| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4292 |
Name | MLH1 |
Synonym | COCA2|FCC2|HNPCC|HNPCC2|hMLH1;mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli);MLH1;mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
Definition | DNA mismatch repair protein Mlh1|mutL protein homolog 1 |
Position | 3p21.3 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Mismatch repair;KEGG PATHWAY;hsa03430 |
Pathway | Pathways in cancer;KEGG PATHWAY;hsa05200 |
Pathway | Colorectal cancer;KEGG PATHWAY;hsa05210 |
Pathway | Endometrial cancer;KEGG PATHWAY;hsa05213 |
Pathway | Direct p53 effectors;PID Curated;200101 |
Disease | Colorectal cancer;KEGG DISEASE;H00020 |
Disease | hereditary non-polyposis colon cancer.;GAD |
Disease | inflammatory bowel disease;GAD |
Disease | Cancer;FunDO |
Disease | AGING;GAD |
Disease | Ulcerative colitis;FunDO |
Disease | Crohn's disease and ulcerative colitis;GAD |
Disease | HIV infection;FunDO |
Disease | lung cancer;GAD |
Disease | IMMUNE;GAD |
Disease | Colorectal cancer, hereditary nonpolyposis, type 2;OMIM |
Disease | functional differences;GAD |
Disease | colorectal cancer.;GAD |
Disease | Cancers of the digestive system;KEGG DISEASE |
Disease | colorectal cancer;GAD |
Disease | Drug abuse;FunDO |
Disease | longevity;GAD |
Disease | Gastritis;FunDO |
Disease | esophageal cancer;GAD |
Disease | Mismatch repair cancer syndrome;OMIM |
Disease | Ovarian cancer;KEGG DISEASE;H00027 |
Disease | Testicular dysfunction;FunDO |
Disease | Endometrial cancer;KEGG DISEASE;H00026 |
Disease | Cancers of the breast and female genital organs;KEGG DISEASE |
Disease | Cancers;KEGG DISEASE |
Disease | acute myeloid leukemia;GAD |
Disease | Enteritis;FunDO |
Disease | breast cancer;GAD |
Disease | CANCER;GAD |
Disease | Metaplastic polyp;FunDO |
Disease | Congenital abnormality;FunDO |
Disease | endometrial cancer;GAD |
Disease | Muir-Torre syndrome;OMIM |
Disease | ovarian cancer;GAD |
Disease | stomach cancer;GAD |
External Links | |
Links to Entrez Gene | 4292 |
Links to all GeneRIF Items | 4292 |
Links to iHOP | 4292 |
Sequence Information | |
Nucleotide Sequence | >4292 : length: 2271 atgtcgttcgtggcaggggttattcggcggctggacgagacagtggtgaaccgcatcgcg gcgggggaagttatccagcggccagctaatgctatcaaagagatgattgagaactgttta gatgcaaaatccacaagtattcaagtgattgttaaagagggaggcctgaagttgattcag atccaagacaatggcaccgggatcaggaaagaagatctggatattgtatgtgaaaggttc actactagtaaactgcagtcctttgaggatttagccagtatttctacctatggctttcga ggtgaggctttggccagcataagccatgtggctcatgttactattacaacgaaaacagct gatggaaagtgtgcatacagagcaagttactcagatggaaaactgaaagcccctcctaaa ccatgtgctggcaatcaagggacccagatcacggtggaggaccttttttacaacatagcc acgaggagaaaagctttaaaaaatccaagtgaagaatatgggaaaattttggaagttgtt ggcaggtattcagtacacaatgcaggcattagtttctcagttaaaaaacaaggagagaca gtagctgatgttaggacactacccaatgcctcaaccgtggacaatattcgctccatcttt ggaaatgctgttagtcgagaactgatagaaattggatgtgaggataaaaccctagccttc aaaatgaatggttacatatccaatgcaaactactcagtgaagaagtgcatcttcttactc ttcatcaaccatcgtctggtagaatcaacttccttgagaaaagccatagaaacagtgtat gcagcctatttgcccaaaaacacacacccattcctgtacctcagtttagaaatcagtccc cagaatgtggatgttaatgtgcaccccacaaagcatgaagttcacttcctgcacgaggag agcatcctggagcgggtgcagcagcacatcgagagcaagctcctgggctccaattcctcc aggatgtacttcacccagactttgctaccaggacttgctggcccctctggggagatggtt aaatccacaacaagtctgacctcgtcttctacttctggaagtagtgataaggtctatgcc caccagatggttcgtacagattcccgggaacagaagcttgatgcatttctgcagcctctg agcaaacccctgtccagtcagccccaggccattgtcacagaggataagacagatatttct agtggcagggctaggcagcaagatgaggagatgcttgaactcccagcccctgctgaagtg gctgccaaaaatcagagcttggagggggatacaacaaaggggacttcagaaatgtcagag aagagaggacctacttccagcaaccccagaaagagacatcgggaagattctgatgtggaa atggtggaagatgattcccgaaaggaaatgactgcagcttgtaccccccggagaaggatc attaacctcactagtgttttgagtctccaggaagaaattaatgagcagggacatgaggtt ctccgggagatgttgcataaccactccttcgtgggctgtgtgaatcctcagtgggccttg gcacagcatcaaaccaagttataccttctcaacaccaccaagcttagtgaagaactgttc taccagatactcatttatgattttgccaattttggtgttctcaggttatcggagccagca ccgctctttgaccttgccatgcttgccttagatagtccagagagtggctggacagaggaa gatggtcccaaagaaggacttgctgaatacattgttgagtttctgaagaagaaggctgag atgcttgcagactatttctctttggaaattgatgaggaagggaacctgattggattaccc cttctgattgacaactatgtgccccctttggagggactgcctatcttcattcttcgacta gccactgaggtgaattgggacgaagaaaaggaatgttttgaaagcctcagtaaagaatgc gctatgttctattccatccggaagcagtacatatctgaggagtcgaccctctcaggccag cagagtgaagtgcctggctccattccaaactcctggaagtggactgtggaacacattgtc tataaagccttgcgctcacacattctgcctcctaaacatttcacagaagatggaaatatc ctgcagcttgctaacctgcctgatctatacaaagtctttgagaggtgttaa |
Protein Sequence | >4292 : length: 756 MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQ IQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTA DGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVV GRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISP QNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGPSGEMV KSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDIS SGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWAL AQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEE DGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRL ATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIV YKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC |