MLH1 angl MutL homolog 1 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 3 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 756 aminokislot a molekulyarna masa 84 601 5 MLH1Nayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB3RBN 4P7AIdentifikatoriSimvoliMLH1 mutL homolog 1 COCA2 FCC2 HNPCC HNPCC2 hMLH1Zovnishni ID OMIM 120436 MGI 101938 HomoloGene 208 GeneCards MLH1Pov yazani genetichni zahvoryuvannyamismatch repair cancer syndrome Sindrom Muyir Torre kolorektalnij rak large intestine cancer colon carcinoma Spadkovij nepolipoznij kolorektalnij rak 1 Ontologiya genaMolekulyarna funkciya mismatched DNA binding chromatin binding single stranded DNA binding ATPase activity GO 0001948 GO 0016582 protein binding MutSalpha complex binding ATP binding guanine thymine mispair binding nucleotide binding enzyme bindingKlitinna komponenta chiasma membrana male germ cell nucleus Nukleoplazma hromosoma condensed nuclear chromosome synaptonemal complex MutLalpha complex klitinne yadro condensed chromosome late recombination nodule mismatch repair complexBiologichnij proces nuclear transcribed mRNA poly A tail shortening resolution of meiotic recombination intermediates somatic hypermutation of immunoglobulin genes reciprocal meiotic recombination meiotic telomere clustering male meiotic nuclear division meiotic metaphase I plate congression homologous chromosome segregation Oogenez male meiosis chromosome segregation cellular response to DNA damage stimulus meiotic chromosome segregation homologous chromosome pairing at meiosis Peremikannya klasu imunoglobuliniv Spermatogenez 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 DNA mismatch repair klitinnij cikl double strand break repair via nonhomologous end joining female meiosis chromosome segregation GO 0100026 Reparaciya DNK positive regulation of isotype switching to IgA isotypes positive regulation of isotype switching to IgG isotypes GO 0007126 mejoz response to bacteriumDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez4292 17350Ensembl ENSG00000076242 ENSMUSG00000032498UniProt P40692 Q9JK91RefSeq mRNK NM 000249NM 001167617NM 001167618NM 001167619NM 001258271NM 001258273NM 001258274NM 026810NM 001324522RefSeq bilok NP 000240NP 001161089NP 001161090NP 001161091NP 001245200NP 001245202NP 001245203NP 001341544NP 001341546NP 001341547NP 001341548NP 001341549NP 001341550NP 001341551NP 001341552NP 001341556NP 001341557NP 001341558NP 001341559NP 001341545NP 001341553NP 001341554NP 001341555NP 001311451NP 081086Lokus UCSC n dHr 9 111 06 111 1 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVFERCA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak klitinnij cikl poshkodzhennya DNK reparaciya DNK polimorfizm acetilyaciya alternativnij splajsing Lokalizovanij u yadri Literatura red Han H J Maruyama M Baba S Park J G Nakamura Y 1995 Genomic structure of human mismatch repair gene hMLH1 and its mutation analysis in patients with hereditary non polyposis colorectal cancer HNPCC Hum Mol Genet 4 237 242 PubMed DOI 10 1093 hmg 4 2 237 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PubMed DOI 10 1101 gr 2596504 Schmutte C Sadoff M M Shim K S Acharya S Fishel R 2001 The interaction of DNA mismatch repair proteins with human exonuclease I J Biol Chem 276 33011 33018 PubMed DOI 10 1074 jbc M102670200 Nielsen F C Jaeger A C Luetzen A Bundgaard J R Rasmussen L J 2004 Characterization of human exonuclease 1 in complex with mismatch repair proteins subcellular localization and association with PCNA Oncogene 23 1457 1468 PubMed DOI 10 1038 sj onc 1207265 Kadyrov F A Dzantiev L Constantin N Modrich P 2006 Endonucleolytic function of MutLalpha in human mismatch repair Cell 126 297 308 PubMed DOI 10 1016 j cell 2006 05 039 Sacho E J Kadyrov F A Modrich P Kunkel T A Erie D A 2008 Direct visualization of asymmetric adenine nucleotide induced conformational changes in MutL alpha Mol Cell 29 112 121 PubMed DOI 10 1016 j molcel 2007 10 030Primitki red Zahvoryuvannya genetichno pov yazani z MLH1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 7127 angl Arhiv originalu za 15 bereznya 2016 Procitovano 30 serpnya 2017 UniProt P40692 angl Arhiv originalu za 5 veresnya 2017 Procitovano 30 serpnya 2017 Div takozh red Hromosoma 3 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title MLH1 amp oldid 35660659
