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

Display region using the UCSC Genome Browser (GRCh38/hg38)

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
GO:0045141; meiotic telomere clustering
GO:0045190; isotype switching
GO:0045950; negative regulation of mitotic recombination
GO:0048477; oogenesis
GO:0051257; meiotic spindle midzone assembly

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

Hide GO terms

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

ORF: ORF
CDS: CDS

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