LOCUS DQ438880 1105 bp mRNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TE2 (GLIS3) mRNA, exons 18, 25, 27, 28.2 and partial cds, alternatively spliced. ACCESSION DQ438880 VERSION DQ438880.1 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 1105) 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 1105) 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..1105 /db_xref="H-InvDB:HIT000343340" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 3' RACE PCR" gene <1..1105 /gene="GLIS3" CDS <1..748 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=2 /product="GLIS family zinc finger 3 transcript variant TE2" /protein_id="ABE66437.1" /translation="DDDGEMDGIGGKHCCRWIDCSALYDQQEELVRHIEKVHIDQRKG EDFTCFWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCEKAFSRLENLKIHLR SHTGEKPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCTKRYTDPSSLRKH VKAHSSKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAEGTVGRSPGPGP DLYSGKDSKGRANHNYPFLGLLLWLKGMLT" exon <1..250 /gene="GLIS3" /number=18 exon 251..412 /gene="GLIS3" /number=25 exon 413..523 /gene="GLIS3" /number=27 exon 524..1105 /gene="GLIS3" /number=28.2 BASE COUNT 296 a 289 c 261 g 259 t ORIGIN 1 ggacgacgac ggggagatgg acggcatcgg gggcaagcat tgctgccgct ggatcgactg 61 cagcgccctg tacgaccagc aggaggagct cgtgcggcac atcgagaagg tccacatcga 121 ccagcgcaaa ggggaggact tcacttgctt ctgggccggt tgccctcgaa gatacaagcc 181 cttcaacgcc cgctataaac tgctgatcca catgagagtc cactctgggg agaagcccaa 241 caagtgtacg tttgaaggtt gcgagaaggc cttttcaagg cttgaaaatc tcaagatcca 301 cttgcggagc cacacaggcg agaagccgta tttgtgccag catccgggtt gtcagaaggc 361 cttcagtaac tccagtgacc gcgccaaaca ccagcggacg catctggaca ccaaacctta 421 tgcttgtcaa attccaggat gtaccaaacg ctacacagac ccaagttccc taagaaagca 481 tgtgaaggca cattcttcca aagagcaaca agcaaggaaa aagttgcggt ccagcacaga 541 gctccatcca gacctgctca cagattgcct caccgtgcag tccctgcagc cggccacttc 601 ccctagagat gctgctgctg aagggaccgt gggacgctcc cctggacccg ggcctgacct 661 ctattcaggt aaagacagca aaggcagagc caaccacaac tacccttttt taggcctttt 721 actctggtta aaaggaatgc tcacgtgaga aaaattttcc taagatcgtc tgtgttgttc 781 tttatcaatg ggctgcaaat tgctctccac cccttctgat tcctgagctg ggtgtggcag 841 cagattgttt tttctcataa agaaataaaa taaaataatg cattacctct tttagttatg 901 gacttctgcc agaaattcag tgtacccaac cctcgcagtt atgttacatt tactcacttg 961 atttagactc gaaggaaatg tttcctcctt aagcaggtag caggctgcgt gtggatttct 1021 taatgaaaca gttgttgtca tctttatgtt ttaaaaggaa gccccaggtc tctaaggaaa 1081 ttttcacatc agcaaaccaa cttat //