LOCUS AB045829 991 bp mRNA linear HUM 19-JUL-2000 DEFINITION Homo sapiens mRNA for 3alpha-hydroxysteroid dehydrogenase variant, complete cds. ACCESSION AB045829 VERSION AB045829.1 KEYWORDS DD4; AKR1C4; 3alph-hydroxysteroid dehydrogenase type 1; chlordecone reductase. 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 991) AUTHORS Hara,A. TITLE Direct Submission JOURNAL Submitted (11-JUL-2000) to the DDBJ/EMBL/GenBank databases. Contact:Akira Hara Gifu Pharmaceutical University, Labratory of Biochemistry; Mitahora-higashi, Gifu, Gifu 502-8585, Japan REFERENCE 2 AUTHORS Kume,T., Iwasa,H., Shiraishi,H., Yokoi,T., Nagashima,K., Otsuka,M., Terada,T., Takagi,T., Hara,A. and Kamataki,T. TITLE Characterization of a novel variant (S145C/L311V) of 3alpha-hydroxysteroid/dihydrodiol dehydrogenase in human liver JOURNAL Pharmacogenetics 9, 763-771 (1999) COMMENT FEATURES Location/Qualifiers source 1..991 /db_xref="H-InvDB:HIT000059449" /db_xref="taxon:9606" /mol_type="mRNA" /organism="Homo sapiens" /tissue_lib="liver" /tissue_type="liver" CDS 1..972 /codon_start=1 /EC_number="1.1.1.213" /note="The product shows three- to five-fold decreases in catalytic efficiency for xenobiotic and steroidal substrates compared to AKR1C4. The frequency of the variant gene by a genomic DNA analysis is about 20" /product="3alpha-hydroxysteroid dehydrogenase variant" /protein_id="BAA99542.1" /standard_name="dihydrodiol dehydrogenase 4" /transl_table=1 /translation="MDPKYQRVELNDGHFMPVLGFGTYAPPEVPRNRAVEVTKLAIEA GFRHIDSAYLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWCTFFQPQMVQPALESS LKKLQLDYVDLYLLHFPMALKPGETPLPKDENGKVIFDTVDLCATWEVMEKCKDAGLA KSIGVSNFNCRQLEMILNKPGLKYKPVCNQVECHPYLNQSKLLDFCKSKDIVLVAHSA LGTQRHKLWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQR IRENIQVFEFQLTSEDMKVLDGLNRNYRYVVMDFVMDHPDYPFSDEY" BASE COUNT 288 a 223 c 234 g 246 t ORIGIN 1 atggatccca aatatcagcg tgtagagcta aatgatggtc atttcatgcc cgtattggga 61 tttggcacct atgcacctcc agaggttccg aggaacagag ctgtagaggt caccaaatta 121 gcaatagaag ctggcttccg ccatattgat tctgcttatt tatacaataa tgaggagcag 181 gttggactgg ccatccgaag caagattgca gatggcagtg tgaagagaga agacatattc 241 tacacttcaa agctttggtg cactttcttt caaccacaga tggtccaacc agccttggaa 301 agctcactga aaaaacttca actggactat gttgacctct atcttcttca tttcccaatg 361 gctctcaagc caggtgagac gccactacca aaagatgaaa atggaaaagt aatattcgac 421 acagtggatc tctgtgccac atgggaggtc atggagaagt gtaaggatgc aggattggcc 481 aagtccatcg gggtgtcaaa cttcaactgc aggcagctgg agatgatcct caacaagcca 541 ggactcaagt acaagcctgt ctgcaaccag gtagaatgtc atccttacct caaccagagc 601 aaactgctgg atttctgcaa gtcaaaagac attgttctgg ttgcccacag tgctctggga 661 acccaacgac ataaactatg ggtggaccca aactccccag ttcttttgga ggacccagtt 721 ctttgtgcct tagcaaagaa acacaaacga accccagccc tgattgccct gcgctaccag 781 ctgcagcgtg gggttgtggt cctggccaag agctacaatg agcagcggat cagagagaac 841 atccaggttt ttgaattcca gttgacatca gaggatatga aagttctaga tggtctaaac 901 agaaattatc gatatgttgt catggatttt gttatggacc atcctgatta tccattttca 961 gatgaatatt agcatagagg gtgttgcacg a //