Logo
full name
mutL homolog 1

synonyms
COCA2, FCC2, hMLH1, HNPCC, HNPCC2, MLH1, ENSG00000076242

HGNC
HGNC:7127

Entrez Gene
Gene:4292

ENSEMBL
ENSG00000076242

location
chr: 3
start: 37034841
stop: 37092337
strand: +

OMIM
OMIM:120436: MLH1 (Autosomal dominant inheritance)
OMIM:609310: Colorectal cancer, hereditary nonpolyposis, type 2
OMIM:276300: Mismatch repair cancer syndrome
OMIM:158320: Muir-Torre syndrome

transcripts
NM_000249.3
NM_001258271.1
NM_001258273.1
NM_001258274.1
NM_001167619.1
NM_001167617.1
NM_001167618.1

pathways
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Colorectal cancer [NCBI:83106] [KEGG:hsa05210] [PUBMED:15479695] [PUBMED:11459867] [PUBMED:9196022] [PUBMED:11170304] [PUBMED:12951588] [PUBMED:15349822] [PUBMED:15711891] [PUBMED:16042571] [PUBMED:15000146] [PUBMED:12737309] [PUBMED:10505543] [PUBMED:11078609] [PUBMED:11223406] [PUBMED:16326109] [PUBMED:16699851] [PUBMED:11477132] [PUBMED:12621137] [PUBMED:15573119] [PUBMED:16555243] [PUBMED:15310786]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
Direct p53 effectors [NCBI:137939] [Pathway Interaction Database:p53downstreampathway] [PUBMED:7479001] [PUBMED:19626115] [PUBMED:10692390] [PUBMED:15289308] [PUBMED:14688482] [PUBMED:16301995] [PUBMED:11850816] [PUBMED:12370809] [PUBMED:16260627] [PUBMED:15186775] [PUBMED:15580302] [PUBMED:10748162] [PUBMED:10919640] [PUBMED:19011621] [PUBMED:12438652] [PUBMED:11559530] [PUBMED:11641774] [PUBMED:11971958] [PUBMED:9659898] [PUBMED:9343394] [PUBMED:10716435] [PUBMED:17146433] [PUBMED:17719542] [PUBMED:17938176] [PUBMED:17409421] [PUBMED:11032029] [PUBMED:15781865] [PUBMED:11463392] [PUBMED:9736732] [PUBMED:17268548] [PUBMED:8570655] [PUBMED:18046411] [PUBMED:12944906] [PUBMED:16249378] [PUBMED:15273740] [PUBMED:15598651] [PUBMED:10618379] [PUBMED:15958553] [PUBMED:17189187] [PUBMED:17145718] [PUBMED:11988847] [PUBMED:8119988] [PUBMED:12089322] [PUBMED:16286009] [PUBMED:12890671] [PUBMED:12402042] [PUBMED:10618714] [PUBMED:14730312] [PUBMED:12857899] [PUBMED:14963330] [PUBMED:11278953] [PUBMED:11973653] [PUBMED:12692263] [PUBMED:10984493] [PUBMED:10640990] [PUBMED:11545734] [PUBMED:16151013] [PUBMED:12372430] [PUBMED:16651407] [PUBMED:9891062] [PUBMED:12606722] [PUBMED:12453409] [PUBMED:15377670] [PUBMED:12667443] [PUBMED:17707234] [PUBMED:9920903] [PUBMED:14992722] [PUBMED:15790310] [PUBMED:15831478] [PUBMED:11314010] [PUBMED:10329733] [PUBMED:17264218] [PUBMED:11511362] [PUBMED:11919562] [PUBMED:11814693] [PUBMED:17554199] [PUBMED:18250150] [PUBMED:10518217] [PUBMED:10891498] [PUBMED:10973264] [PUBMED:15077116] [PUBMED:16230375] [PUBMED:18485870] [PUBMED:7796420] [PUBMED:15710382] [PUBMED:17409411] [PUBMED:8319905] [PUBMED:10684646] [PUBMED:7566179] [PUBMED:8887630] [PUBMED:11807984] [PUBMED:9841917] [PUBMED:12654245] [PUBMED:9023107] [PUBMED:15103385] [PUBMED:11684014] [PUBMED:17110336] [PUBMED:11278253] [PUBMED:14576823] [PUBMED:8418500] [PUBMED:11350971] [PUBMED:11840333] [PUBMED:7651818] [PUBMED:7651386] [PUBMED:15378026] [PUBMED:15607964] [PUBMED:11279192] [PUBMED:10777218] [PUBMED:15334053] [PUBMED:12138177] [PUBMED:9619826] [PUBMED:16278683] [PUBMED:17189186] [PUBMED:16140933] [PUBMED:10094469] [PUBMED:9926927] [PUBMED:17719541] [PUBMED:15735003] [PUBMED:12853982] [PUBMED:14707288] [PUBMED:10777207]
Endometrial cancer [NCBI:83109] [KEGG:hsa05213] [PUBMED:14747944] [PUBMED:11431710] [PUBMED:7585656] [PUBMED:16508724] [PUBMED:15284264] [PUBMED:17028294] [PUBMED:16248975] [PUBMED:15947972]
Fanconi anemia pathway [NCBI:377262] [KEGG:hsa03460] [PUBMED:19805513] [PUBMED:18518821] [PUBMED:18047734] [PUBMED:20039786] [PUBMED:21701511] [PUBMED:20064461]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Meiosis [NCBI:1269865] [REACTOME:R-HSA-1500620] [PUBMED:20051984] [PUBMED:20364103] [PUBMED:16543383] [PUBMED:18948708]
Meiotic recombination [NCBI:1269866] [REACTOME:R-HSA-912446] [PUBMED:16543383] [PUBMED:20364103] [PUBMED:20051984]
Mismatch Repair [NCBI:1270411] [REACTOME:R-HSA-5358508] [PUBMED:19138690] [PUBMED:23545421] [PUBMED:16464007] [PUBMED:20725617] [PUBMED:10072354] [PUBMED:18157157] [PUBMED:23572416]
Mismatch repair [NCBI:83045] [KEGG:hsa03430] [PUBMED:11436301] [PUBMED:18157157] [PUBMED:16612326] [PUBMED:11920679]
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) [NCBI:1270413] [REACTOME:R-HSA-5358606] [PUBMED:9677427] [PUBMED:11920679] [PUBMED:9294177] [PUBMED:9671718] [PUBMED:8805365]
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) [NCBI:1270412] [REACTOME:R-HSA-5358565] [PUBMED:9294177] [PUBMED:23391514] [PUBMED:9671718]
Pathways in cancer [NCBI:83105] [KEGG:hsa05200] [PUBMED:12244301] [PUBMED:15156182] [PUBMED:16899407] [PUBMED:12621137] [PUBMED:21193867] [PUBMED:16001072] [PUBMED:11707511] [PUBMED:11253051] [PUBMED:11071626] [PUBMED:17251915] [PUBMED:11736900] [PUBMED:16557281] [PUBMED:16699851] [PUBMED:16189702] [PUBMED:11902573] [PUBMED:16555243] [PUBMED:8069858] [PUBMED:15310786] [PUBMED:9834202] [PUBMED:16700615] [PUBMED:12545153] [PUBMED:15656799] [PUBMED:12154354] [PUBMED:11895903] [PUBMED:11527574] [PUBMED:16326109] [PUBMED:16339096] [PUBMED:11160144] [PUBMED:15724144] [PUBMED:12951584] [PUBMED:10647931] [PUBMED:16881963] [PUBMED:15557758] [PUBMED:11477132] [PUBMED:15721476] [PUBMED:15625120] [PUBMED:16236521] [PUBMED:14967450] [PUBMED:15942304] [PUBMED:17287871] [PUBMED:14634372] [PUBMED:15573119] [PUBMED:15009714] [PUBMED:16112428] [PUBMED:15611513] [PUBMED:16001050] [PUBMED:15349822] [PUBMED:16551846] [PUBMED:15978322] [PUBMED:15774796] [PUBMED:16352814] [PUBMED:12951588] [PUBMED:10944551] [PUBMED:10740269] [PUBMED:15639402] [PUBMED:12407699] [PUBMED:11130178] [PUBMED:15109562] [PUBMED:11170304] [PUBMED:11276000] [PUBMED:9643506] [PUBMED:16248975] [PUBMED:16242838] [PUBMED:12946833] [PUBMED:11559746] [PUBMED:9196022] [PUBMED:12079267] [PUBMED:15468170] [PUBMED:16064138] [PUBMED:14580692] [PUBMED:15082523] [PUBMED:15551095] [PUBMED:17062879] [PUBMED:17211469] [PUBMED:11720739] [PUBMED:12588368] [PUBMED:11057895] [PUBMED:9422516] [PUBMED:12894244] [PUBMED:15479695] [PUBMED:16189154] [PUBMED:12878745] [PUBMED:11900250] [PUBMED:11103787] [PUBMED:15122209] [PUBMED:12711111] [PUBMED:12243753] [PUBMED:16306523] [PUBMED:16702400] [PUBMED:15270885] [PUBMED:14685170] [PUBMED:14586404] [PUBMED:11078609] [PUBMED:15284264] [PUBMED:10505543] [PUBMED:11223406] [PUBMED:14982876] [PUBMED:12648469] [PUBMED:12867060] [PUBMED:15711891] [PUBMED:12094241] [PUBMED:16642045] [PUBMED:11463388] [PUBMED:12762887] [PUBMED:15746962] [PUBMED:15823750] [PUBMED:16750612] [PUBMED:16484590] [PUBMED:11459867] [PUBMED:16146838] [PUBMED:14556242] [PUBMED:15947972] [PUBMED:12563308] [PUBMED:16946003] [PUBMED:15948971] [PUBMED:11407945] [PUBMED:12737309] [PUBMED:16095998] [PUBMED:12351585] [PUBMED:24508914] [PUBMED:12084351] [PUBMED:11807782] [PUBMED:14695152] [PUBMED:10453277] [PUBMED:17554387] [PUBMED:15841168] [PUBMED:12616528] [PUBMED:10403855] [PUBMED:16054233] [PUBMED:16474624] [PUBMED:16822996] [PUBMED:17028294] [PUBMED:11224709] [PUBMED:11750244] [PUBMED:11905738] [PUBMED:15719031] [PUBMED:10843728] [PUBMED:16110317] [PUBMED:11721960] [PUBMED:12741677] [PUBMED:7585656] [PUBMED:12801837] [PUBMED:16551847] [PUBMED:12459728] [PUBMED:11431710] [PUBMED:12468433] [PUBMED:11165748] [PUBMED:16042571] [PUBMED:16508724] [PUBMED:15000146] [PUBMED:17149381] [PUBMED:15948711] [PUBMED:14747944] [PUBMED:14737121] [PUBMED:12379883] [PUBMED:17158541] [PUBMED:12850530] [PUBMED:10835690] [PUBMED:16870043]
Platinum drug resistance [NCBI:1404797] [KEGG:hsa01524] [PUBMED:24074238] [PUBMED:26867799] [PUBMED:14609433] [PUBMED:26184483] [PUBMED:24874729] [PUBMED:15607932] [PUBMED:25546083] [PUBMED:25058905] [PUBMED:19190080] [PUBMED:14576837] [PUBMED:20811617] [PUBMED:21892204] [PUBMED:20647037] [PUBMED:17336087] [PUBMED:26886018] [PUBMED:23442359] [PUBMED:17625587]
TP53 Regulates Transcription of DNA Repair Genes [NCBI:1383075] [REACTOME:R-HSA-6796648] [PUBMED:10984493] [PUBMED:25712099] [PUBMED:22988298] [PUBMED:12771027] [PUBMED:23139867] [PUBMED:11971958] [PUBMED:22012619] [PUBMED:11988847] [PUBMED:9858527] [PUBMED:26773055] [PUBMED:15781865] [PUBMED:11350971] [PUBMED:25429106] [PUBMED:12170774] [PUBMED:20096807] [PUBMED:18187580] [PUBMED:9063748] [PUBMED:24662513]
Transcriptional Regulation by TP53 [NCBI:1269654] [REACTOME:R-HSA-3700989] [PUBMED:26122615] [PUBMED:19410540]