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
//