      ENSP00000518393.1, ENST00000492474.6

    5. XM_047448154.1 → XP_047304110.1  DNA mismatch repair protein Mlh1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      36994839..37052189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346568.1 → XP_054202543.1  DNA mismatch repair protein Mlh1 isoform X3

    2. XM_054346565.1 → XP_054202540.1  DNA mismatch repair protein Mlh1 isoform X2

    3. XM_054346564.1 → XP_054202539.1  DNA mismatch repair protein Mlh1 isoform X1

    4. XM_054346566.1 → XP_054202541.1  DNA mismatch repair protein Mlh1 isoform X3

    5. XM_054346567.1 → XP_054202542.1  DNA mismatch repair protein Mlh1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P40692.1 GenPept UniProtKB/Swiss-Prot:P40692

    Gene LinkOut

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