LOCUS AY040322 5419 bp mRNA linear HUM 12-MAR-2003
DEFINITION Homo sapiens nuclear transcription factor/notch receptor regulator
(MAML2) mRNA, complete cds.
ACCESSION AY040322
VERSION AY040322.1
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 5419)
AUTHORS Tonon,G., Modi,S., Wu,L., Kubo,A., Coxon,A.B., Komiya,T.,
O'Neil,K., Stover,K., El-Naggar,A., Griffin,J.D., Kirsch,I.R. and
Kaye,F.J.
TITLE t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates
a novel fusion product that disrupts a Notch signaling pathway
JOURNAL Nat. Genet. 33 (2), 208-213 (2003)
PUBMED 12539049
REMARK Erratum:[Nat Genet. 2003 Mar;33(3):430]
REFERENCE 2 (bases 1 to 5419)
AUTHORS Kaye,F.J.
TITLE Direct Submission
JOURNAL Submitted (14-JUN-2001) Genetics Department, NCI-Naval Hospital,
Bldg 8/Rm 5101/Naval Hospital, Bethesda, MD 20889, USA
FEATURES Location/Qualifiers
source 1..5419
/db_xref="H-InvDB:HIT000083611"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q21"
gene <1..5419
/gene="MAML2"
/note="mastermind like 2; includes exons 2-5"
CDS 1286..4747
/gene="MAML2"
/note="targeted by the t(11;19) translocation in human
mucoepidermoid tumors"
/codon_start=1
/product="nuclear transcription factor/notch receptor
regulator"
/protein_id="AAK93831.1"
/translation="MGDTAPPQAPAGGLGGASGAGLLGGGSVTPRVHSAIVERLRARI
AVCRQHHLSCEGRYERGRAESSDRERESTLQLLSLVQHGQGARKAGKHTKATATAATT
TAPPPPPAAPPAASQAAATAAPPPPPDYHHHHQQHLLNSSNNGGSGGINGEQQPPAST
PGDQRNSALIALQGSLKRKQVVNLSPANSKRPNGFVDNSFLDIKRIRVGENLSAGQGG
LQINNGQSQIMSGTLPMSQAPLRKTNTLPSHTHSPGNGLFNMGLKEVKKEPGETLSCS
KHMDGQMTQENIFPNRYGDDPGEQLMDPELQELFNELTNISVPPMSDLELENMINATI
KQDDPFNIDLGQQSQRSTPRPSLPMEKIVIKSEYSPGLTQGPSGSPQLRPPSAGPAFS
MANSALSTSSPIPSVPQSQAQPQTGSGASRALPSWQEVSHAQQLKQIAANRQQHARMQ
QHQQQHQPTNWSALPSSAGPSPGPFGQEKIPSPSFGQQTFSPQSSPMPGVAGGSGQSK
VMANYMYKAGPSAQGGHLDVLMQQKPQDLSRSFINNPHPAMEPRQGNTKPLFHFNSDQ
ANQQMPSVLPSQNKPSLLHYTQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSISAQ
QQQQQQSSISAQQQQQQQQQQQQQQQQQQQQQQQQQQQPSSQPAQSLPSQPLLRSPLP
LQQKLLLQQMQNQPIAGMGYQVSQQQRQDQHSVVGQNTGPSPSPNPCSNPNTGSGYMN
SQQSLLNQQLMGKKQTLQRQIMEQKQQLLLQQQMLADAEKIAPQDQINRHLSRPPPDY
KDQRRNVGNMQPTAQYSGGSSTISLNSNQALANPVSTHTILTPNSSLLSTSHGTRMPS
LSTAVQNMGMYGNLPCNQPNTYSVTSGMNQLTQQRNPKQLLANQNNPMMPRPPTLGPS
NNNNVATFGAGSVGNSQQLRPNLTHSMASMPPQRTSNVMITSNTTAPNWASQEGTSKQ
QEALTSAGVRFPTGTPAAYTPNQSLQQAVGSQQFSQRAVAPPNQLTPAVQMRPMNQMS
QTLNGQTMGPLRGLNLRPNQLSTQILPNLNQSGTGLNQSRTGINQPPSLTPSNFPSPN
QSSRAFQGTDHSSDLAFDFLSQQNDNMGPALNSDADFIDSLLKTEPGNDDWMKDINLD
EILGNNS"
BASE COUNT 1627 a 1438 c 1163 g 1191 t
ORIGIN
1 ctccctctcc tatcggagca caatgaaagc ctgtgtatcg ccgtgactcc gggcgggagc
61 cagtgtcagc aaagcggcta acaacagacg agaaagagaa aggaaaatac aagctacttt
121 ttttttccat ctataaagcg gagcaaatac aggagataga accagattgc ttattgcgag
181 tccagaccct cagatccact ggccggggat ggaatgtaca aaagtggaca gaaaagtggc
241 tggacatgac tcggtgcaat ttgctggaag tttgtaagtt tgaccatcgt ttgtaaatta
301 ctctcggaag agtttgtctc tcttgatact gtattagaat agagccgggg gtgaggaata
361 gaaacgtaag cgggaaagaa aaaaatgtgt tgaaggatct ctctcagtgg ctagcgactt
421 aagattgctt ttcatttaag gctaggaaac cttagaggga gtgaggattt taccggtgat
481 tggattagct gaagaaaaaa gcatggtcca aaagtccaat tactgacatt gttaacagtt
541 gaaaagctgt ctccctcttt tgggagaaga caacatccta cagtacccca aagaggagaa
601 aacaccggag cgaaaggaaa gggaggaaaa attaaaagcc aaaagacagt ctcccttgat
661 ttttgcacat tttgaacagt gacttaaaca tcttctgaaa cagcactgtt ttgttttgtt
721 ttggtttttt atttaacctg aggaaaagtc aaggctgctg gttacataga catggtagaa
781 atgtgtttct ctgcagaaac atccccataa agaattgtcg gaaacaacta ggtgaggggg
841 agtcctctct attaatacct ctctcaatac cttttgctgt gtgtttctgt ctcttgctgg
901 acaatccctg aattcttgat ctaaccccca gatcgtgtgt ttacaaagta cctagtggct
961 cttgtcagct tggtggagga aaaaaaatcc accaactctg tccaacttct ccagagctgt
1021 caaatgcaat tagagtaagt taatcagggt ttgtttccaa cttatcctcc ccccagttgg
1081 tttctattct ttctccccac cctcttttta ctaactcccc tcccccacaa cttctccacg
1141 gctcccccac aacctctgaa gacctctatt catgtggccc tgaacactga gctcacattg
1201 tcaaaaacag acttgcctgc aatagccagc agtagcctct ttccacctca ccatcccaga
1261 ggcagcaatc attgtgtccg gtaagatggg ggacacagcg cccccgcagg cccccgcagg
1321 agggctaggg ggggcctctg gggcggggct ccttggaggg ggctcagtca ccccgagagt
1381 gcacagtgct atcgtggagc gcctccgggc tcggatcgct gtctgccgcc aacaccacct
1441 gagctgtgaa ggacgatatg aacgaggtag ggccgagagc tcagaccggg aaagagaaag
1501 caccttgcag ctcctgagcc ttgtacagca tggccagggg gcaaggaaag ctggcaaaca
1561 caccaaggcc accgccactg ctgccaccac tacagcccct ccaccgcccc ctgctgcccc
1621 tcctgcggcc tcccaagcag cagcaacagc agccccaccg cccccaccag actatcacca
1681 tcaccaccag cagcacctgc tgaacagtag caataatggt ggcagtggtg ggataaacgg
1741 agagcagcag ccgcccgctt caaccccagg ggaccagagg aactcagccc tgattgcgct
1801 ccagggttcc ttgaaaagaa aacaggtagt taacctatct cctgccaaca gcaagcgacc
1861 caatggcttt gtggacaact catttcttga tatcaaaaga attcgtgttg gggagaatct
1921 ctctgcagga caaggtggcc tccaaataaa caatggacaa agtcagatta tgtcagggac
1981 cttgcctatg agccaagcac ccctgcgaaa gactaacact ctgccatccc atacacattc
2041 tcctggcaat ggcctgttta acatgggctt aaaggaggta aagaaggagc caggagagac
2101 tctgtcttgc agtaagcaca tggatggcca aatgacccaa gagaatattt ttcctaatag
2161 gtacggagac gaccctggag aacaactgat ggatcctgag ctgcaggaac tgttcaatga
2221 actgaccaac atatctgtgc ctcccatgag tgaccttgaa ctggagaaca tgatcaatgc
2281 caccataaag caggatgacc catttaacat tgacttgggt cagcaaagcc agaggagcac
2341 acctaggccc tccttaccca tggagaaaat agtgatcaaa agtgaatact caccgggctt
2401 gactcagggc ccctcaggct ctcctcagct gaggccccca tcagctggcc ccgcattctc
2461 catggccaac tctgccctct ccacttcgtc tccaatccct tcagtccctc agagccaggc
2521 tcagcctcag acaggctccg gagcaagccg ggccttgcca agctggcagg aagtatccca
2581 tgcccagcag ctcaaacaga tagctgctaa tcgtcagcag catgcccgga tgcagcagca
2641 ccagcagcag caccagccta ccaactggtc agccttgccc tcctctgctg gaccatcacc
2701 aggtccattt gggcaggaga aaatccccag cccttctttt ggtcagcaga cattcagccc
2761 acagagctcc cccatgcctg gggtagctgg cggcagcggc cagtcgaaag taatggctaa
2821 ctacatgtac aaggccggcc cctcagccca gggtgggcac ctagatgtcc tcatgcagca
2881 aaagcctcag gatctcagtc gaagttttat taacaacccg cacccagcca tggagccccg
2941 tcagggcaac accaagcctt tgtttcattt taactcagat caagcgaacc agcagatgcc
3001 ttctgttttg ccttcccaga acaagccttc tctcctacac tacacccaac agcaacagca
3061 gcaacagcag cagcagcagc agcagcagca gcagcaacag cagcagcagc agcaacagca
3121 acagcaacag caacagcaga gttcaatttc agctcaacaa cagcaacagc agcagagctc
3181 aatttcagcc caacagcagc agcagcagca acaacagcag cagcagcagc aacaacaaca
3241 gcaacaacag cagcagcagc agcagcaaca accatcttct cagcctgccc aatctctacc
3301 aagccagcct ttgctaaggt cacctttgcc acttcagcaa aagctcctac ttcagcaaat
3361 gcagaatcag cccattgcag gaatgggata ccaagtctcc caacaacaga gacaggatca
3421 acactctgtg gtaggccaga acacaggccc cagtccaagt cctaacccct gctcaaatcc
3481 aaacactgga agtggttaca tgaactccca gcaatcactg ttgaatcagc aattgatggg
3541 aaagaagcag actctacaga ggcagatcat ggagcagaaa cagcaacttc ttctccagca
3601 gcagatgctg gctgacgcgg agaaaattgc tccacaagat cagataaacc gacatttgtc
3661 aaggccacct ccagattata aagaccaaag aagaaatgtg ggcaatatgc aaccaactgc
3721 tcagtattct ggtggctcat ccacaataag cttaaactct aaccaggctt tggcaaaccc
3781 agtttcaaca cacaccattt taactcccaa ttccagcctc ctgtctactt ctcacgggac
3841 aagaatgcca tcattatcta cagcagttca gaatatgggg atgtatggaa atctgccttg
3901 taatcaacct aacacataca gtgtcacttc aggaatgaat caattgaccc aacagagaaa
3961 cccaaagcaa ttgttagcaa atcaaaacaa ccctatgatg ccacggccac ctaccttagg
4021 gccaagtaat aataacaatg tagccacttt tggagctgga tctgttggta attcacaaca
4081 attgagacca aatttaaccc atagtatggc aagcatgcca ccacagagaa catcaaacgt
4141 aatgatcaca tccaacacaa ctgcaccaaa ctgggcctct caagaaggaa caagcaaaca
4201 gcaagaagcc ctgacgtctg caggagtccg cttccccaca ggtacacctg cagcctatac
4261 cccaaatcag tcactgcaac aggcagtagg tagccagcaa ttttcccaga gggcagtggc
4321 tcctcctaac cagttaacac cagcagtgca aatgagaccc atgaaccaaa tgagccaaac
4381 actaaatggg caaaccatgg gtcccctcag gggtctgaat ctcagaccca atcagctaag
4441 cacacagatt ttgcctaatt tgaatcagtc aggaacaggg ttgaatcagt cgaggacggg
4501 catcaaccag ccaccatccc tgacgcccag caattttcct tcacccaacc aaagttccag
4561 ggcttttcaa ggaactgacc acagcagtga cttagctttt gacttcctca gccaacaaaa
4621 tgataacatg ggccctgccc taaacagtga tgctgatttc attgattctt tattgaagac
4681 agagcctggt aatgatgact ggatgaaaga catcaatctt gatgaaatct tggggaacaa
4741 ttcctaaaga agaaagggaa gacaatttac aaactccaag cactaaaagg cagtatatta
4801 cagaaactct gtagaggctg aactgttgat gttcaggtgg actacatgaa gataacatgc
4861 ttaaaaatgg aaagcagaaa gtaactgcag tgatgaacat tttggtccaa attcttgttt
4921 taaatcttac acctgaaagt aaaatattgg gatcactttt ccctgtctaa actccaggat
4981 acagtatcca atttatccaa acagaactgt ggtgtcaatg tgtaattaat tgtgtaaaat
5041 agccttccca agtttctttt tccctggaaa ataaaaaagg taatagaact tgtagtttat
5101 ttaaacccca tgtcatgagg aggtactagt tccaagcaac aaactcctta atttgctcta
5161 atagataggt atggtttaat ctttccattg tgtcttttca tttaattttc ctgaagcttg
5221 caggatagat tgaaatgtta taggtttgtt tggagtaacc aaacagtatg caaattaaga
5281 aaaagccaga gaacctagaa aacatccagt ggattacaga atttcttccc catattcact
5341 cctcactttt acaattttcc cacaatcctc tacttcagtg ggatgctgtg tctagtgatt
5401 aaacaaaaat atagagctg
//