GenAge entry for MLH1 (Homo sapiens)
Gene name (HAGRID: 243)
- HGNC symbol
- MLH1
- Aliases
- HNPCC; FCC2; HNPCC2; COCA2
- Common name
- mutL homolog 1
Potential relevance to the human ageing process
- Main reason for selection
- Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
- Description
MLH1 is involved in DNA mismatch repair. Mice without MLH1 are infertile and spermatocytes exhibit high levels of prematurely separated chromosomes and cell cycle arrest [1708]. In humans, MLH1 mutations have been associated with colon cancer [1709]. Polymorphisms in the human MLH1 gene have been associated with longevity [1705].
Cytogenetic information
- Cytogenetic band
- 3p21.3
- Location
- 36,993,350 bp to 37,050,846 bp
- Orientation
- Plus strand
Protein information
- Gene Ontology
-
Process: GO:0000289; nuclear-transcribed mRNA poly(A) tail shortening
GO:0000712; resolution of meiotic recombination intermediates
GO:0006298; mismatch repair
GO:0006303; double-strand break repair via nonhomologous end joining
GO:0007060; male meiosis chromosome segregation
GO:0007129; synapsis
GO:0007283; spermatogenesis
GO:0008630; intrinsic apoptotic signaling pathway in response to DNA damage
GO:0016321; female meiosis chromosome segregation
GO:0016446; somatic hypermutation of immunoglobulin genes
GO:0043060; meiotic metaphase I plate congression
And 6 more GO terms Cellular component: GO:0000795; synaptonemal complex
GO:0001673; male germ cell nucleus
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005712; chiasma
GO:0016020; membrane
GO:0032389; MutLalpha complex
Function: GO:0003682; chromatin binding
GO:0003697; single-stranded DNA binding
GO:0005515; protein binding
GO:0005524; ATP binding
GO:0016887; ATPase activity
GO:0032137; guanine/thymine mispair binding
GO:0032407; MutSalpha complex binding
Protein interactions and network
- Protein-protein interacting partners in GenAge
- ATM, TXN, MYC, NBN, BRCA1, BLM, EEF2, PRKDC, PCNA, AIFM1, GSTP1, ATF2, SQSTM1, SPRTN
- STRING interaction network
Retrieve sequences for MLH1
Homologs in model organisms
- Caenorhabditis elegans
- mlh-1
- Danio rerio
- mlh1
- Drosophila melanogaster
- Mlh1
- Mus musculus
- Mlh1
- Rattus norvegicus
- Mlh1
- Saccharomyces cerevisiae
- MLH1
- Schizosaccharomyces pombe
- mlh1
In other databases
- LongevityMap
- This gene is present as MLH1
Selected references
External links
- EPD
- ORF Accession
- NM_000249
- CDS Accession
- NP_000240
- OMIM
- 120436
- HPRD
- 00390
- Ensembl
- MLH1
- UniProt/Swiss-Prot
- MLH1_HUMAN
- GeneCards
- MLH1
- Entrez Gene
- 4292
- GenAtlas
- MLH1
- Internet
- Search Google