LOCUS DQ438886 1327 bp mRNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TS2 (GLIS3) mRNA, exons 8.1, 10.3, 17, 18 and partial cds, alternatively spliced. ACCESSION DQ438886 VERSION DQ438886.1 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 1327) 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 1327) 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..1327 /db_xref="H-InvDB:HIT000343346" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 5' RACE PCR" gene 1..>1327 /gene="GLIS3" exon 1..496 /gene="GLIS3" /number=8.1 exon 497..982 /gene="GLIS3" /number=10.3 CDS 595..>1327 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=1 /product="GLIS family zinc finger 3 transcript variant TS2" /protein_id="ABE66438.1" /translation="MNGRSCSMSLHRTSGTPQGPRMVSGHHIPAIRAHSGTPGPSPCG STSSPTMASLANNLHLKMPSGGGMAPQNNVAESRIHLPALSPRRQMLTNGKPRFQVTQ AGGMSGSHTLKPKQQEFGSPFPPNPGKGALGFGPQCKSIGKGSCNNLVVTSSPMMVQR LGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLTESQ SASSMKQEWSQGYRALPSLSNHGSQN" exon 983..1190 /gene="GLIS3" /number=17 exon 1191..>1327 /gene="GLIS3" /number=18 BASE COUNT 286 a 417 c 363 g 261 t ORIGIN 1 cgggaccccc tgtacgccgt ccgcgccgtc cagggtcaca ccggcgacgg aacccgccgg 61 cagcaattag ccagcatccc ggggtcggcc cccagaagca ttccccggcc caggacgagg 121 atgaacagga caggcgaggc acaaagtcgc aactgaactt tttagaaaca ttatttgtgt 181 gtgtatgtgt gtagcagggg agaatgagct gatgccgagg gtccagccac cccgcctctg 241 cctcctcctc cccctgccgc cgctgccctc gcagacgcgc gcgcacacac ggcacttggg 301 ccgggtttcc gcgctccgtc cccccgtttg gatgggggtt ttcatttccg aaggaggcac 361 agcccgcgga gcgctctgaa gggctggagc cccaagttac tcctcgccag cgccggccgc 421 ccgctgtcac tcgcgctggc cggccggggg aagggacccg cacgccgggc tttgttgtgg 481 aaatcccggt tacctggctt ataacccaca ccatggataa cttattggac tttgcctgaa 541 aggagtcatt agtgacattg gatatttgac cgtcttggcc acaggttttt cagaatgaat 601 ggaagatcat gcagcatgag tctccaccgg acatcgggaa ccccacaggg gcctaggatg 661 gtcagtggtc atcacattcc tgccatccga gcccactccg ggactcctgg cccctcgccc 721 tgtggcagca catcgagtcc cactatggca agccttgcta acaacctcca tctcaagatg 781 ccctcaggag gagggatggc tcctcagaac aacgtggctg agagccgcat ccatctgcct 841 gccttaagcc ccaggagaca aatgctcacc aatgggaagc cgcgattcca ggtcacccag 901 gctggaggca tgtcagggtc acatacttta aagccaaagc agcaggagtt tggaagccct 961 tttcctccaa atcctgggaa aggggctctt ggctttgggc ctcagtgcaa gtccattgga 1021 aaaggcagct gcaacaatct agtggtcacc agcagtccca tgatggttca gcgactggga 1081 ctcatttcac ctccagcaag ccaggtctct acagcatgca accagatcag tcctagctta 1141 cagagggcaa tgaatgcagc caacctgaat atacctcctt cagataccag gtcccttatt 1201 tcgcgtgagt ctttggcgtc cacgaccttg agtctgacgg aaagtcagtc ggcctcaagc 1261 atgaagcagg agtggtccca gggctacagg gccctccctt cgctctccaa ccacggctct 1321 cagaatg //