Gene/Proteome Database (LMPD)

LMPD ID
LMP001669
Gene ID
80270
Species
Homo sapiens (Human)
Gene Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Gene Symbol
HSD3B7
Synonyms
CBAS1; PFIC4; SDR11E3
Alternate Names
3 beta-hydroxysteroid dehydrogenase type 7; 3-beta-HSD VII; C(27)-3BETA-HSD; c(27) 3-beta-HSD; 3 beta-hydroxysteroid dehydrogenase type VII; 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; short chain dehydrogenase/reductase family 11E, member 3
Chromosome
16
Map Location
16p11.2
EC Number
1.1.1.-
Summary
This 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]
Orthologs
View 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 REVIEWED
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRVTAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRGGLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVLAARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAALNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILWVQAATGSAQ
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 REVIEWED
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRVTAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKAMLPGCTCWQPGSWSSGQP
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 REVIEWED
Protein sequence is identical to GI:218563684 (mRNA isoform)

Gene Information

Entrez Gene ID
80270
Gene Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Gene Symbol
HSD3B7
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0003854 NAS:UniProtKB F 3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0047016 IEA:UniProtKB-EC F cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity
GO:0006699 TAS:UniProtKB P bile acid biosynthetic process
GO:0008206 TAS:Reactome P bile acid metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00120 Primary bile acid biosynthesis

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY-6061 bile acid biosynthesis, neutral pathway

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_11048 Synthesis of bile acids and bile salts via 27-hydroxycholesterol

Domain Information

InterPro Annotations

Accession Description
IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
IPR016040 NAD(P)-binding domain

UniProt Annotations

Entry Information

Gene Name
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Protein Entry
3BHS7_HUMAN
UniProt ID
Q9H2F3
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H2F3-1; Sequence=Displayed; Name=2; IsoId=Q9H2F3-2; Sequence=VSP_042658; Note=No experimental confirmation available.;
Catalytic Activity 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = 3- oxo-Delta(5)-steroid + NADH.
Catalytic Activity Cholest-5-ene-3-beta,7-alpha-diol + NAD(+) = 7-alpha-hydroxycholest-4-en-3-one + NADH.
Disease Congenital bile acid synthesis defect 1 (CBAS1) [MIM
Function The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis.
Pathway Lipid metabolism; steroid biosynthesis.
Similarity Belongs to the 3-beta-HSD family.
Subcellular Location Endoplasmic reticulum membrane; Multi-pass membrane protein.

Identical and Related Proteins

Unique RefSeq proteins for LMP001669 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
19923621 RefSeq NP_079469 369 3 beta-hydroxysteroid dehydrogenase type 7 isoform a
218563684 RefSeq NP_001136249 196 3 beta-hydroxysteroid dehydrogenase type 7 isoform b

Identical Sequences to LMP001669 proteins

Reference Database Accession Length Protein Name
GI:218563684 DBBJ BAB71486.1 196 unnamed protein product [Homo sapiens]
GI:218563684 DBBJ BAF83639.1 196 unnamed protein product [Homo sapiens]
GI:218563684 DBBJ BAF84757.1 196 unnamed protein product [Homo sapiens]
GI:19923621 GenBank AAH04929.1 369 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Homo sapiens]
GI:218563684 GenBank ABE15623.1 196 Sequence 3146 from patent US 6979557
GI:218563684 GenBank EAW52183.1 196 hCG1998636, isoform CRA_d [Homo sapiens]
GI:19923621 GenBank ABW03858.1 369 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [synthetic construct]
GI:19923621 GenBank ABW03859.1 369 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [synthetic construct]
GI:218563684 RefSeq NP_001136250.1 196 3 beta-hydroxysteroid dehydrogenase type 7 isoform b [Homo sapiens]
GI:19923621 SwissProt Q9H2F3.2 369 RecName: Full=3 beta-hydroxysteroid dehydrogenase type 7; AltName: Full=3 beta-hydroxysteroid dehydrogenase type VII; Short=3-beta-HSD VII; AltName: Full=3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; Short=C(27) 3-beta-HSD; AltName: Full=Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase [Homo sapiens]

Related Sequences to LMP001669 proteins

Reference Database Accession Length Protein Name
GI:19923621 EMBL CAD19399.1 369 unnamed protein product [Homo sapiens]
GI:19923621 EMBL CAD19400.1 369 unnamed protein product, partial [Homo sapiens]
GI:19923621 EMBL CBX51406.1 369 unnamed protein product [Homo sapiens]
GI:218563684 GenBank AAR55664.1 369 Sequence 4 from patent US 6613554
GI:19923621 GenBank ABH81981.1 369 Sequence 8 from patent US 7045325
GI:19923621 GenBank AIC58601.1 369 HSD3B7, partial [synthetic construct]
GI:218563684 RefSeq XP_003315114.1 196 PREDICTED: 3 beta-hydroxysteroid dehydrogenase type 7 isoform X3 [Pan troglodytes]
GI:218563684 RefSeq XP_001500969.2 196 PREDICTED: 3 beta-hydroxysteroid dehydrogenase type 7 isoform X1 [Equus caballus]
GI:19923621 RefSeq XP_005255658.1 470 PREDICTED: 3 beta-hydroxysteroid dehydrogenase type 7 isoform X1 [Homo sapiens]
GI:218563684 RefSeq XP_008957869.1 297 PREDICTED: 3 beta-hydroxysteroid dehydrogenase type 7 isoform X3 [Pan paniscus]
GI:218563684 RefSeq XP_008957870.1 196 PREDICTED: 3 beta-hydroxysteroid dehydrogenase type 7 isoform X4 [Pan paniscus]
GI:218563684 RefSeq XP_010360543.1 196 PREDICTED: 3 beta-hydroxysteroid dehydrogenase type 7 isoform X2 [Rhinopithecus roxellana]