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

Gene ID: 17350, updated on 28-May-2016
Official Symbol
Mlh1provided by MGI
Official Full Name
mutL homolog 1provided by MGI
Primary source
MGI:MGI:101938
See related
Ensembl:ENSMUSG00000032498 Vega:OTTMUSG00000031784
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
AI317206; AI325952; AI561766; 1110035C23Rik
Orthologs
Location:
9 F3; 9 60.92 cM
Exon count:
22
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 9 NC_000075.6 (111228228..111271786, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (111130732..111174112, complement)

Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31, pseudogene 19 Neighboring gene leucine rich repeat (in FLII) interacting protein 2 Neighboring gene predicted gene, 35979 Neighboring gene EPM2A (laforin) interacting protein 1 Neighboring gene predicted gene, 40580

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to MutSalpha complex binding ISO
Inferred from Sequence Orthology
more info
 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
guanine/thymine mispair binding IGI
Inferred from Genetic Interaction
more info
PubMed 
guanine/thymine mispair binding ISO
Inferred from Sequence Orthology
more info
 
mismatched DNA binding IEA
Inferred from Electronic Annotation
more info
 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to single-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IGI
Inferred from Genetic Interaction
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
PubMed 
female meiosis chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
homologous chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
isotype switching IMP
Inferred from Mutant Phenotype
more info
PubMed 
leptotene IMP
Inferred from Mutant Phenotype
more info
PubMed 
male meiosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
male meiosis chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
meiotic chromosome segregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
meiotic metaphase I plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
meiotic nuclear division IDA
Inferred from Direct Assay
more info
PubMed 
meiotic nuclear division TAS
Traceable Author Statement
more info
PubMed 
meiotic spindle midzone assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
meiotic telomere clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
mismatch repair IDA
Inferred from Direct Assay
more info
PubMed 
mismatch repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
mismatch repair ISO
Inferred from Sequence Orthology
more info
PubMed 
negative regulation of mitotic recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear-transcribed mRNA poly(A) tail shortening IMP
Inferred from Mutant Phenotype
more info
PubMed 
oogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
reciprocal meiotic recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
resolution of meiotic recombination intermediates IMP
Inferred from Mutant Phenotype
more info
PubMed 
somatic hypermutation of immunoglobulin genes IMP
Inferred from Mutant Phenotype
more info
PubMed 
somatic recombination of immunoglobulin gene segments IMP
Inferred from Mutant Phenotype
more info
PubMed 
somatic recombination of immunoglobulin genes involved in immune response IGI
Inferred from Genetic Interaction
more info
PubMed 
spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
synapsis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
MutLalpha complex IDA
Inferred from Direct Assay
more info
PubMed 
chiasma IDA
Inferred from Direct Assay
more info
PubMed 
chromosome IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
male germ cell nucleus IDA
Inferred from Direct Assay
more info
PubMed 
membrane ISO
Inferred from Sequence Orthology
more info
 
nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
nucleus ISO
Inferred from Sequence Orthology
more info
 
synaptonemal complex IDA
Inferred from Direct Assay
more info
PubMed 
synaptonemal complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Preferred Names
DNA mismatch repair protein Mlh1
Names
colon cancer, nonpolyposis type 2
mutL protein homolog 1

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
  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
    Q9JK91
    Related
    ENSMUSP00000035079, OTTMUSP00000041918, ENSMUST00000035079, OTTMUST00000078764
    Conserved Domains (3) summary
    cd00075
    Location:31122
    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
    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

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000075.6 Reference GRCm38.p3 C57BL/6J

    Range
    111228228..111271786 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006511951.2XP_006512014.1  

    Conserved Domains (1) summary
    PRK11829
    Location:125207
    PRK11829; biofilm formation regulator HmsP; Provisional
  2. XM_006511947.2XP_006512010.1  

    Conserved Domains (2) summary
    COG0323
    Location:2450
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
  3. XM_006511948.2XP_006512011.1  

    See identical proteins and their annotated locations for XP_006512011.1

    Conserved Domains (2) summary
    COG0323
    Location:2450
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    cd03483
    Location:194
    MutL_Trans_MLH1; MutL_Trans_MLH1: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to yeast and human MLH1 (MutL homologue 1). This transducer domain is homologous to the second domain of the DNA gyrase B subunit, which is known to ...
  4. XM_006511949.2XP_006512012.1  

    See identical proteins and their annotated locations for XP_006512012.1

    Conserved Domains (1) summary
    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_011242935.1XP_011241237.1  

    Conserved Domains (2) summary
    cd03483
    Location:164288
    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:23268
    mutl; DNA mismatch repair protein MutL
  6. XM_006511946.2XP_006512009.1  

    Conserved Domains (2) summary
    COG0323
    Location:25451
    MutL; DNA mismatch repair ATPase MutL [Replication, recombination and repair]
    cl02783
    Location:2495
    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 ...
  7. XM_006511950.2XP_006512013.1  

    See identical proteins and their annotated locations for XP_006512013.1

    Conserved Domains (1) summary
    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_379848.2 RNA Sequence

  2. XR_379849.2 RNA Sequence

Alternate Mm_Celera

Genomic

  1. AC_000031.1 Alternate Mm_Celera

    Range
    110951307..110994774 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)