LOCUS AF029403 1661 bp mRNA linear HUM 15-DEC-1998
DEFINITION Homo sapiens oxysterol 7alpha-hydroxylase (CYP7b1) mRNA, complete
cds.
ACCESSION AF029403
VERSION AF029403.1
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 1661)
AUTHORS Setchell,K.D., Schwarz,M., O'Connell,N.C., Lund,E.G., Davis,D.L.,
Lathe,R., Thompson,H.R., Weslie Tyson,R., Sokol,R.J. and
Russell,D.W.
TITLE Identification of a new inborn error in bile acid synthesis:
mutation of the oxysterol 7alpha-hydroxylase gene causes severe
neonatal liver disease
JOURNAL J. Clin. Invest. 102 (9), 1690-1703 (1998)
PUBMED 9802883
REFERENCE 2 (bases 1 to 1661)
AUTHORS Lund,E.G. and Russell,D.W.
TITLE Direct Submission
JOURNAL Submitted (09-OCT-1997) Department of Molecular Genetics,
University of Texas Southwestern Medical Center at Dallas, 5323
Harry Hines Blvd., Dallas, TX 75235, USA
FEATURES Location/Qualifiers
source 1..1661
/db_xref="H-InvDB:HIT000062981"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q21.3"
/tissue_type="spleen; liver"
gene 1..1661
/gene="CYP7b1"
CDS 135..1655
/gene="CYP7b1"
/codon_start=1
/product="oxysterol 7alpha-hydroxylase"
/protein_id="AAC95426.1"
/translation="MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPG
EPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLV
IKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN
LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLK
FDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYV
HEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRDEIDHLLQSTGQKKG
SGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDL
VAIFPPVLHGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCP
GRFFALMEIKQLLVILLTYFDLEIIDDKPIGLNYSRLLFGIQYPDSDVLFRYKVKS"
BASE COUNT 477 a 363 c 375 g 446 t
ORIGIN
1 ctgcgggcag gccagcctct ccggccctgg actagggggc gccgccgaga gaagccgccg
61 caggctgcag agtcgccgac cgcgctgttc gcaggcagac cccgggctgc ccaccgcggc
121 ctagcgcgcg ccggatggca ggagaagtgt ccgcggccac gggccgcttt tcgctggagc
181 ggttgggcct cccgggcctg gccctcgccg cggccctgct gctcctggcc ctctgcttgc
241 ttgtccggcg caccaggaga cccggtgagc ctccattgat aaaaggttgg cttccttatc
301 ttggagtggt cctgaactta cgaaaagacc ccttaaggtt catgaaaaca cttcaaaagc
361 aacatggtga cactttcaca gttcttcttg gtggaaagta cataacattt atcctggacc
421 ccttccagta ccagctagtg ataaaaaatc ataaacaatt aagctttcga gtattttcta
481 ataaattatt agagaaagca tttagcatca gtcagttgca aaaaaatcat gacatgaatg
541 atgagcttca cctctgctat caatttttgc aaggcaaatc tttggacata ctcttggaaa
601 gcatgatgca gaatctaaaa caagtttttg aaccccagct gttaaaaacc acaagttggg
661 acacggcaga actgtatcca ttctgcagct caataatatt tgagatcaca tttacaacta
721 tatatggaaa agttattgtt tgtgacaaca acaaatttat tagtgagcta agagatgatt
781 ttttaaaatt tgatgacaag tttgcatatt tagtatccaa catacccatt gagcttctag
841 gaaatgtcaa gtctattaga gagaaaatta taaaatgctt ctcatcagaa aagttagcca
901 agatgcaagg atggtcagaa gtttttcaaa gcaggcaaga tgtcctggag aaatattatg
961 tgcacgagga ccttgaaata ggagcacatc atttaggctt tctctgggcc tctgtggcaa
1021 acactattcc aactatgttc tgggcaatgt attatcttct gcggcaccca gaagctatgg
1081 cagcagtgcg tgacgaaatt gaccatttgc tgcagtcaac aggtcaaaag aaagggtctg
1141 gatttcccat ccacctcacc agagaacaat tggacagcct aatctgccta gaaagcagca
1201 tttttgaagc tttacgactg tcctcatatt caaccaccat tcgttttgtt gaggaggatt
1261 tgactctcag ttcagagacc ggggactact gtgtgcgaaa gggagacttg gtagccatct
1321 ttcctccagt cctacatggt gaccctgaaa tctttgaagc tccagaggag tttagatatg
1381 atcgttttat agaagatggt aagaagaaaa ccaccttttt caaaagaggg aaaaagctga
1441 agtgttacct aatgccgttt ggaactggaa ccagcaaatg tccaggccga ttttttgcac
1501 ttatggaaat aaaacaattg ttggttatac ttttaactta ttttgattta gaaataattg
1561 atgataagcc cataggacta aactacagcc gcttgttgtt tggtattcag tatccagatt
1621 ctgatgtttt atttagatac aaagtgaaat cttagagaag c
//