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Mlh1 mutL homolog 1 [ Mus musculus (house mouse) ]

Gene ID: 17350, updated on 8-Feb-2024

Summary

Official Symbol
Mlh1provided by MGI
Official Full Name
mutL homolog 1provided by MGI
Primary source
MGI:MGI:101938
See related
Ensembl:ENSMUSG00000032498 AllianceGenome:MGI:101938
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1110035C23Rik
Summary
Enables chromatin binding activity and guanine/thymine mispair binding activity. Involved in positive regulation of isotype switching to IgA isotypes and positive regulation of isotype switching to IgG isotypes. Acts upstream of or within several processes, including gamete generation; meiotic nuclear division; and nucleic acid metabolic process. Located in condensed nuclear chromosome and male germ cell nucleus. Part of MutLalpha complex. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; oral epithelium; and respiratory system. Used to study Lynch syndrome. Human ortholog(s) of this gene implicated in Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer; mismatch repair cancer syndrome; and sporadic breast cancer. Orthologous to human MLH1 (mutL homolog 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 5.9), limb E14.5 (RPKM 4.8) and 28 other tissues See more
Orthologs
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Genomic context

See Mlh1 in Genome Data Viewer
Location:
9 F3; 9 60.92 cM
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (111057296..111100854, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (111228228..111271786, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53519 Neighboring gene leucine rich repeat (in FLII) interacting protein 2 Neighboring gene STARR-seq mESC enhancer starr_25288 Neighboring gene predicted gene, 57536 Neighboring gene predicted gene, 51692 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:111177746-111177899 Neighboring gene EPM2A interacting protein 1 Neighboring gene STARR-seq mESC enhancer starr_25291 Neighboring gene tetratricopeptide repeat and ankyrin repeat containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP-dependent DNA damage sensor activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to MutSalpha complex binding ISO
Inferred from Sequence Orthology
more info
 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables guanine/thymine mispair binding IGI
Inferred from Genetic Interaction
more info
PubMed 
enables guanine/thymine mispair binding ISO
Inferred from Sequence Orthology
more info
 
enables mismatched DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to single-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within DNA damage response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within female meiosis chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within homologous chromosome pairing at meiosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within homologous chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within isotype switching IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within leptotene IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within male meiosis chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within male meiotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within meiotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within meiotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within meiotic chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within meiotic metaphase I homologous chromosome alignment IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within meiotic spindle midzone assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within meiotic telomere clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within mismatch repair IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within mismatch repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mismatch repair ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within negative regulation of mitotic recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within nuclear-transcribed mRNA poly(A) tail shortening IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within oogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of isotype switching to IgA isotypes IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of isotype switching to IgG isotypes IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within reciprocal meiotic recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within resolution of meiotic recombination intermediates IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to bacterium IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in somatic hypermutation of immunoglobulin genes IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within somatic recombination of immunoglobulin genes involved in immune response IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of MutLalpha complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of MutLalpha complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chiasma IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in condensed chromosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in condensed chromosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in late recombination nodule IDA
Inferred from Direct Assay
more info
PubMed 
located_in male germ cell nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of mismatch repair complex IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in synaptonemal complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in synaptonemal complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001324522.1NP_001311451.1  DNA mismatch repair protein Mlh1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a frame-shifting alternate splice site in the 5' region and uses a downstream start codon, compared to variant 1. It encodes isoform 2 which lacks a large segment of the N-terminus, compared to isoform 1.
    Source sequence(s)
    AK163861, AK168849, BY327218
    UniProtKB/TrEMBL
    Q9CTA7
    Conserved Domains (3) summary
    PRK00095
    Location:19192
    mutL; DNA mismatch repair endonuclease MutL
    cd03483
    Location:194
    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 be important in ...
    pfam16413
    Location:265519
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  2. NM_026810.2NP_081086.2  DNA mismatch repair protein Mlh1 isoform 1

    See identical proteins and their annotated locations for NP_081086.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK145646, AK163861, BY327218
    Consensus CDS
    CCDS40784.1
    UniProtKB/Swiss-Prot
    Q3TG77, Q62454, Q9JK91
    UniProtKB/TrEMBL
    Q8VDI4
    Related
    ENSMUSP00000035079.4, ENSMUST00000035079.10
    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:505760
    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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    111057296..111100854 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036154640.1XP_036010533.1  DNA mismatch repair protein Mlh1 isoform X3

    UniProtKB/TrEMBL
    Q9CTA7
    Conserved Domains (3) summary
    PRK00095
    Location:37179
    mutL; DNA mismatch repair endonuclease MutL
    pfam16413
    Location:252506
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl02783
    Location:4281
    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_006511951.4XP_006512014.1  DNA mismatch repair protein Mlh1 isoform X4

    UniProtKB/TrEMBL
    Q9CTA7
    Conserved Domains (1) summary
    pfam16413
    Location:165419
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  3. XM_006511948.4XP_006512011.1  DNA mismatch repair protein Mlh1 isoform X2

    See identical proteins and their annotated locations for XP_006512011.1

    UniProtKB/TrEMBL
    Q9CTA7
    Conserved Domains (3) summary
    PRK00095
    Location:19192
    mutL; DNA mismatch repair endonuclease MutL
    cd03483
    Location:194
    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 be important in ...
    pfam16413
    Location:265519
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  4. XM_036154639.1XP_036010532.1  DNA mismatch repair protein Mlh1 isoform X3

    UniProtKB/TrEMBL
    Q9CTA7
    Conserved Domains (3) summary
    PRK00095
    Location:37179
    mutL; DNA mismatch repair endonuclease MutL
    pfam16413
    Location:252506
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl02783
    Location:4281
    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 ...
  5. XM_036154636.1XP_036010529.1  DNA mismatch repair protein Mlh1 isoform X2

    UniProtKB/TrEMBL
    Q9CTA7
    Conserved Domains (3) summary
    PRK00095
    Location:19192
    mutL; DNA mismatch repair endonuclease MutL
    cd03483
    Location:194
    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 be important in ...
    pfam16413
    Location:265519
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  6. XM_011242935.3XP_011241237.1  DNA mismatch repair protein Mlh1 isoform X1

    UniProtKB/TrEMBL
    Q8VDI4
    Conserved Domains (2) summary
    TIGR00585
    Location:23268
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:459713
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  7. XM_036154637.1XP_036010530.1  DNA mismatch repair protein Mlh1 isoform X3

    UniProtKB/TrEMBL
    Q9CTA7
    Conserved Domains (3) summary
    PRK00095
    Location:37179
    mutL; DNA mismatch repair endonuclease MutL
    pfam16413
    Location:252506
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl02783
    Location:4281
    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 ...
  8. XM_030244079.1XP_030099939.1  DNA mismatch repair protein Mlh1 isoform X1

    UniProtKB/TrEMBL
    Q8VDI4
    Conserved Domains (2) summary
    TIGR00585
    Location:23268
    mutl; DNA mismatch repair protein MutL
    pfam16413
    Location:459713
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
  9. XM_036154638.1XP_036010531.1  DNA mismatch repair protein Mlh1 isoform X3

    UniProtKB/TrEMBL
    Q9CTA7
    Conserved Domains (3) summary
    PRK00095
    Location:37179
    mutL; DNA mismatch repair endonuclease MutL
    pfam16413
    Location:252506
    Mlh1_C; DNA mismatch repair protein Mlh1 C-terminus
    cl02783
    Location:4281
    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 ...

RNA

  1. XR_379848.3 RNA Sequence

  2. XR_001778805.2 RNA Sequence

  3. XR_379849.4 RNA Sequence

  4. XR_004935331.1 RNA Sequence