HSD3B7 - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Gene

Also Known as CBAS1; PFIC4; SDR11E3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80270

About HSD3B7

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,985,207-30,989,147 (from NCBI)

This gene has 4 transcripts (splice variants), 211 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 10.0), kidney (RPKM 6.4) and 25 other tissues.

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]

HSD3B7 Products (3)

mRNA	Protein	Name
NM_001142777.2	NP_001136249.1	3 beta-hydroxysteroid dehydrogenase type 7 isoform b
NM_001142778.2	NP_001136250.1	3 beta-hydroxysteroid dehydrogenase type 7 isoform b
NM_025193.4	NP_079469.2	3 beta-hydroxysteroid dehydrogenase type 7 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSD3B7 Protein Structure

3Beta_HSD

0
100
200
300
369 a.a.

Protein Preferred Names	Protein Names
3 beta-hydroxysteroid dehydrogenase type 7	3 beta-hydroxy-delta 5-C27-steroid oxidoreductase

HSD3B7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HSD3B7	Q9H2F3	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KRT40	Homo sapiens	Q6A162	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRTAP10-8	Homo sapiens	P60410	Y2H Array	25416956
Intra	HSD3B7	Q9H2F3	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	25416956
Intra	HSD3B7	Q9H2F3	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KRTAP10-9	Homo sapiens	P60411	Validated Y2H	25416956
Intra	HSD3B7	Q9H2F3	KRTAP10-9	Homo sapiens	P60411	Y2H Prey Pooling	25416956
Intra	HSD3B7	Q9H2F3	KRTAP10-7	Homo sapiens	P60409	Validated Y2H	25416956
Intra	HSD3B7	Q9H2F3	KRTAP10-7	Homo sapiens	P60409	Y2H Prey Pooling	25416956
Intra	HSD3B7	Q9H2F3	KRTAP4-2	Homo sapiens	Q9BYR5	Y2H Array	25416956
Intra	HSD3B7	Q9H2F3	KRTAP4-2	Homo sapiens	Q9BYR5	Validated Y2H	25416956
Intra	HSD3B7	Q9H2F3	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	CREB5	Homo sapiens	Q02930-3	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	CREB5	Homo sapiens	Q02930-3	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	LCE4A	Homo sapiens	Q5TA78	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	LCE4A	Homo sapiens	Q5TA78	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KPRP	Homo sapiens	Q5T749	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KPRP	Homo sapiens	Q5T749	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRTAP19-2	Homo sapiens	Q3LHN2	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KRTAP19-2	Homo sapiens	Q3LHN2	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	ANAPC11	Homo sapiens	Q9NYG5-2	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	ANAPC11	Homo sapiens	Q9NYG5-2	Validated Y2H	32296183
Intra	HSD3B7	Q9H2F3	ANAPC11	Homo sapiens	Q9NYG5-2	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	ZBTB42	Homo sapiens	B2RXF5	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	ZBTB42	Homo sapiens	B2RXF5	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	RBP3	Homo sapiens	P10745	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	RBP3	Homo sapiens	P10745	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	NR4A3	Homo sapiens	Q92570	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	NR4A3	Homo sapiens	Q92570	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	ASB12	Homo sapiens	Q8WXK4-2	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	ASB12	Homo sapiens	Q8WXK4-2	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	MEI4	Homo sapiens	A8MW99	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	MEI4	Homo sapiens	A8MW99	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	COMT	Homo sapiens	P21964	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	COMT	Homo sapiens	P21964	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	GLRX3	Homo sapiens	O76003	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	GLRX3	Homo sapiens	O76003	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	RGS17	Homo sapiens	Q9UGC6	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	RGS17	Homo sapiens	Q9UGC6	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	RGS17	Homo sapiens	Q9UGC6	Validated Y2H	32296183
Intra	HSD3B7	Q9H2F3	KRTAP5-9	Homo sapiens	P26371	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRTAP5-9	Homo sapiens	P26371	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KPNA4	Homo sapiens	O00629	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KPNA4	Homo sapiens	O00629	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	TRIM42	Homo sapiens	Q8IWZ5	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	TRIM42	Homo sapiens	Q8IWZ5	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	EFEMP1	Homo sapiens	Q12805	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	EFEMP1	Homo sapiens	Q12805	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	ZNF655	Homo sapiens	Q8N720	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	ZNF655	Homo sapiens	Q8N720	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	HSD3B7	Q9H2F3	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	AGR2	Homo sapiens	O95994	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	AGR2	Homo sapiens	O95994	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	EMG1	Homo sapiens	Q92979	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	EMG1	Homo sapiens	Q92979	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	LINGO1	Homo sapiens	Q96FE5	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	LINGO1	Homo sapiens	Q96FE5	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	C22orf39	Homo sapiens	Q6P5X5	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	C22orf39	Homo sapiens	Q6P5X5	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	HOXA1	Homo sapiens	P49639	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	HOXA1	Homo sapiens	P49639	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	SPRY2	Homo sapiens	O43597	Validated Y2H	25416956
Intra	HSD3B7	Q9H2F3	SPRY2	Homo sapiens	O43597	Y2H Prey Pooling	25416956
Intra	HSD3B7	Q9H2F3	SPRY2	Homo sapiens	O43597	Y2H Array	25416956
Intra	HSD3B7	Q9H2F3	EFEMP2	Homo sapiens	O95967	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	EFEMP2	Homo sapiens	O95967	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	APPBP2	Homo sapiens	Q92624	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	APPBP2	Homo sapiens	Q92624	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
Intra	HSD3B7	Q9H2F3	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	RUSF1	Homo sapiens	Q96GQ5	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	RUSF1	Homo sapiens	Q96GQ5	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	OTX2	Homo sapiens	P32243-2	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	OTX2	Homo sapiens	P32243-2	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	NOTCH2NLA	Homo sapiens	Q7Z3S9	Validated Y2H	25416956
Intra	HSD3B7	Q9H2F3	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	25416956
Intra	HSD3B7	Q9H2F3	FBLN2	Homo sapiens	P98095	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	FBLN2	Homo sapiens	P98095	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KRT31	Homo sapiens	Q15323	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	ARID5A	Homo sapiens	Q03989	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	ARID5A	Homo sapiens	Q03989	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	EGFL7	Homo sapiens	Q9UHF1	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	EGFL7	Homo sapiens	Q9UHF1	Validated Y2H	32296183
Intra	HSD3B7	Q9H2F3	EGFL7	Homo sapiens	Q9UHF1	Y2H Array	32296183
Intra	HSD3B7	Q9H2F3	KRT86	Homo sapiens	O43790	Y2H Prey Pooling	32296183
Intra	HSD3B7	Q9H2F3	KRT86	Homo sapiens	O43790	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bile Acid Synthesis Defect, Congenital, 1	CBAS1 Congenital Bile Acid Synthesis Defect 1 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Congenital Bile Acid Synthesis Defect Type 1 Basd1 Congenital Bile Acid Synthesis Defect, Type 1 3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of 3beta-Hsdh Deficiency 3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency 3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Neonatal Progressive Intrahepatic Cholestasis Pfic4 Progressive Familial Intrahepatic Cholestasis Type 4 Bile Acid Synthesis Defect, Congenital, Type 1 Cholestasis, Progressive Familial Intrahepatic 4
Congenital Bile Acid Synthesis Defect	3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Cba Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency Basd Bile Acid Synthesis Defect, Congenital, 1
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Intrahepatic Cholestasis	Cholestasis, Intrahepatic Neonatal Intrahepatic Cholestasis Cholestasis Intrahepatic Cholestasis Of Pregnancy
Bile Acid Synthesis Defect, Congenital, 2	Cholestasis With Delta(4)-3-Oxosteroid 5-Beta-Reductase Deficiency CBAS2 Congenital Bile Acid Synthesis Defect 2 Congenital Bile Acid Synthesis Defect Type 2 Congenital Bile Acid Synthesis Defect, Type 2 Basd2 Bile Acid Synthesis Defect, Congenital, Type 2
Bile Acid Synthesis Defect, Congenital, 3	Congenital Bile Acid Synthesis Defect 3 CBAS3 Oxysterol 7-Alpha-Hydroxylase Deficiency Congenital Bile Acid Synthesis Defect Type 3 Basd3 Bile Acid Synthesis Defect, Congenital, Type 3
Neonatal Jaundice	Neonatal Hyperbilirubinemia Neonatal Icterus Jaundice Neonatal Jaundice, Neonatal Hyperbilirubinemia, Neonatal
Cholestasis-Lymphedema Syndrome	Aagenaes Syndrome Chls Lcs Cholestasis-Edema Syndrome, Norwegian Type Lymphedema-Cholestasis Syndrome Cholestasis Lymphedema Syndrome Lcs1 Lymphedema Cholestasis Syndrome
Citrullinemia, Type Ii, Adult-Onset	Citrin Deficiency CTLN2 Citrullinemia Type Ii Adult-Onset Citrullinemia Type 2 Adult-Onset Type Ii Citrullinemia Citrullinemia, Adult-Onset Type Ii Adult-Onset Citrin Deficiency Adult-Onset Citrullinemia Type Ii Citrullinemia Type 2 Citrullinemia 2 Citrullinemia, Type Ii
Cholestasis, Benign Recurrent Intrahepatic, 1	Benign Recurrent Intrahepatic Cholestasis BRIC1 Summerskill Syndrome Bric Summerskill-Walshe-Tygstrup Syndrome Cholestasis, Benign Recurrent Intrahepatic Benign Recurrent Intrahepatic Cholestasis 1 Benign Recurrent Intrahepatic Cholestasis Type 1 Bric Type 1 Low Gamma-Gt Familial Intrahepatic Cholestasis Recurrent Familial Intrahepatic Cholestasis Cholestasis, Benign Recurrent Intrahepatic 1 Mild Atp8b1 Deficiency Recurrent Familial Intrahepatic Cholestasis 1 Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3 Bric - [Benign Recurrent Intrahepatic Cholestasis]
Cerebrotendinous Xanthomatosis	CTX Cerebral Cholesterinosis Cholestanol Storage Disease Xanthomatosis, Cerebrotendinous Sterol 27-Hydroxylase Deficiency Xanthomatosis Cerebrotendinous Cerebrotendinous Cholesterinosis Cholestanolosis Van Bogaert-Scherer-Epstein Disease
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Cholestasis, Progressive Familial Intrahepatic, 1	PFIC1 Byler Disease Cholestasis, Progressive Familial Intrahepatic 1 Progressive Familial Intrahepatic Cholestasis 1 Progressive Familial Intrahepatic Cholestasis Type 1 Fic1 Deficiency Byler'S Disease Cholestasis, Fatal Intrahepatic Progressive Familial Intrahepatic Cholestasis Severe Atp8b1 Deficiency Fatal Intrahepatic Cholestasis Cholestasis, Intrahepatic, Familial, Progressive, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3
Progressive Familial Intrahepatic Cholestasis	Abcb4-Related Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic Pfic Byler Disease Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Bsep Deficiency Byler Disease Byler Syndrome Fic1 Deficiency Low Γ-Gt Familial Intrahepatic Cholestasis Mdr3 Deficiency Pfic Cholestasis, Intrahepatic, Familial, Progressive Pfic - [Progressive Familial Intrahepatic Cholestasis]
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06403	HSD3B7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HSD3B7	VGNC	VGNC:29978
Canis familiaris	HSD3B7	VGNC	VGNC:41811
Rattus norvegicus	HSD3B7	RGD	RGD:628727
Mus musculus	HSD3B7	MGD	MGI:2141879
Felis catus	HSD3B7	VGNC	VGNC:62850
Macaca mulatta	HSD3B7	VGNC	VGNC:99513
Others	HSD3B7	NCBI