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
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
Show all 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
Protein-Protein network diagram for MLH1

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

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