LOCUS DQ438896 458 bp mRNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TS12 (GLIS3) mRNA, exons 9, 17, 18 and partial cds, alternatively spliced. ACCESSION DQ438896 VERSION DQ438896.1 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 458) 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 458) 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..458 /db_xref="H-InvDB:HIT000343356" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 5' RACE PCR" gene 1..>458 /gene="GLIS3" exon 1..113 /gene="GLIS3" /number=9 CDS 101..>458 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=1 /product="GLIS family zinc finger 3 transcript variant TS12" /protein_id="ABE66448.1" /translation="MIQLGALGFGPQCKSIGKGSCNNLVVTSSPMMVQRLGLISPPAS QVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLTESQSASSMKQEW SQGYRALPSLSNHGSQN" exon 114..321 /gene="GLIS3" /number=17 exon 322..>458 /gene="GLIS3" /number=18 BASE COUNT 108 a 128 c 115 g 107 t ORIGIN 1 agttccaagt tactcactgg agctgacaag tcacctcggg gaccgggaag tcactcaagt 61 gtctggaaat cttggccctg gctgatttgt catcctatgg atgattcaat taggggctct 121 tggctttggg cctcagtgca agtccattgg aaaaggcagc tgcaacaatc tagtggtcac 181 cagcagtccc atgatggttc agcgactggg actcatttca cctccagcaa gccaggtctc 241 tacagcatgc aaccagatca gtcctagctt acagagggca atgaatgcag ccaacctgaa 301 tatacctcct tcagatacca ggtcccttat ttcgcgtgag tctttggcgt ccacgacctt 361 gagtctgacg gaaagtcagt cggcctcaag catgaagcag gagtggtccc agggctacag 421 ggccctccct tcgctctcca accacggctc tcagaatg //