MLH1

MLH1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3RBN, 4P7A
Identifiers
Aliases	MLH1, mutL homolog 1, COCA2, FCC2, HNPCC, HNPCC2, hMLH1
External IDs	OMIM: 120436 MGI: 101938 HomoloGene: 208 GeneCards: MLH1
Gene ontology Molecular function • mismatched DNA binding • chromatin binding • single-stranded DNA binding • ATPase activity • protein binding • MutSalpha complex binding • ATP binding • guanine/thymine mispair binding Cellular component • chiasma • membrane • male germ cell nucleus • nucleoplasm • chromosome • condensed nuclear chromosome • synaptonemal complex • MutLalpha complex • nucleus • condensed chromosome • late recombination nodule Biological process • nuclear-transcribed mRNA poly(A) tail shortening • resolution of meiotic recombination intermediates • somatic hypermutation of immunoglobulin genes • reciprocal meiotic recombination • meiotic telomere clustering • male meiosis • meiotic metaphase I plate congression • homologous chromosome segregation • oogenesis • male meiosis chromosome segregation • cellular response to DNA damage stimulus • meiotic chromosome segregation • synapsis • isotype switching • spermatogenesis • intrinsic apoptotic signaling pathway in response to DNA damage • somatic recombination of immunoglobulin gene segments • negative regulation of mitotic recombination • somatic recombination of immunoglobulin genes involved in immune response • meiotic spindle midzone assembly • mismatch repair • cell cycle • meiotic nuclear division • double-strand break repair via nonhomologous end joining • female meiosis chromosome segregation • DNA repair • positive regulation of isotype switching to IgA isotypes • positive regulation of isotype switching to IgG isotypes Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4292	17350
Ensembl	ENSG00000076242	ENSMUSG00000032498
UniProt	P40692	Q9JK91
RefSeq (mRNA)	NM_000249 NM_001167617 NM_001167618 NM_001167619 NM_001258271 NM_001258273 NM_001258274	NM_026810 NM_001324522
RefSeq (protein)	NP_000240 NP_001161089 NP_001161090 NP_001161091 NP_001245200 NP_001245202 NP_001245203	NP_081086.2 NP_001311451 NP_081086
Location (UCSC)	Chr 3: 36.99 – 37.05 Mb	Chr 9: 111.23 – 111.27 Mb
PubMed search

3RBN, 4P7A

4292

17350

ENSG00000076242

ENSMUSG00000032498

P40692

Q9JK91

NM_001258273
NM_001258274

NM_026810
NM_001324522

NP_001245202
NP_001245203

NP_081086.2
NP_001311451
NP_081086

MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) is a protein that in humans is encoded by the MLH1 gene located on Chromosome 3. It is a gene 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.

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