LOCUS HSU93236 2772 bp mRNA linear HUM 27-JUL-2007
DEFINITION Human menin (MEN1) mRNA, complete cds.
ACCESSION U93236
VERSION U93236.1
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 2772)
AUTHORS Chandrasekharappa,S.C., Guru,S.C., Manickam,P., Olufemi,S.-E.,
Collins,F.S., Emmert-Buck,M.R., Debelenko,L.V., Zhuang,Z.,
Lubensky,I.A., Liotta,L.A., Crabtree,J.S., Wang,Y., Roe,B.A.,
Weisemann,J., Boguski,M.S., Agarwal,S.K., Kester,M., Kim,Y.S.,
Heppner,C., Dong,Q., Spiegel,A.M., Burns,A.L. and Marx,S.J.
TITLE Positional cloning of the gene for multiple endocrine
neoplasia-type 1
JOURNAL Science 276 (5311), 404-407 (1997)
PUBMED 9103196
REFERENCE 2 (bases 1 to 2772)
AUTHORS Collins,F.S.
TITLE Direct Submission
JOURNAL Submitted (13-MAR-1997) National Human Genome Research Institute,
Bldg 38A, Room 605, National Institutes of Health, Bethesda, MD
20892, USA
FEATURES Location/Qualifiers
source 1..2772
/db_xref="H-InvDB:HIT000222669"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13"
gene 1..2772
/gene="MEN1"
exon 1..87
/gene="MEN1"
/number=1
exon 88..555
/gene="MEN1"
/number=2
CDS 111..1943
/gene="MEN1"
/codon_start=1
/product="menin"
/protein_id="AAC51228.1"
/translation="MGLKAAQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFV
EHFLAVNRVIPTNVPELTFQPSPAPDPPGGLTYFPVADLSIIAALYARFTAQIRGAVD
LSLYPREGGVSSRELVKKVSDVIWNSLSRSYFKDRAHIQSLFSFITGTKLDSSGVAFA
VVGACQALGLRDVHLALSEDHAWVVFGPNGEQTAEVTWHGKGNEDRRGQTVNAGVAER
SWLYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQKLLWLLYDLGHLERY
PMALGNLADLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLAGYHCRNRNV
REALQAWADTATVIQDYNYCREDEEIYKEFFEVANDVIPNLLKEAASLLEAGEERPGE
QSQGTQSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWATFLVQSLGRFEGQ
VRQKVRIVSREAEAAEAEEPWGEEAREGRRRGPRRESKPEEPPPPKKPALDKGLGTGQ
GAVSGPPRKPPGTVAGTARGPEGGSTAQVPAPAASPPPEGPVLTFQSEKMKGMKELLV
ATKINSSAIKLQLTAQSQVQMKKQKVSTPSDYTLSFLKRQRKGL"
variation 175
/gene="MEN1"
/standard_name="L22R"
/note="Lys22Arg"
/replace="g"
variation 357..360
/gene="MEN1"
/standard_name="357del4"
/note="4 bp deletion in kindred 0176"
/replace=""
variation 416
/gene="MEN1"
/standard_name="416delC"
/note="1 bp deletion"
/replace=""
variation 464..466
/gene="MEN1"
/standard_name="K119del"
/note="3 bp deletion"
/replace=""
variation 512
/gene="MEN1"
/standard_name="512delC"
/note="1 bp deletion"
/replace=""
exon 556..764
/gene="MEN1"
/number=3
variation 704
/gene="MEN1"
/standard_name="W198X"
/note="Trp198stop"
/replace="a"
variation 735..738
/gene="MEN1"
/standard_name="735del4"
/note="4 bp deletion"
/replace=""
exon 765..893
/gene="MEN1"
/number=4
exon 894..934
/gene="MEN1"
/number=5
exon 935..1022
/gene="MEN1"
/number=6
exon 1023..1159
/gene="MEN1"
/number=7
variation 1132
/gene="MEN1"
/standard_name="1132delG"
/note="1 bp deletion"
/replace=""
exon 1160..1295
/gene="MEN1"
/number=8
variation 1197..1199
/gene="MEN1"
/standard_name="E363del"
/note="3 bp deletion"
/replace=""
exon 1296..1460
/gene="MEN1"
/number=9
variation 1416
/gene="MEN1"
/standard_name="W436R"
/note="Trp436Arg"
/replace="c"
variation 1417
/gene="MEN1"
/standard_name="W436X"
/note="Trp436stop"
/replace="a"
exon 1461..2772
/gene="MEN1"
/number=10
variation 1689
/gene="MEN1"
/standard_name="R527X"
/note="Arg527stop"
/replace="t"
BASE COUNT 577 a 909 c 779 g 507 t
ORIGIN
1 ggtgtccgga gccgcggacc tagagatccc agaagccaca gcgcagcggc ccggcccgcc
61 actatttcca ggctctgcgg ggcaggggcc gccgcccacc gcccgccgcc atggggctga
121 aggccgccca gaagacgctg ttcccgctgc gctccatcga cgacgtggtg cgcctgtttg
181 ctgccgagct gggccgagag gagccggacc tggtgctcct ttccttggtg ctgggcttcg
241 tggagcattt tctggctgtc aaccgcgtca tccctaccaa cgttcccgag ctcaccttcc
301 agcccagccc cgcccccgac ccgcctggcg gcctcaccta ctttcccgtg gccgacctgt
361 ctatcatcgc cgccctctat gcccgcttca ccgcccagat ccgaggcgcc gtcgacctgt
421 ccctctatcc tcgagaaggg ggtgtctcca gccgtgagct ggtgaagaag gtctccgatg
481 tcatatggaa cagcctcagc cgctcctact tcaaggatcg ggcccacatc cagtccctct
541 tcagcttcat cacaggcacc aaattggaca gctccggtgt ggcctttgct gtggttgggg
601 cctgccaggc cctgggtctc cgggatgtcc acctcgccct gtctgaggat catgcctggg
661 tagtgtttgg gcccaatggg gagcagacag ctgaggtcac ctggcacggc aagggcaacg
721 aggaccgcag gggccagaca gtcaatgccg gtgtggctga gcggagctgg ctgtacctga
781 aaggatcata catgcgctgt gaccgcaaga tggaggtggc gttcatggtg tgtgccatca
841 acccttccat tgacctgcac accgactcgc tggagcttct gcagctgcag cagaagctgc
901 tctggctgct ctatgacctg ggacatctgg aaaggtaccc catggcctta gggaacctgg
961 cagatctaga ggagctggag cccacccctg gccggccaga cccactcacc ctctaccaca
1021 agggcattgc ctcagccaag acctactatc gggatgaaca catctacccc tacatgtacc
1081 tggctggcta ccactgtcgc aaccgcaatg tgcgggaagc cctgcaggcc tgggcggaca
1141 cggccactgt catccaggac tacaactact gccgggaaga cgaggagatc tacaaggagt
1201 tctttgaagt agccaatgat gtcatcccca acctgctgaa ggaggcagcc agcttgctgg
1261 aggcgggcga ggagcggccg ggggagcaaa gccagggcac ccagagccaa ggttccgccc
1321 tccaggaccc tgagtgcttc gcccacctgc tgcgattcta cgacggcatc tgcaaatggg
1381 aggagggcag tcccacgcct gtgctgcacg tgggctgggc cacctttctt gtgcagtccc
1441 taggccgttt tgagggacag gtgcggcaga aggtgcgcat agtgagccga gaggccgagg
1501 cggccgaggc cgaggagccg tggggcgagg aagcccggga aggccggcgg cggggcccac
1561 ggcgggagtc caagccagag gagcccccgc cgcccaagaa gccagcactg gacaagggcc
1621 tgggcaccgg ccagggtgca gtgtcaggac ccccccggaa gcctcctggg actgtcgctg
1681 gcacagcccg aggccctgaa ggtggcagca cggctcaggt gccagcaccc gcagcatcac
1741 caccgccgga gggtccagtg ctcactttcc agagtgagaa gatgaagggc atgaaggagc
1801 tgctggtggc caccaagatc aactcgagcg ccatcaagct gcaactcacg gcacagtcgc
1861 aagtgcagat gaagaagcag aaagtgtcca cccctagtga ctacactctg tctttcctca
1921 agcggcagcg caaaggcctc tgaactactg gggacttcgg accgcttgtg gggacccagg
1981 ctccgcctta gtcccccaac tctgagccca tgttctgccc ccagcccaaa ggggacaggc
2041 ctcacctcta cccaaaccct aggttcccgg tcccgagtac agtctgtatc aaacccacga
2101 ttttctccag ctcagaaccc agggctctgc cccagtcgtt agaatatagg tctcttctcc
2161 cagaatccca gccggccaat ggaaacctca cgctgggtcc taattaccag tctttaaagg
2221 cccagcccct agaaacccaa gctcctcctc ggaaccgctc acctagagcc agaccaacgt
2281 tactcagggc tcctcccagc ttgtaggagc tgaggtttca cccttaaccc aagggagcac
2341 aggtcccacc tccagcccgg ggagcctagg accactcagc ccctaggagt atatttccgc
2401 acttcagaat tccatatctt gcgaatccaa gctccctgcc ccaaataact tcagtcctgc
2461 ttccagaatt tggaaatcct agtttcctct ccttcgtatc ccgagtctgg gacacaaaac
2521 tccgccccca gcctatgagc atcctgagcc ccgccctctt cctgacgaaa ctggccccgg
2581 atcagagcag gacctccctt ccgaccctct gggaacctcc cagaggtcca gcccatctcg
2641 gagcatcccg gaggaaatct gcagaggggt taggagtggg tgacaagagc ctgatctctt
2701 cctgttttgt acatagattt atttttcagt tccaagaaag atgaatacat tttgttaaaa
2761 aaaaaaaaaa aa
//