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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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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 |
Source | Count: 3; TAG,Generif,UniProt |
Literature support | Count: 1 PubMed records as below. |
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Evidence Status |
Description |
reviewed | The high agreement between AIP and MLH1 gene promoter methylation suggests that the inactivation of tumor suppressor genes and of the genes related to the control of cellular proliferation through this mechanism is involved in gallbladder carcinogenesis. |
| More detail of all 1 literatures about MLH1 | |
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Pathways and Diseases |
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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 |
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External Links |
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Links to Entrez Gene | 4292 |
Links to all GeneRIF Items | 4292 |
Links to iHOP | 4292 |
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Sequence Information |
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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 |