LOCUS DQ438890 643 bp mRNA linear HUM 26-JUL-2016 DEFINITION Homo sapiens GLIS family zinc finger 3 transcript variant TS6 (GLIS3) mRNA, exons 10.5, 17, 18 and partial cds, alternatively spliced. ACCESSION DQ438890 VERSION DQ438890.1 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 643) 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 643) 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..643 /db_xref="H-InvDB:HIT000343350" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9p24.2" /note="generated by 5' RACE PCR" gene 1..>643 /gene="GLIS3" exon 1..298 /gene="GLIS3" /number=10.5 CDS 61..>643 /gene="GLIS3" /note="neonatal diabetes mellitus and congenital hypothyroidism syndrome; alternatively spliced" /codon_start=1 /product="GLIS family zinc finger 3 transcript variant TS6" /protein_id="ABE66442.1" /translation="MASLANNLHLKMPSGGGMAPQNNVAESRIHLPALSPRRQMLTNG KPRFQVTQAGGMSGSHTLKPKQQEFGSPFPPNPGKGALGFGPQCKSIGKGSCNNLVVT SSPMMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLAST TLSLTESQSASSMKQEWSQGYRALPSLSNHGSQN" exon 299..506 /gene="GLIS3" /number=17 exon 507..>643 /gene="GLIS3" /number=18 BASE COUNT 154 a 198 c 161 g 130 t ORIGIN 1 atccgagccc actccgggac tcctggcccc tcgccctgtg gcagcacatc gagtcccact 61 atggcaagcc ttgctaacaa cctccatctc aagatgccct caggaggagg gatggctcct 121 cagaacaacg tggctgagag ccgcatccat ctgcctgcct taagccccag gagacaaatg 181 ctcaccaatg ggaagccgcg attccaggtc acccaggctg gaggcatgtc agggtcacat 241 actttaaagc caaagcagca ggagtttgga agcccttttc ctccaaatcc tgggaaaggg 301 gctcttggct ttgggcctca gtgcaagtcc attggaaaag gcagctgcaa caatctagtg 361 gtcaccagca gtcccatgat ggttcagcga ctgggactca tttcacctcc agcaagccag 421 gtctctacag catgcaacca gatcagtcct agcttacaga gggcaatgaa tgcagccaac 481 ctgaatatac ctccttcaga taccaggtcc cttatttcgc gtgagtcttt ggcgtccacg 541 accttgagtc tgacggaaag tcagtcggcc tcaagcatga agcaggagtg gtcccagggc 601 tacagggccc tcccttcgct ctccaaccac ggctctcaga atg //