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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
p22.2
Chromosome location (bp)
36993350 - 37050846
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, DNA damage, DNA repair
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P40692 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000289[nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712[resolution of meiotic recombination intermediates] GO:0000793[condensed chromosome] GO:0000794[condensed nuclear chromosome] GO:0000795[synaptonemal complex] GO:0001673[male germ cell nucleus] GO:0002204[somatic recombination of immunoglobulin genes involved in immune response] GO:0003682[chromatin binding] GO:0003697[single-stranded DNA binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005712[chiasma] GO:0005715[late recombination nodule] GO:0006281[DNA repair] GO:0006298[mismatch repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007060[male meiosis chromosome segregation] GO:0007129[homologous chromosome pairing at meiosis] GO:0007131[reciprocal meiotic recombination] GO:0007140[male meiotic nuclear division] GO:0007283[spermatogenesis] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009617[response to bacterium] GO:0016020[membrane] GO:0016321[female meiosis chromosome segregation] GO:0016446[somatic hypermutation of immunoglobulin genes] GO:0016447[somatic recombination of immunoglobulin gene segments] GO:0016887[ATP hydrolysis activity] GO:0019899[enzyme binding] GO:0030983[mismatched DNA binding] GO:0032137[guanine/thymine mispair binding] GO:0032300[mismatch repair complex] GO:0032389[MutLalpha complex] GO:0032407[MutSalpha complex binding] GO:0043060[meiotic metaphase I plate congression] GO:0045132[meiotic chromosome segregation] GO:0045141[meiotic telomere clustering] GO:0045143[homologous chromosome segregation] GO:0045190[isotype switching] GO:0045950[negative regulation of mitotic recombination] GO:0048298[positive regulation of isotype switching to IgA isotypes] GO:0048304[positive regulation of isotype switching to IgG isotypes] GO:0048477[oogenesis] GO:0051257[meiotic spindle midzone assembly] GO:0051321[meiotic cell cycle] GO:0140664[ATP-dependent DNA damage sensor activity]
H0Y806 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
C9JZ54 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
P40692 [Direct mapping] DNA mismatch repair protein Mlh1
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
E7EUC9 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
H0Y4N0 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
P40692 [Direct mapping] DNA mismatch repair protein Mlh1
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A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
H0Y818 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
P40692 [Direct mapping] DNA mismatch repair protein Mlh1
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A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
P40692 [Direct mapping] DNA mismatch repair protein Mlh1
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A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
P40692 [Direct mapping] DNA mismatch repair protein Mlh1
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A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
A0A087WX20 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
A0A669KAW3 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
A0A669KBK2 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
A0A669KB03 [Direct mapping] DNA mismatch repair protein Mlh1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Protein evidence (Ezkurdia et al 2014)
P40692 [Direct mapping] DNA mismatch repair protein Mlh1
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A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of the breast and female genital organs Other diseases Others Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
