GenBank-Updates@genbank.bio.net (02/01/91)
LOCUS HUMURODA 976 bp ds-DNA PRI 01-FEB-1991 DEFINITION Human uroporphyrinogen decarboxylase (URO-D) gene, partial cds. ACCESSION M60891 KEYWORDS uroporphyrinogen decarboxylase. SOURCE Human DNA. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 976) AUTHORS Garey,J.R., Harrison,L.M., Franklin,K.M., Metclaf,K.M., Radisky,E.S. and Kushner,J.P. TITLE Uroporphyrinogen decarboxylase: A splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda JOURNAL J. Clin. Invest. 86, 1416-1422 (1990) STANDARD simple staff_entry FEATURES Location/Qualifiers CDS join(1..192,309..470,848..976) /gene="URO-D" /partial /product="uroporphyrinogen decarboxylase" mRNA join(1..192,309..470,848..976) /gene="URO-D" /partial exon 1..192 /number=5 /gene="URO-D" /codon_start=1 intron 193..308 /number=5 /gene="URO-D" exon 309..470 /number=6 /gene="URO-D" /codon_start=309 intron 471..847 /number=6 /gene="URO-D" mutation 471..471 /note="replace(471,`c') causes exon 6 to be deleted from the mRNA thus inactivating the protein's catalytic activity" /gene="URO-D" exon 848..976 /number=7 /gene="URO-D" /codon_start=848 BASE COUNT 232 a 222 c 284 g 238 t ORIGIN 1 ggcatggagg tgaccatggt acctagcaaa ggacccagct tcccagagcc attaagagaa 61 gagcaggacc tagaagcgct acgggatcca gaagtggtag cctctgagct aggctatgtg 121 ttccaagcca tcacccttac ccgacaacga ctggctggac gtgtgccgct gattggcttt 181 gctggtgccc cagtaatgtg ggacagggca gggactcggg gcgcggcaga tcactctgga 241 aggtctgggg tagacaaaag gaagggtcag tctggcttct gtgacaccat ctttctatcc 301 ttctctagtg gaccctgatg acatacatgg ttgagggtgg tggctcaagc accatggctc 361 aggccaagcg ctggctctat cagagacctc aggctagtca ccagctgctt cgcatcctca 421 ctgatgctct ggtcccatat ctggtaggac aagtggtggc tggtgcccag gtgagtcctg 481 agagagagag aaataggctt ggatttggtc tgtaaggacc agaagcaaga gtgtctaaac 541 ctgagagggc aggggtctta atgccaggga tgaaagaacc ttggcctcca gtgatctagc 601 tgagcagcca agcccatcct gacactgaca gtggggctta atgctctaag tattcagaca 661 ccaaagttag tgctgggatc tgaggaaagt aaaatttttt ttttttaatt actgggtttt 721 tagggtcagg cagtatcagg gattgaagtc atttgggaaa aattgaggtg gaattttgta 781 tgtgggggaa acttcctctt tgtgtgttac atatttttct tcaccatacc ctaactaggc 841 attgcagctg tttgagtccc atgcagggca tcttggccca cagctcttca acaagtttgc 901 actgccttac atccgtgatg tggccaagca agtgaaggcc aggttgcggg aggcaggcct 961 ggcaccagtg cccatg //