LOCUS DQ438892 519 bp mRNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TS8 (GLIS3) mRNA, exons 8.2, 17, 18 and partial cds, alternatively spliced. ACCESSION DQ438892 VERSION DQ438892.1 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 519) 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 519) 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..519 /db_xref="H-InvDB:HIT000343352" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 5' RACE PCR" gene 1..>519 /gene="GLIS3" exon 1..174 /gene="GLIS3" /number=8.2 exon 175..382 /gene="GLIS3" /number=17 CDS 252..>519 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=1 /product="GLIS family zinc finger 3 transcript variant TS8" /protein_id="ABE66444.1" /translation="MMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTR SLISRESLASTTLSLTESQSASSMKQEWSQGYRALPSLSNHGSQN" exon 383..>519 /gene="GLIS3" /number=18 BASE COUNT 105 a 159 c 147 g 108 t ORIGIN 1 cccgtttgga tgggggtttt catttccgaa ggaggcacag cccgcggagc gctctgaagg 61 gctggagccc caagttactc ctcgccagcg ccggccgccc gctgtcactc gcgctggccg 121 gccgggggaa gggacccgca cgccgggctt tgttgtggaa atcccggtta cctggggctc 181 ttggctttgg gcctcagtgc aagtccattg gaaaaggcag ctgcaacaat ctagtggtca 241 ccagcagtcc catgatggtt cagcgactgg gactcatttc acctccagca agccaggtct 301 ctacagcatg caaccagatc agtcctagct tacagagggc aatgaatgca gccaacctga 361 atatacctcc ttcagatacc aggtccctta tttcgcgtga gtctttggcg tccacgacct 421 tgagtctgac ggaaagtcag tcggcctcaa gcatgaagca ggagtggtcc cagggctaca 481 gggccctccc ttcgctctcc aaccacggct ctcagaatg //