LOCUS DQ438879 1585 bp mRNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TE1 (GLIS3) mRNA, exons 18, 25, 27 through 30.4 and partial cds, alternatively spliced. ACCESSION DQ438879 VERSION DQ438879.1 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 1585) 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 1585) 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..1585 /db_xref="H-InvDB:HIT000343339" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 3' RACE PCR" gene <1..1585 /gene="GLIS3" CDS <1..1054 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=2 /product="GLIS family zinc finger 3 transcript variant TE1" /protein_id="ABE66436.1" /translation="DDDGEMDGIGGKHCCRWIDCSALYDQQEELVRHIEKVHIDQRKG EDFTCFWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCEKAFSRLENLKIHLR SHTGEKPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCTKRYTDPSSLRKH VKAHSSKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAEGTVGRSPGPGP DLYSAPIFSSNYSSRSGTAAGAVPPPHPVSHPSPGHNVQGSPHNPSSQLPPLTAVDAG AERFAPSAPSPHHISPRRVPAPSSILQRTQPPYTQQPSGSHLKSYQPETNSSFQPNGI HVHGKQEAGSPLSFEK" exon <1..250 /gene="GLIS3" /number=18 exon 251..412 /gene="GLIS3" /number=25 exon 413..523 /gene="GLIS3" /number=27 exon 524..668 /gene="GLIS3" /number=28.1 exon 669..837 /gene="GLIS3" /number=29 exon 838..1585 /gene="GLIS3" /number=30.4 BASE COUNT 383 a 463 c 349 g 390 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 ctattcagct cccattttct ccagcaatta ttcaagccga agtggaacag ctgctggggc 721 cgtaccaccc ccacatcctg tcagtcaccc ttctccagga cataatgtac aggggagccc 781 tcacaacccc tcctcccagt tacctccact cacagctgtg gacgcaggag ctgagaggtt 841 tgcaccttct gctccatctc ctcaccacat cagcccccgg agagttccag ctccttcttc 901 aatactgcaa agaacacagc ctccctatac ccagcagcca tcaggttcac acctgaagtc 961 ctatcagcca gaaacaaact cttcttttca accaaatggt atccatgtcc atggtaagca 1021 agaagctggc agtcccttga gttttgaaaa gtgacattgt gctgttgctt ttcatcttag 1081 ttacctgtcg tggatttcag atgctctgtt ctacaccagg cttaggcttt catgacttgc 1141 ctctaaaatt tcacacttga taggcatgaa atcctatggt attttcctga ctttggcctg 1201 atgatggtat gatttatgac acatcgcact ggtcagctca agttgctggt tttttcattg 1261 gccagggctc taacaccagc aatagcatcc tgtttctaaa caatagacag cccatggaga 1321 aagaaatgac aggagttctt gtgcccaagc atgcctctgc tctgctaggt ttttgctctc 1381 attctcatag gtccacatcc tctccgtcct tcaaggcgca ggtggaatga cacctcctct 1441 ctgaagccct tcctgatccc ccagctgatg tcatctctcc aggctctaaa ctctgatttt 1501 atatcgcctg tctttctctg gtagtattta tgcttcctct accttgtgtt ttacttatct 1561 gtgaataaaa catactttca ctatt //