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
//