| |
LOCUS MLH1 756 aa linear PRI 05-NOV-2002
DEFINITION mutL homolog 1; mutL (E. coli) homolog 1; mutL (E. coli) homolog 1
(colon cancer, nonpolyposis type 2) [Homo sapiens].
ACCESSION NP_000240
VERSION NP_000240.1 GI:4557757
DBSOURCE REFSEQ: accession NM_000249.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 756)
AUTHORS Lindblom,A., Tannergard,P., Werelius,B. and Nordenskjold,M.
TITLE Genetic mapping of a second locus predisposing to hereditary
non-polyposis colon cancer
JOURNAL Nat. Genet. 5 (3), 279-282 (1993)
MEDLINE 94100984
PUBMED 7903889
REFERENCE 2 (residues 1 to 756)
AUTHORS Bronner,C.E., Baker,S.M., Morrison,P.T., Warren,G., Smith,L.G.,
Lescoe,M.K., Kane,M., Earabino,C., Lipford,J., Lindblom,A. et al.
TITLE Mutation in the DNA mismatch repair gene homologue hMLH1 is
associated with hereditary non-polyposis colon cancer
JOURNAL Nature 368 (6468), 258-261 (1994)
MEDLINE 94195398
PUBMED 8145827
REFERENCE 3 (residues 1 to 756)
AUTHORS Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen
CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD et al.
TITLE Mutation of a mutL homolog in hereditary colon cancer
JOURNAL Science 263 (5153), 1625-1629 (1994)
MEDLINE 94174309
PUBMED 8128251
REFERENCE 4 (residues 1 to 756)
AUTHORS Kolodner RD, Hall NR, Lipford J, Kane MF, Morrison PT, Finan PJ,
Burn J, Chapman P, Earabino C, Merchant E et al.
TITLE Structure of the human MLH1 locus and analysis of a large
hereditary nonpolyposis colorectal carcinoma kindred for mlh1
mutations
JOURNAL Cancer Res. 55 (2), 242-248 (1995)
MEDLINE 95112274
PUBMED 7812952
REFERENCE 5 (residues 1 to 756)
AUTHORS Han,H.J., Maruyama,M., Baba,S., Park,J.G. and Nakamura,Y.
TITLE Genomic structure of human mismatch repair gene, hMLH1, and its
mutation analysis in patients with hereditary non-polyposis
colorectal cancer (HNPCC)
JOURNAL Hum. Mol. Genet. 4 (2), 237-242 (1995)
MEDLINE 95276736
PUBMED 7757073
REFERENCE 6 (residues 1 to 756)
AUTHORS Charbonnier,F., Martin,C., Scotte,M., Sibert,L., Moreau,V. and
Frebourg,T.
TITLE Alternative splicing of MLH1 messenger RNA in human normal cells
JOURNAL Cancer Res. 55 (9), 1839-1841 (1995)
MEDLINE 95246019
PUBMED 7728749
REFERENCE 7 (residues 1 to 756)
AUTHORS Kolodner,R.D.
TITLE Mismatch repair: mechanisms and relationship to cancer
susceptibility
JOURNAL Trends Biochem. Sci. 20 (10), 397-401 (1995)
MEDLINE 96072350
PUBMED 8533151
REFERENCE 8 (residues 1 to 756)
AUTHORS Peltomaki,P. and de la Chapelle,A.
TITLE Mutations predisposing to hereditary nonpolyposis colorectal cancer
JOURNAL Adv. Cancer Res. 71, 93-119 (1997)
MEDLINE 97266060
PUBMED 9111864
REFERENCE 9 (residues 1 to 756)
AUTHORS Ban,C. and Yang,W.
TITLE Crystal structure and ATPase activity of MutL: implications for DNA
repair and mutagenesis
JOURNAL Cell 95 (4), 541-552 (1998)
MEDLINE 99043508
PUBMED 9827806
REFERENCE 10 (residues 1 to 756)
AUTHORS Chadwick,R.B., Pyatt,R.E., Niemann,T.H., Richards,S.K.,
Johnson,C.K., Stevens,M.W., Meek,J.E., Hampel,H., Prior,T.W. and de
la Chapelle,A.
TITLE Hereditary and somatic DNA mismatch repair gene mutations in
sporadic endometrial carcinoma
JOURNAL J. Med. Genet. 38 (7), 461-466 (2001)
MEDLINE 21367231
PUBMED 11474654
REFERENCE 11 (residues 1 to 756)
AUTHORS Cunningham,J.M., Kim,C.Y., Christensen,E.R., Tester,D.J., Parc,Y.,
Burgart,L.J., Halling,K.C., McDonnell,S.K., Schaid,D.J., Walsh
Vockley,C., Kubly,V., Nelson,H., Michels,V.V. and Thibodeau,S.N.
TITLE The frequency of hereditary defective mismatch repair in a
prospective series of unselected colorectal carcinomas
JOURNAL Am. J. Hum. Genet. 69 (4), 780-790 (2001)
MEDLINE 21426337
PUBMED 11524701
REFERENCE 12 (residues 1 to 756)
AUTHORS Pedrazzi,G., Perrera,C., Blaser,H., Kuster,P., Marra,G.,
Davies,S.L., Ryu,G.H., Freire,R., Hickson,I.D., Jiricny,J. and
Stagljar,I.
TITLE Direct association of Bloom's syndrome gene product with the human
mismatch repair protein MLH1
JOURNAL Nucleic Acids Res. 29 (21), 4378-4386 (2001)
MEDLINE 21550136
PUBMED 11691925
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from U07343.1.
Summary: MLH1 was identified as a locus frequently mutated in
hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was
discovered to be a human homolog of the E. coli mismatch repair
gene mutS, consistent with the characteristic alterations in
microsatellite sequences (RER+ phenotype) found in HNPCC.
FEATURES Location/Qualifiers
source 1..756
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p21.3"
Protein 1..756
/product="mutL homolog 1"
/note="mutL (E. coli) homolog 1; mutL (E. coli) homolog 1
(colon cancer, nonpolyposis type 2)"
Region 31..124
/region_name="Histidine kinase-, DNA gyrase B-, and
HSP90-like ATPase. This family represents the structurally
related ATPase domains of histidine kinase, DNA gyrase B
and HSP90"
/note="HATPase_c"
/db_xref="CDD:pfam02518"
Region 31..87
/region_name="Histidine kinase-like ATPases"
/note="HATPase_c"
/db_xref="CDD:smart00387"
variation 32
/allele="I"
/allele="V"
/db_xref="dbSNP:2020872"
variation 213
/allele="M"
/allele="V"
/db_xref="dbSNP:2308317"
variation 219
/allele="I"
/allele="V"
/db_xref="dbSNP:1799977"
Region 221..334
/region_name="DNA mismatch repair protein, C-terminal
domain. This family represents the C-terminal domain of
the mutL/hexB/PMS1 family. This domain has a ribosomal S5
domain 2-like fold"
/note="DNA_mis_repair"
/db_xref="CDD:pfam01119"
variation 718
/allele="H"
/allele="Y"
/db_xref="dbSNP:2020873"
CDS 1..756
/gene="MLH1"
/coded_by="NM_000249.1:22..2292"
/db_xref="LocusID:4292"
/db_xref="MIM:120436"
ORIGIN
1 msfvagvirr ldetvvnria ageviqrpan aikemiencl dakstsiqvi vkegglkliq
61 iqdngtgirk edldivcerf ttsklqsfed lasistygfr gealasishv ahvtittkta
121 dgkcayrasy sdgklkappk pcagnqgtqi tvedlfynia trrkalknps eeygkilevv
181 grysvhnagi sfsvkkqget vadvrtlpna stvdnirsif gnavsrelie igcedktlaf
241 kmngyisnan ysvkkcifll finhrlvest slrkaietvy aaylpknthp flylsleisp
301 qnvdvnvhpt khevhflhee silervqqhi eskllgsnss rmyftqtllp glagpsgemv
361 ksttsltsss tsgssdkvya hqmvrtdsre qkldaflqpl skplssqpqa ivtedktdis
421 sgrarqqdee mlelpapaev aaknqslegd ttkgtsemse krgptssnpr krhredsdve
481 mveddsrkem taactprrri inltsvlslq eeineqghev lremlhnhsf vgcvnpqwal
541 aqhqtklyll nttklseelf yqiliydfan fgvlrlsepa plfdlamlal dspesgwtee
601 dgpkeglaey iveflkkkae mladyfslei deegnliglp llidnyvppl eglpifilrl
661 atevnwdeek ecfeslskec amfysirkqy iseestlsgq qsevpgsipn swkwtvehiv
721 ykalrshilp pkhftedgni lqlanlpdly kvferc
//
|
|
