LOCUS DQ438878 1556 bp mRNA linear HUM 09-JUN-2006 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TS1 (GLIS3) mRNA, complete cds, alternatively spliced. ACCESSION DQ438878 VERSION DQ438878.1 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 1556) 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 1556) 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..1556 /db_xref="H-InvDB:HIT000343338" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 5' RACE PCR" gene 1..>1556 /gene="GLIS3" exon 1..367 /gene="GLIS3" /number=18.2 CDS 134..1450 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=1 /product="GLIS family zinc finger 3 transcript variant TS1" /protein_id="ABE66435.1" /translation="MDGIGGKHCCRWIDCSALYDQQEELVRHIEKVHIDQRKGEDFTC FWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCEKAFSRLENLKIHLRSHTGE KPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCTKRYTDPSSLRKHVKAHS SKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAEGTVGRSPGPGPDLYSA PIFSSNYSSRSGTAAGAVPPPHPVSHPSPGHNVQGSPHNPSSQLPPLTAVDAGAERFA PSAPSPHHISPRRVPAPSSILQRTQPPYTQQPSGSHLKSYQPETNSSFQPNGIHVHGF YGQLQKFCPPHYPDSQRIVPPVSSCSVVPSFEDCLVPTSMGQASFDVFHRAFSTHSGI TVYDLPSSSSSLFGESLRSGAEDATFLQISTVDRCPSQLSSVYTEG" exon 368..529 /gene="GLIS3" /number=25 exon 530..640 /gene="GLIS3" /number=27 exon 641..785 /gene="GLIS3" /number=28.1 exon 786..954 /gene="GLIS3" /number=29 exon 955..1130 /gene="GLIS3" /number=30.3 exon 1131..1313 /gene="GLIS3" /number=31 exon 1314..>1556 /gene="GLIS3" /number=32 BASE COUNT 349 a 518 c 361 g 328 t ORIGIN 1 gctccctcct ctgccgccgc ccccaggccc cccaccccct taccatgccc atgcgcacct 61 tcaccacccg gagctcgggc cccacgccca gcagctggcc ttgccccagg ccaccctgga 121 cgacgacggg gagatggacg gcatcggggg caagcattgc tgccgctgga tcgactgcag 181 cgccctgtac gaccagcagg aggagctcgt gcggcacatc gagaaggtcc acatcgacca 241 gcgcaaaggg gaggacttca cttgcttctg ggccggttgc cctcgaagat acaagccctt 301 caacgcccgc tataaactgc tgatccacat gagagtccac tctggggaga agcccaacaa 361 gtgtacgttt gaaggttgcg agaaggcctt ttcaaggctt gaaaatctca agatccactt 421 gcggagccac acaggcgaga agccgtattt gtgccagcat ccgggttgtc agaaggcctt 481 cagtaactcc agtgaccgcg ccaaacacca gcggacgcat ctggacacca aaccttatgc 541 ttgtcaaatt ccaggatgta ccaaacgcta cacagaccca agttccctaa gaaagcatgt 601 gaaggcacat tcttccaaag agcaacaagc aaggaaaaag ttgcggtcca gcacagagct 661 ccatccagac ctgctcacag attgcctcac cgtgcagtcc ctgcagccgg ccacttcccc 721 tagagatgct gctgctgaag ggaccgtggg acgctcccct ggacccgggc ctgacctcta 781 ttcagctccc attttctcca gcaattattc aagccgaagt ggaacagctg ctggggccgt 841 accaccccca catcctgtca gtcacccttc tccaggacat aatgtacagg ggagccctca 901 caacccctcc tcccagttac ctccactcac agctgtggac gcaggagctg agaggtttgc 961 accttctgct ccatctcctc accacatcag cccccggaga gttccagctc cttcttcaat 1021 actgcaaaga acacagcctc cctataccca gcagccatca ggttcacacc tgaagtccta 1081 tcagccagaa acaaactctt cttttcaacc aaatggtatc catgtccatg gattttatgg 1141 gcagctgcag aagttctgtc ccccacacta ccccgattcc cagagaattg tgccgcctgt 1201 cagctcctgc agtgtggtgc cttcgtttga ggactgccta gtccctacat ccatgggcca 1261 ggccagtttt gatgttttcc acagagcctt ctcgactcac tcgggcatta cagtgtatga 1321 tttaccttca agttcctcga gcctctttgg ggagtctctc cgcagcgggg ctgaagatgc 1381 taccttcttg cagatcagca ccgtggaccg ctgtcctagc cagctctcct ctgtctacac 1441 cgaaggctaa aagctctctt ggccactcct gcacacccag gaccttgatg ttgcttgcca 1501 ccttttgttt tcgtactctc acagactgct tgaggaagga tgtcagccca atcagc //