MLH1
Sign in to saveAlso known as mutL homolog 1, COCA2, FCC2, HNPCC, HNPCC2, hMLH1
DNA mismatch repair protein Mlh1 or MutL protein homolog 1 is a protein that in humans is encoded by the MLH1 gene located on chromosome 3. The gene is commonly associated with hereditary nonpolyposis colorectal cancer. Orthologs of human MLH1 have also been studied in other organisms including mouse and the budding yeast Saccharomyces cerevisiae.
Gene data
MLH1- Name
- mutL homolog 1
- Type
- protein-coding
- Position
- 36,993,226–37,050,896 (+)
- Aliases
- COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1, MMRCS1, hMLH1
- Ensembl
- ENSG00000076242
- RefSeq RNA
- NM_000249.4, NM_001167617.3, NM_001167618.3, NM_001167619.3, NM_001258271.2
- RefSeq protein
- NP_000240.1, NP_001161089.1, NP_001161090.1, NP_001161091.1, NP_001245200.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
mutL homolog 1
- Symbol
- MLH1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:36,992,834-37,051,505
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 208
- exact match
- identifiers.org/ncbigene/4292
- cytogenetic location
- 3p22.2
- genomic start
- 36993466
- genomic end
- 37050846
Sources (7)
via Wikidata · CC0
~10 min read
Article
13 sectionsContents
- Function
- Role in DNA mismatch repair
- Deficient expression in cancer
- Epigenetic repression
- Deficiency in field defects
- Repression in coordination with other DNA repair genes
- Meiosis
- Clinical significance
- Interactions
- See also
- References
- Further reading
- External links
DNA mismatch repair protein Mlh1 or MutL protein homolog 1 is a protein that in humans is encoded by the MLH1 gene located on chromosome 3. The gene is commonly associated with hereditary nonpolyposis colorectal cancer. Orthologs of human MLH1 have also been studied in other organisms including mouse and the budding yeast Saccharomyces cerevisiae.
== Function ==