LOCUS X75296 3420 bp mRNA linear HUM 07-OCT-2008 DEFINITION H.sapiens TUP1-like enhancer of split gene 1 (TUPLE1) mRNA. ACCESSION X75296 VERSION X75296.1 KEYWORDS DiGeorge syndrome; TUP1 gene; TUP1LE1 gene. 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 3420) AUTHORS Scambler P.J. JOURNAL Submitted (28-SEP-1993) to the INSDC. P.J. Scambler, Institute of Child Health, Room 214, 30 Guilford St., London WC1N 1EH, UK REFERENCE 2 (bases 1 to 3420) AUTHORS Halford S., Wadey R., Scambler P.J. TITLE Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease JOURNAL Hum. Mol. Genet. 2(12), 2099-2107(1993). PUBMED 8111380 FEATURES Location/Qualifiers source 1..3420 /db_xref="H-InvDB:HIT000323515" /organism="Homo sapiens" /chromosome="number 22" /map="position=q11" /mol_type="mRNA" /dev_stage="17-19 week fetal" /clone_lib="total human fetal brain" /db_xref="taxon:9606" CDS 360..2660 /gene="TUPLE1" /product="TUP1 like enhancer of SPLIT gene 1" /db_xref="GOA:P54198" /db_xref="H-InvDB:HIT000323515.14" /db_xref="HGNC:HGNC:4916" /db_xref="InterPro:IPR001680" /db_xref="InterPro:IPR011494" /db_xref="InterPro:IPR015943" /db_xref="InterPro:IPR017986" /db_xref="InterPro:IPR019015" /db_xref="InterPro:IPR019775" /db_xref="InterPro:IPR031120" /db_xref="InterPro:IPR036322" /db_xref="PDB:2I32" /db_xref="PDB:5YJE" /db_xref="UniProtKB/Swiss-Prot:P54198" /protein_id="CAA53044.1" /translation="MSPVLQEDDEKDENIPKMLCQMDNHLACVNCVRWSNSGMYLASG GDDKLIMVWKRATYIGPSTVFGSSGKLANVEQWRCVSILRNHSGDVMDVAWSPHDAWL ASCSVDNTVVIWNAVKFPEILATLRGHSGLVKGLTWDPVGKYIASQADDRSLKVWRTL DWQLETSITKPFDECGGTTHVLRLSWSPDGHYLVSAHAMNNSGPTAQIIEREGWKTNM DFVGHRKAVTVVKFNPKIFKKKQKNGSSAKPSCPYCCCAVGSKDRSLSVWLTCLKRPL VVIHELFDKSIMDISWTLNGLGILVCSMDGSVAFLDFSQDELGDPLSEEEKSRIHQST YGKSLAIMTEAQLSTAVIENPEMLKYQRRQQQQQLDQKSAATREMGSATSVAGVVNGE SLEDIRKNLLKKQVETRTADGRRRITPLCIAQLDTGDFSTAFFNSIPLSGSLAGTMLS SHSSPQLLPLDSSTPNSFGASKPCTEPVVAASARPAGDSVNKDSMNATSTPAALSPSV LTTPSKIEPMKAFDSRFTERSKATPGAPALTSMTPTAVERDVHRQVVVVKEESLHSIL AGSDMTVSQILLTQHGIPVMNLSDGKAYCFNPSLSTWNLVSDKQDSLAQCADFRSSLP SQDAMLCSGPLAIIQGRTSNSGRQAARLFSVPHVVQQETTLAYLENQVAAALTLQSSH EYRHWLLVYARYLVNEGFEYRLREICKDLLGPVHYSTGSQWESTVVGLRKRELLKEML PVIGQNLRFQRLFTECQEQLDILRDK" BASE COUNT 802 a 903 c 986 g 729 t ORIGIN 1 gaattccgat gcggctgtgg tggcggcggc ggcggccgag cgcgggtggc ggctgtggcg 61 gcggaggggg gcgcgggccg gcgatggcgc ggcggccctg agggcgcggg gcgggcggcg 121 gccggagggc gggcggcgcg ggaggaagcg gcggcggtgg ctccatggcc cgggcgcgct 181 gagggacccg gcgctcgcct cagcccggcg gcggcggcgg ccgaacaatg aagctcctga 241 agccgacctg ggtcaaccac aatggcaagc cgattttttc agttgatatt caccctgacg 301 ggaccaagtt cgcaactgga ggacaagggc aggattctgg gaaggttgtg atctggaata 361 tgtctccagt cctccaggag gatgacgaga aggatgaaaa tattcccaag atgctttgcc 421 agatggacaa tcacttagca tgtgtgaact gtgtgcggtg gtcaaacagt gggatgtatt 481 tagcttctgg gggagatgac aaactgatta tggtgtggaa gcgggctacg tacatcggcc 541 ccagcaccgt gttcggctcc agtggtaagc ttgccaatgt ggagcagtgg cggtgtgtct 601 ctatcctccg gaatcattca ggcgatgtga tggatgtagc atggtctccc cacgatgcct 661 ggctagcctc atgcagcgtg gataacactg tcgtcatctg gaatgctgta aagttcccag 721 aaattctagc tactctgaga ggtcattctg gcttggtcaa agggttgaca tgggaccctg 781 ttggtaaata catagcttct caagctgatg accgcagcct aaaggtgtgg aggacgctgg 841 actggcagtt ggagaccagc atcaccaagc cttttgatga gtgtggagga acgacccatg 901 tgttgcggct cagctggtca cctgatgggc attacctggt gtctgcccat gccatgaaca 961 actcaggccc cactgcccag atcatcgaac gggagggatg gaagaccaac atggactttg 1021 ttgggcaccg gaaagctgtg actgtcgtga aattcaaccc aaaaatcttc aaaaagaagc 1081 agaagaatgg gagttctgcg aagcctagct gcccgtactg ctgctgtgct gttggcagca 1141 aggaccgctc gctttctgtc tggctcacat gtctgaaacg gccgctggtg gtcatccatg 1201 aactgtttga caaatccatc atggatattt cctggactct gaatgggctg ggcatcttgg 1261 tatgctctat ggacggctct gtggcattcc tcgacttctc ccaggatgag cttggcgatc 1321 ccctgagcga ggaggagaag agccgcattc accagtccac ctatggcaag agcctagcca 1381 tcatgaccga ggcccagctc tccacagccg tcattgagaa ccctgagatg ctcaagtacc 1441 agcgaaggca gcagcagcag cagctggacc agaagagtgc tgcgaccagg gagatgggct 1501 cagccacctc agtcgcaggc gttgtcaacg gggagagtct tgaagatatc aggaagaatc 1561 ttttgaagaa acaagttgag actcggacag cagatggccg gagaagaatc acgcctctct 1621 gcatagcaca gctggacact ggggacttct ccacggcatt ctttaacagc atccccctct 1681 cgggctccct ggcgggcacc atgctctctt ctcatagcag tccacagcta ctgccactgg 1741 actccagtac ccctaactcc ttcggcgcct cgaagccttg cacagagcct gtggtggctg 1801 ccagtgccag acctgcaggc gattctgtca ataaagacag tatgaatgct acctctactc 1861 ctgctgcatt gtcaccttct gtgttaacga ccccgtccaa gatcgaaccc atgaaagcgt 1921 ttgactcccg gttcacagag cggtccaaag ccacaccagg tgctcctgcc ctgaccagca 1981 tgactccgac agctgtggaa agggatgttc acagacaggt ggttgtggtg aaagaagagt 2041 ctctacactc catcctggca ggaagtgata tgacggtatc acagatcttg ctgacgcagc 2101 atggaatccc agtaatgaac ctgtccgatg ggaaggcgta ctgctttaat ccgtcacttt 2161 ccacatggaa cctggtttct gacaagcagg actcactggc tcagtgtgca gactttagga 2221 gcagcctgcc atcccaggac gccatgctgt gctcaggacc gttagccata atccagggcc 2281 gcacctccaa ctcgggaagg caggctgccc ggctcttctc cgtgcctcat gtggtgcagc 2341 aagagaccac cctggcctac ctagagaacc aggtggcagc agcactcacc ctgcagtcca 2401 gccacgagta ccgccattgg ctcctcgtct acgcacggta cctcgtaaac gaagggtttg 2461 aataccgact tcgagaaata tgcaaggact tactgggtcc ggttcactac tccactggaa 2521 gccagtggga gtcaacagta gtgggtctgc ggaagaggga gctgctgaag gagatgctac 2581 cagtcatcgg gcagaacctc cgattccagc gcctcttcac cgagtgtcag gaacagctcg 2641 acatcctgag ggacaagtag cctgccccag cctgccctgg ctgcagcaag ggcagggcca 2701 cactctcgcc gctgatgaca tgcaggaccg cctctcacct gaccaggctg tagggggagg 2761 agacactggc aggagatgtg ctgtcctgca ccagcgccag cccagctccc tgggcagatg 2821 tgccctgtgt cctgggtctg acattgcctc aggaggggaa gctcatccct ccctccaagc 2881 ccccgatgcg gagctagggc tggagctctg ccaggtgccc tggggccagc aaggcagtcc 2941 caggcctgcc gtctccagca cggccccaag gtggacacta gcccctgctg ctgcaggcgc 3001 catgctgctt cagcagtgac gattgagcca tttgtgagag agaatccgga agcgttaggt 3061 attacagcag actgacctaa gacctatgta aaaggaaagc tgttccaaca cacggactat 3121 ttttgtacta gaatttgcta acttgtaata ttgaatttcc tttggccgat aatcaggatt 3181 tccctataag tcacttggac attggtcact tgtaggaaat ttaaactcta attatgacag 3241 ctacactgaa aaataattgt actgaaatta acttgtctat cttcatttgg ttttattttt 3301 aaatgtttgt aaaaagagac tgttttgggg gaatgggggc aaaggggtgg gcgatttctt 3361 ttgtaagtgt aaaataaatg aacacgcatt gaataccaaa aaaaaaaaaa aaaaaaaaaa //