LOCUS HSHMLHI 2503 bp mRNA linear HUM 31-MAR-1994
DEFINITION Human DNA mismatch repair (hmlh1) mRNA, complete cds.
ACCESSION U07418
VERSION U07418.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2503)
AUTHORS Papadopoulos,N., Nicolaides,N.C., Wei,Y.F., Ruben,S.M.,
Carter,K.C., Rosen,C.A., Haseltine,W.H., Fleischmann,R.D.,
Fraser,C.M., Adams,M.D., Venter,J.C., Hamilton,S.R., Petersen,G.M.,
Watson,P., Lynch,H.T., Peltomaki,P., Mecklin,J.P., Chapelle,A.D.,
Kinzler,K.W. and Vogelstein,B.
TITLE Mutation of a mutL homolog in hereditary colon cancer
JOURNAL Science 263 (5153), 1625-1629 (1994)
PUBMED 8128251
REFERENCE 2 (bases 1 to 2503)
AUTHORS Wei,Y.F.
TITLE Direct Submission
JOURNAL Submitted (04-MAR-1994) Ying-Fei Wei, Molecular Biology, Human
Genome Sciences, Inc., 9620 Medical Center Drive, Rockville, MD
20850, USA
FEATURES Location/Qualifiers
source 1..2503
/db_xref="H-InvDB:HIT000217662"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="p21"
/tissue_type="gall bladder"
/dev_stage="adult"
gene 1..2503
/gene="hmlh1"
CDS 42..2312
/gene="hmlh1"
/function="DNA mismatch repair"
/note="human homolog of E. coli mutL gene product,
Swiss-Prot Accession Number P23367"
/codon_start=1
/protein_id="AAA17374.1"
/translation="MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKS
TSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGE
ALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIA
TRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRS
VFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAI
ETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKL
LGSNSSRMYFTQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQK
LDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGD
TTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLS
LQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIY
DFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLAD
YFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAM
FYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNI
LQLANLPDLYKVFERC"
BASE COUNT 723 a 539 c 599 g 642 t
ORIGIN
1 gttgaacatc tagacgtttc cttggctctt ctggcgccaa aatgtcgttc gtggcagggg
61 ttattcggcg gctggacgag acagtggtga accgcatcgc ggcgggggaa gttatccagc
121 ggccagctaa tgctatcaaa gagatgattg agaactgttt agatgcaaaa tccacaagta
181 ttcaagtgat tgttaaagag ggaggcctga agttgattca gatccaagac aatggcaccg
241 ggatcaggaa agaagatctg gatattgtat gtgaaaggtt cactactagt aaactgcagt
301 cctttgagga tttagccagt atttctacct atggctttcg aggtgaggct ttggccagca
361 taagccatgt ggctcatgtt actattacaa cgaaaacagc tgatggaaag tgtgcataca
421 gagcaagtta ctcagatgga aaactgaaag cccctcctaa accatgtgct ggcaatcaag
481 ggacccagat cacggtggag gacctttttt acaacatagc cacgaggaga aaagctttaa
541 aaaatccaag tgaagaatat gggaaaattt tggaagttgt tggcaggtat tcagtacaca
601 atgcaggcat tagtttctca gttaaaaaac aaggagagac agtagctgat gttaggacac
661 tacccaatgc ctcaaccgtg gacaatattc gctccgtctt tggaaatgct gttagtcgag
721 aactgataga aattggatgt gaggataaaa ccctagcctt caaaatgaat ggttacatat
781 ccaatgcaaa ctactcagtg aagaagtgca tcttcttact cttcatcaac catcgtctgg
841 tagaatcaac ttccttgaga aaagccatag aaacagtgta tgcagcctat ttgcccaaaa
901 acacacaccc attcctgtac ctcagtttag aaatcagtcc ccagaatgtg gatgttaatg
961 tgcaccccac aaagcatgaa gttcacttcc tgcacgagga gagcatcctg gagcgggtgc
1021 agcagcacat cgagagcaag ctcctgggct ccaattcctc caggatgtac ttcacccaga
1081 ctttgctacc aggacttgct ggcccctctg gggagatggt taaatccaca acaagtctga
1141 cctcgtcttc tacttctgga agtagtgata aggtctatgc ccaccagatg gttcgtacag
1201 attcccggga acagaagctt gatgcatttc tgcagcctct gagcaaaccc ctgtccagtc
1261 agccccaggc cattgtcaca gaggataaga cagatatttc tagtggcagg gctaggcagc
1321 aagatgagga gatgcttgaa ctcccagccc ctgctgaagt ggctgccaaa aatcagagct
1381 tggaggggga tacaacaaag gggacttcag aaatgtcaga gaagagagga cctacttcca
1441 gcaaccccag aaagagacat cgggaagatt ctgatgtgga aatggtggaa gatgattccc
1501 gaaaggaaat gactgcagct tgtacccccc ggagaaggat cattaacctc actagtgttt
1561 tgagtctcca ggaagaaatt aatgagcagg gacatgaggt tctccgggag atgttgcata
1621 accactcctt cgtgggctgt gtgaatcctc agtgggcctt ggcacagcat caaaccaagt
1681 tataccttct caacaccacc aagcttagtg aagaactgtt ctaccagata ctcatttatg
1741 attttgccaa ttttggtgtt ctcaggttat cggagccagc accgctcttt gaccttgcca
1801 tgcttgcctt agatagtcca gagagtggct ggacagagga agatggtccc aaagaaggac
1861 ttgctgaata cattgttgag tttctgaaga agaaggctga gatgcttgca gactatttct
1921 ctttggaaat tgatgaggaa gggaacctga ttggattacc ccttctgatt gacaactatg
1981 tgcccccttt ggagggactg cctatcttca ttcttcgact agccactgag gtgaattggg
2041 acgaagaaaa ggaatgtttt gaaagcctca gtaaagaatg cgctatgttc tattccatcc
2101 ggaagcagta catatctgag gagtcgaccc tctcaggcca gcagagtgaa gtgcctggct
2161 ccattccaaa ctcctggaag tggactgtgg aacacattgt ctataaagcc ttgcgctcac
2221 acattctgcc tcctaaacat ttcacagaag atggaaatat cctgcagctt gctaacctgc
2281 ctgatctata caaagtcttt gagaggtgtt aaatatggtt atttatgcac tgtgggatgt
2341 gttcttcttt ctctgtattc cgatacaaag tgttgtatca aagtgtgata tacaaagtgt
2401 accaacataa gtgttggtag cacttaagac ttatacttgc cttctgatag tattccttta
2461 tacacagtgg attgattata aataaataga tgtgtcttaa cat
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