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MLH3 |
Protein FULL name:
DNA mismatch repair protein Mlh3 isoform 2 [Homo sapiens].
MLH3 (Homo sapiens) is product of expression of MLH3 gene.
Human diseases related to this protein:
MLH3 is involved in:
MMR in Homo sapiens
Keywords:
FUNCTION: Probably involved in the repair of mismatches in DNA.
SUBUNIT: Heterodimer of MLH1 and MLH3.
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: Defects in MLH3 are the cause of hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:604395]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPphenotype (also called Lynch syndrome). Most families with clinically recognized HNPhave mutations in either MLH1 or MSH2 genes. HNPis an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPis reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPoriginate within benign neoplastic polyps termed adenomas. Clinically, HNPis often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPis based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
DISEASE: Defects in MLH3 are a cause of colorectal cancer (CRC) [MIM:114500].
SIMILARITY: Belongs to the DNA mismatch repair mutL/hexB family.
SEQUENCE CAUTION: Sequence=AAC42005.1; Type=Frameshift; Positions=Several; Sequence=AAC42005.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
| NCBI GenPept GI number(s): |
91992160 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | Q9UHC1 |
Q9UHC1 |
| PFAM: | - |
Q9UHC1 (Link - using uniprot id) |
| InterPro: | - |
Q9UHC1 (Link - using uniprot id) |
| CATH: | - | - |
| SCOP: | - | - |
| PDB: | - | - |
Protein sequence:
|
MIKCLSVEVQAKLRSGLAISSLGQCVEELALNSIDAEAKCVAVRVNMETF QVQVIDNGFGMGSDDVEKVGNRYFTSKCHSVQDLENPRFYGFRGEALANI ADMASAVEISSKKNRTMKTFVKLFQSGKALKACEADVTRASAGTTVTVYN LFYQLPVRRKCMDPRLEFEKVRQRIEALSLMHPSISFSLRNDVSGSMVLQ LPKTKDVCSRFCQIYGLGKSQKLREISFKYKEFELSGYISSEAHYNKNMQ FLFVNKRLVLRTKLHKLIDFLLRKESIICKPKNGPTSRQMNSSLRHRSTP ELYGIYVINVQCQFCEYDVCMEPAKTLIEFQNWDTLLFCIQEGVKMFLKQ EKLFVELSGEDIKEFSEDNGFSLFDATLQKRVTSDERSNFQEACNNILDS YEMFNLQSKAVKRKTTAENVNTQSSRDSEATRKNTNDAFLYIYESGGPGH SKMTEPSLQNKDSSCSESKMLEQETIVASEAGENEKHKKSFLEHSSLENP CGTSLEMFLSPFQTPCHFEESGQDLEIWKESTTVNGMAANILKNNRIQNQ PKRFKDATEVGCQPLPFATTLWGVHSAQTEKEKKKESSNCGRRNVFSYGR VKLCSTGFITHVVQNEKTKSTETEHSFKNYVRPGPTRAQETFGNRTRHSV ETPDIKDLASTLSKESGQLPNKKNCRTNISYGLENEPTATYTMFSAFQEG SKKSQTDCILSDTSPSFPWYRHVSNDSRKTDKLIGFSKPIVRKKLSLSSQ LGSLEKFKRQYGKVENPLDTEVEESNGVTTNLSLQVEPDILLKDKNRLEN SDVCKITTMEHSDSDSSCQPASHILNSEKFPFSKDEDCLEQQMPSLRESP MTLKELSLFNRKPLDLEKSSESLASKLSRLKGSERETQTMGMMSRFNELP NSDSSRKDSKLCSVLTQDFCMLFNNKHEKTENGVIPTSDSATQDNSFNKN SKTHSNSNTTENCVISETPLVLPYNNSKVTGKDSDVLIRASEQQIGSLDS PSGMLMNPVEDATGDQNGICFQSEESKARACSETEESNTCCSDWQRHFDV ALGRMVYVNKMTGLSTFIAPTEDIQAACTKDLTTVAVDVVLENGSQYRCQ PFRSDLVLPFLPRARAERTVMRQDNRDTVDDTVSSESLQSLFSEWDNPVF ARYPEVAVDVSSGQAESLAVKIHNILYPYRFTKGMIHSMQVLQQVDNKFI ACLMSTKTEENGEADSYEKQQAQGSGRKKLLSSTLIPPLEITVTEEQRRL LWCYHKNLEDLGLEFVFPDTSDSLVLVGKVPLCFVEREANELRRGRSTVT KSIVEEFIREQLELLQTTGGIQGTLPLTVQKVLASQACHGAIKFNDGLSL QESCRLIEALSSCQLPFQCAHGRPSMLPLADIDHLEQEKQIKPNLTKLRK MAQAWRLFGKAECDTRQSLQQSMPPCEPP |
MLH3 (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. | Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, et al. | Nature June 1, 1995 |
| MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. | Lipkin SM, Wang V, Jacoby R, Banerjee-Basu S, Baxevanis AD, Lynch HT, Elliott RM, Collins FS | Nat Genet Feb. 1, 2000 |
| The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2. | Kondo E, Horii A, Fukushige S | Nucleic Acids Res April 15, 2001 |
| Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers. | Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch I, Hadley D, Lynch HT, Collins FS | Hum Mutat May 1, 2001 |
| A role for MLH3 in hereditary nonpolyposis colorectal cancer. | Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, Kooi KA, van der Sluis T, Kempinga C, van dDer Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RM | Nat Genet Oct. 1, 2001 |
| The DNA sequence and analysis of human chromosome 14. | Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J | Nature Jan. 6, 2003 |
| Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column. | Imami K, Sugiyama N, Kyono Y, Tomita M, Ishihama Y | Anal Sci Feb. 1, 2008 |
Last modification of this entry: Nov. 11, 2010.
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