Version 5.4
Homo sapiens Gene: MLH1
Summary
InnateDB Gene IDBG-24600.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MLH1
Gene Name mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Synonyms COCA2; FCC2; hMLH1; HNPCC; HNPCC2
Species Homo sapiens
Ensembl Gene ENSG00000076242
Encoded Proteins
IDBP-24602
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371018
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371019
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371022
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371024
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371050
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371052
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371053
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371057
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371058
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371066
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371074
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371075
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371076
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371078
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-371080
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-590445
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-593832
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
IDBP-809812
mutL homolog 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:36993332-37050918
Strand Forward strand
Band p22.2
Transcripts
ENST00000231790 ENSP00000231790
ENST00000457004 ENSP00000407773
ENST00000432299 ENSP00000416783
ENST00000442249 ENSP00000387511
ENST00000454028 ENSP00000392649
ENST00000456676 ENSP00000416687
ENST00000458205 ENSP00000402667
ENST00000455445 ENSP00000398272
ENST00000435176 ENSP00000402564
ENST00000441265 ENSP00000398392
ENST00000429117 ENSP00000407019
ENST00000447829 ENSP00000399329
ENST00000458009 ENSP00000411066
ENST00000413212 ENSP00000400844
ENST00000413740 ENSP00000416476
ENST00000450420 ENSP00000393006
ENST00000476172
ENST00000492474
ENST00000466900
ENST00000485889
ENST00000536378 ENSP00000444286
ENST00000539477 ENSP00000443665
ENST00000616768 ENSP00000480669
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 151 experimentally validated interaction(s) in this database.
Experimentally validated
Total 151 [view]
Protein-Protein 144 [view]
Protein-DNA 7 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003697 single-stranded DNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0030983 mismatched DNA binding
GO:0032137 guanine/thymine mispair binding
GO:0032407 MutSalpha complex binding
GO:0043566 structure-specific DNA binding
Biological Process
GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening
GO:0000712 resolution of meiotic recombination intermediates
GO:0002204 somatic recombination of immunoglobulin genes involved in immune response
GO:0006200 ATP catabolic process
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:0007060 male meiosis chromosome segregation
GO:0007129 synapsis
GO:0007131 reciprocal meiotic recombination
GO:0007140 male meiosis
GO:0007283 spermatogenesis
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0016446 somatic hypermutation of immunoglobulin genes
GO:0016447 somatic recombination of immunoglobulin gene segments
GO:0043060 meiotic metaphase I plate congression
GO:0045132 meiotic chromosome segregation
GO:0045190 isotype switching
GO:0045950 negative regulation of mitotic recombination
GO:0048477 oogenesis
GO:0051257 spindle midzone assembly involved in meiosis
Cellular Component
GO:0000793 condensed chromosome
GO:0000794 condensed nuclear chromosome
GO:0000795 synaptonemal complex
GO:0001673 male germ cell nucleus
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005712 chiasma
GO:0016020 membrane
GO:0032300 mismatch repair complex
GO:0032389 MutLalpha complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032498
View Gene Order
ENSBTAG00000016758
Not yet available
Pathways
NETPATH
REACTOME
REACT_27271
Meiotic recombination pathway
REACT_115566
Cell Cycle pathway
REACT_228145
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway
REACT_228019
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathway
REACT_228013
Mismatch Repair pathway
REACT_111183
Meiosis pathway
REACT_216
DNA Repair pathway
KEGG
hsa05210
Colorectal cancer pathway
hsa05213
Endometrial cancer pathway
hsa03430
Mismatch repair pathway
hsa05200
Pathways in cancer pathway
INOH
PID NCI
p53downstreampathway
Direct p53 effectors
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 4292
UniGene Hs.195364
RefSeq NM_000249 NM_001167617 NM_001167618 NM_001167619 NM_001258271 NM_001258273 NM_001258274 XM_005265163 XM_005265164
HUGO HGNC:7127
OMIM 120436
CCDS CCDS2663 CCDS54562 CCDS54563
HPRD 00390
IMGT
EMBL
GenPept
RNA Seq Atlas 4292

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca