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Mlh3 mutL homolog 3 [ Mus musculus (house mouse) ]

Gene ID: 217716, updated on 9-Mar-2023

Summary

Official Symbol
Mlh3provided by MGI
Official Full Name
mutL homolog 3provided by MGI
Primary source
MGI:MGI:1353455
See related
Ensembl:ENSMUSG00000021245 AllianceGenome:MGI:1353455
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
Summary
Enables centromeric DNA binding activity and chromatin binding activity. Acts upstream of or within meiotic nuclear division; mismatch repair; and protein localization. Located in chiasma; male germ cell nucleus; and synaptonemal complex. Part of mismatch repair complex. Is expressed in brain; early conceptus; ileum; reproductive system; and trigeminal nerve. Human ortholog(s) of this gene implicated in Lynch syndrome; colorectal cancer; endometrial cancer; and hereditary nonpolyposis colorectal cancer type 7. Orthologous to human MLH3 (mutL homolog 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 2.6), testis adult (RPKM 2.4) and 27 other tissues See more
Orthologs
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Genomic context

See Mlh3 in Genome Data Viewer
Location:
12; 12 D1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (85281240..85317421, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (85234466..85270647, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase (ubiquinone) 1 beta subcomplex 3 pseudogene Neighboring gene eukaryotic translation initiation factor 2B, subunit 2 beta Neighboring gene microRNA 6938 Neighboring gene 40S ribosomal protein S25 pseudogene Neighboring gene zinc finger, C2HC-type containing 1C Neighboring gene acylphosphatase 1, erythrocyte (common) type Neighboring gene NIMA (never in mitosis gene a)-related expressed kinase 9

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)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC100285

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables centromeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in chiasma IDA
Inferred from Direct Assay
more info
PubMed 
located_in condensed chromosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in condensed nuclear chromosome 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of mismatch repair complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in synaptonemal complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA mismatch repair protein Mlh3
Names
mutL 3

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_001304475.1NP_001291404.1  DNA mismatch repair protein Mlh3

    See identical proteins and their annotated locations for NP_001291404.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK132195, BC079861, BE993968
    Consensus CDS
    CCDS36497.1
    UniProtKB/TrEMBL
    Q3V1X3, Q68FG1
    Related
    ENSMUSP00000129900.2, ENSMUST00000166821.8
    Conserved Domains (3) summary
    smart00853
    Location:11531333
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
    cd16926
    Location:12192
    HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
  2. NM_175337.2NP_780546.1  DNA mismatch repair protein Mlh3

    See identical proteins and their annotated locations for NP_780546.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK035887, BC079861, BE993968
    Consensus CDS
    CCDS36497.1
    UniProtKB/TrEMBL
    Q68FG1, Q8BZC3
    Related
    ENSMUSP00000019378.7, ENSMUST00000019378.8
    Conserved Domains (3) summary
    smart00853
    Location:11531333
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
    cd16926
    Location:12192
    HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    85281240..85317421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006515703.4XP_006515766.1  DNA mismatch repair protein Mlh3 isoform X1

    See identical proteins and their annotated locations for XP_006515766.1

    UniProtKB/TrEMBL
    A0A1Y7VMP7
    Related
    ENSMUSP00000152840.2, ENSMUST00000220854.2
    Conserved Domains (3) summary
    smart00853
    Location:11851365
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
    cd16926
    Location:12192
    HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
  2. XM_036157329.1XP_036013222.1  DNA mismatch repair protein Mlh3 isoform X2

    UniProtKB/TrEMBL
    Q68FG1
    Conserved Domains (3) summary
    smart00853
    Location:11531333
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
    cd16926
    Location:12192
    HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
  3. XM_006515704.5XP_006515767.1  DNA mismatch repair protein Mlh3 isoform X1

    See identical proteins and their annotated locations for XP_006515767.1

    UniProtKB/TrEMBL
    A0A1Y7VMP7
    Conserved Domains (3) summary
    smart00853
    Location:11851365
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
    cd16926
    Location:12192
    HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
  4. XM_006515706.5XP_006515769.1  DNA mismatch repair protein Mlh3 isoform X1

    See identical proteins and their annotated locations for XP_006515769.1

    UniProtKB/TrEMBL
    A0A1Y7VMP7
    Conserved Domains (3) summary
    smart00853
    Location:11851365
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
    cd16926
    Location:12192
    HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains
  5. XM_036157330.1XP_036013223.1  DNA mismatch repair protein Mlh3 isoform X2

    UniProtKB/TrEMBL
    Q68FG1
    Conserved Domains (3) summary
    smart00853
    Location:11531333
    MutL_C; MutL C terminal dimerisation domain
    cd03486
    Location:206349
    MutL_Trans_MLH3; transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH3 (MutL homologue 3). MLH3 belongs to the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is homologous to the second domain ...
    cd16926
    Location:12192
    HATPase_MutL-MLH-PMS-like; Histidine kinase-like ATPase domain of DNA mismatch repair proteins Escherichia coli MutL, human MutL homologs (MLH/ PMS), and related domains

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145446.1: Suppressed sequence

    Description
    NM_145446.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.