LOCUS DQ438893 693 bp mRNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TS9 (GLIS3) mRNA, exons 14, 17, 18 and partial cds, alternatively spliced. ACCESSION DQ438893 VERSION DQ438893.1 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 693) 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 693) 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..693 /db_xref="H-InvDB:HIT000343353" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 5' RACE PCR" gene 1..>693 /gene="GLIS3" exon 1..348 /gene="GLIS3" /number=14 exon 349..556 /gene="GLIS3" /number=17 CDS 426..>693 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=1 /product="GLIS family zinc finger 3 transcript variant TS9" /protein_id="ABE66445.1" /translation="MMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTR SLISRESLASTTLSLTESQSASSMKQEWSQGYRALPSLSNHGSQN" exon 557..>693 /gene="GLIS3" /number=18 BASE COUNT 183 a 186 c 155 g 169 t ORIGIN 1 catttgtcag atgctttcct ctctgcactc cagcctttgc tgaatgtcct ggcagttcct 61 gaatgttcct gctgcctgca ttttataaaa ccaaagagca agtagccctg gaaatgtatg 121 ccaagtactc tgcacagctg tctgaggccc ccagccaagg gcaagatata aacaatctat 181 acccacacag gtacacaagc agacactgca tatggaagcc ccgcagtgca aggacttctt 241 acttctaaca ctttaaaatg tcagtggcca aacagcctga gaacatgaat aatttaagca 301 tgagatgctt ttgctgatga ttttgatcat ttttcaggaa gaataatggg gctcttggct 361 ttgggcctca gtgcaagtcc attggaaaag gcagctgcaa caatctagtg gtcaccagca 421 gtcccatgat ggttcagcga ctgggactca tttcacctcc agcaagccag gtctctacag 481 catgcaacca gatcagtcct agcttacaga gggcaatgaa tgcagccaac ctgaatatac 541 ctccttcaga taccaggtcc cttatttcgc gtgagtcttt ggcgtccacg accttgagtc 601 tgacggaaag tcagtcggcc tcaagcatga agcaggagtg gtcccagggc tacagggccc 661 tcccttcgct ctccaaccac ggctctcaga atg //