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MGP005982

Record overview

MGPD IDMGP005982
Gene ID80270
SpeciesHomo sapiens (Human)
Gene Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Gene Symbol HSD3B7
SynonymsCBAS1; PFIC4; SDR11E3;
Alternate names3 beta-hydroxysteroid dehydrogenase type 7; 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; C(27)-3BETA-HSD; c(27) 3-beta-HSD; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; short chain dehydrogenase/reductase family 11E, member 3;
Chromosome16
Map Location16p11.2
EC Number1.1.1.-
SummaryThis gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
OrthologsView orthologs and multiple alignments for HSD3B7

Proteins

3 beta-hydroxysteroid dehydrogenase type 7 isoform a
Refseq ID:NP_079469
Protein GI:19923621
UniProt ID:Q9H2F3
mRNA ID:NM_025193
Length:369
RefSeq Status:
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRVTAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKT
IHEVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRGGLPLVTCALRPTGIYGEGHQ
IMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVLAARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAA
LNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILWVQAATGSAQ
 
3 beta-hydroxysteroid dehydrogenase type 7 isoform b
Refseq ID:NP_001136249
Protein GI:218563684
UniProt ID:Q9H2F3
mRNA ID:NM_001142777
Length:196
RefSeq Status:
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRVTAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKT
IHEVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKAMLPGCTCWQPGSWSSGQP
 
3 beta-hydroxysteroid dehydrogenase type 7 isoform b
Refseq ID:NP_001136250
Protein GI:218563686
UniProt ID:Q9H2F3
mRNA ID:NM_001142778
Length:196
RefSeq Status:
Protein sequence is identical to GI:218563684 (mRNA isoform)
 
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