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MLH1 mutL homolog 1 [ Homo sapiens (human) ]

Gene ID: 4292, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (36993466..37050846)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (36994839..37052189)
105.20220307 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. Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger. Hitchins MP, et al. J Natl Compr Canc Netw, 2023 Jul. PMID 37433431
  2. MLH1 Loss in Primary Prostate Cancer. Nourmohammadi Abadchi S, et al. JCO Precis Oncol, 2023 May. PMID 37196219,
  3. Association of MLH1-93G>A polymorphisms toward lung cancer susceptibility and its association with clinical outcome in North Indian patients treated with platinum-based chemotherapy. Singh S, et al. J Cancer Res Ther, 2023 Apr. PMID 37147951
  4. Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer. Mahdouani M, et al. PLoS One, 2022. PMID 36454741, Free PMC Article
  5. A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants. Rath A, et al. Hum Mutat, 2022 Dec. PMID 36054288, Free PMC Article

See all (1077) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. [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].
  3. 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.
  4. 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.
  5. 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.
  6. Role of MLH1 and MSH2 deficiency in the development of tumorigenesis and chemo-tolerance of cervical Carcinoma: Clinical implications.
    Title: Role of MLH1 and MSH2 deficiency in the development of tumorigenesis and chemo-tolerance of cervical Carcinoma: Clinical implications.
  7. [Comprehensive assessment of mismatch repair and microsatellite instability status in molecular classification of endometrial carcinoma].
    Title: [Comprehensive assessment of mismatch repair and microsatellite instability status in molecular classification of endometrial carcinoma].
  8. Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study.
    Title: Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study.
  9. Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.
    Title: Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.
  10. MLH1 rs1800734 Pathogenic Variant among Patients with Colorectal Cancer in the Lower Northeastern Region of Thailand.
    Title: MLH1 rs1800734 Pathogenic Variant among Patients with Colorectal Cancer in the Lower Northeastern Region of Thailand.
Submit: New GeneRIF Correction See all GeneRIFs (777)

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)

Genotypes

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
  
contributes_to protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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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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
    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
    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
    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
    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
    B2R6K0, Q5GJ64
    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_2023_10

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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