LOCUS DQ438889 1304 bp mRNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TS5 (GLIS3) mRNA, exons 10.2, 17, 18 and partial cds, alternatively spliced. ACCESSION DQ438889 VERSION DQ438889.1 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 1304) AUTHORS Senee,V., Chelala,C., Duchatelet,S., Feng,D., Blanc,H., Cossec,J.C., Charon,C., Nicolino,M., Boileau,P., Cavener,D.R., Bougneres,P., Taha,D. and Julier,C. TITLE Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism JOURNAL Nat. Genet. 38 (6), 682-687 (2006) PUBMED 16715098 REFERENCE 2 (bases 1 to 1304) AUTHORS Julier,C. TITLE Direct Submission JOURNAL Submitted (09-MAR-2006) INSERM U730, Genetique des Maladies Infectieuses et Autoimmunes, Institut Pasteur, 28 rue du Docteur Roux, Paris 75015, France FEATURES Location/Qualifiers source 1..1304 /db_xref="H-InvDB:HIT000343349" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 5' RACE PCR" gene 1..>1304 /gene="GLIS3" exon 1..959 /gene="GLIS3" /number=10.2 CDS 572..>1304 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=1 /product="GLIS family zinc finger 3 transcript variant TS5" /protein_id="ABE66441.1" /translation="MNGRSCSMSLHRTSGTPQGPRMVSGHHIPAIRAHSGTPGPSPCG STSSPTMASLANNLHLKMPSGGGMAPQNNVAESRIHLPALSPRRQMLTNGKPRFQVTQ AGGMSGSHTLKPKQQEFGSPFPPNPGKGALGFGPQCKSIGKGSCNNLVVTSSPMMVQR LGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLTESQ SASSMKQEWSQGYRALPSLSNHGSQN" exon 960..1167 /gene="GLIS3" /number=17 exon 1168..>1304 /gene="GLIS3" /number=18 BASE COUNT 329 a 332 c 316 g 327 t ORIGIN 1 agagatggtt tagtgtcccc atagtctcat ttagaagcca tgtctgcttt gtggttgttt 61 actggaactt tgaagcattg gtctcacagc tcaggtaggt ggtgcttttg ggtttcccaa 121 gacccactgt agcaaaagtg aactagtatg gacagatcct ctagggaaca aaataagttt 181 tgttttgcaa gctggcacca gtagattgtt gtagttgccg agagcactgt attgagaagg 241 gctcagtggc aaacaaaaca atgcagtgat ccataatcca tgtccaccat gagtgcagaa 301 ggggagagtg cctgccaatg agccgtgtat ttgaggaccc ttttctacat aaaaggccat 361 cttgctaaga gtgctgcttt tcttccttat gaatgataca caggttgaaa aactcactgt 421 atcttatttt catttttgct tttaaaaatg cctgcgttta tttttttaaa caggcttata 481 acccacacca tggataactt attggacttt gcctgaaagg agtcattagt gacattggat 541 atttgaccgt cttggccaca ggtttttcag aatgaatgga agatcatgca gcatgagtct 601 ccaccggaca tcgggaaccc cacaggggcc taggatggtc agtggtcatc acattcctgc 661 catccgagcc cactccggga ctcctggccc ctcgccctgt ggcagcacat cgagtcccac 721 tatggcaagc cttgctaaca acctccatct caagatgccc tcaggaggag ggatggctcc 781 tcagaacaac gtggctgaga gccgcatcca tctgcctgcc ttaagcccca ggagacaaat 841 gctcaccaat gggaagccgc gattccaggt cacccaggct ggaggcatgt cagggtcaca 901 tactttaaag ccaaagcagc aggagtttgg aagccctttt cctccaaatc ctgggaaagg 961 ggctcttggc tttgggcctc agtgcaagtc cattggaaaa ggcagctgca acaatctagt 1021 ggtcaccagc agtcccatga tggttcagcg actgggactc atttcacctc cagcaagcca 1081 ggtctctaca gcatgcaacc agatcagtcc tagcttacag agggcaatga atgcagccaa 1141 cctgaatata cctccttcag ataccaggtc ccttatttcg cgtgagtctt tggcgtccac 1201 gaccttgagt ctgacggaaa gtcagtcggc ctcaagcatg aagcaggagt ggtcccaggg 1261 ctacagggcc ctcccttcgc tctccaacca cggctctcag aatg //