HSD3B7

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PubMed	articles
NCBI	proteins

cholest-5-ene-3β,7α-diol 3β-dehydrogenase
cholest-5-ene-3β,7α-diol 3β-dehydrogenase
Identifiers
EC no.	1.1.1.181
CAS no.	56626-16-5
Databases
BRENDA	enzyme data
ExPASy	NiceZyme view
KEGG	enzyme entry
MetaCyc	metabolic pathway
Rhea	reactions
PDB structures	RCSB PDB PDBe PDBsum
Gene Ontology	AmiGO / QuickGO
PMC
Search
PMC	articles
PubMed	articles
NCBI	proteins

HSD3B7
Identifiers
Aliases	HSD3B7, CBAS1, PFIC4, SDR11E3, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
External IDs	OMIM: 607764; MGI: 2141879; GeneCards: HSD3B7
Enzyme activity
Gene location (Human)
Chr.	Chromosome 16 (human)
End	30,989,147 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	127,402,974 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; left adrenal gland; ; left adrenal cortex; ; right adrenal gland; ; apex of heart; ; right adrenal cortex; ; mucosa of transverse colon; ; body of pancreas; ; subcutaneous adipose tissue; ; human kidney;
	Top expressed in
	hepatobiliary system; ; liver; ; white adipose tissue; ; mandibular molars; ; zygote; ; secondary oocyte; ; zone of skin; ; pancreas; ; urinary bladder; ; esophagus;
	More reference expression data
	n/a
Gene ontology
Molecular function	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; oxidoreductase activity; protein binding; 3-beta-hydroxy-delta5-steroid dehydrogenase activity; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; endoplasmic reticulum; membrane; cellular component; lipid droplet;
Biological process	bile acid biosynthetic process; steroid biosynthetic process; B cell chemotaxis; cholesterol catabolic process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	80270
	101502
	ENSG00000099377
	ENSMUSG00000042289
	Q9H2F3
	Q9EQC1
	NM_001142777; NM_001142778; NM_025193
	NM_001040684; NM_133943
	NP_001136249; NP_001136250; NP_079469
	NP_001035774; NP_598704
	Wikidata
View/Edit Human	View/Edit Mouse

3 beta-hydroxysteroid dehydrogenase type 7 (or 3β-HSD7) is an enzyme that in humans is encoded by the HSD3B7 gene. Also called cholest-5-ene-3β,7α-diol 3β-dehydrogenase (EC 1.1.1.181), this enzyme catalyzes several chemical reactions of steroids, and is particularly important for bile acid synthesis which is needed for proper lipid digestion.

The primary reaction is to convert 7α-hydroxycholesterol to 7α-hydroxycholest-4-en-3-one:

7α-hydroxycholesterol

+ NAD⁺

H⁺

Reversible left-right reaction arrow with minor forward product(s) to top right and minor reverse substrate(s) from bottom right

H⁺

7α-hydroxycholest-4-en-3-one

+ NADH

The two substrates are 7α-hydroxycholesterol and oxidised nicotinamide adenine dinucleotide (NAD⁺). The products are 7α-hydroxycholest-4-en-3-one, reduced NADH, and a proton.

The systematic name of this enzyme class is cholest-5-ene-3β,7α-diol:NAD⁺ 3-oxidoreductase. This enzyme is also called 3β-hydroxy-Δ5-C27-steroid oxidoreductase.

Function

This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-OH group of donor with NAD⁺ or NADP⁺ as acceptor. This enzyme is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. This enzyme is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydroxylated sterol substrates.

Clinical significance

Mutations in the HSD3B7 gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000099377 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042289 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Wikvall K (April 1981). "Purification and properties of a 3 β-hydroxy-delta 5-C27-steroid oxidoreductase from rabbit liver microsomes". J. Biol. Chem. 256 (7): 3376–80. doi:10.1016/S0021-9258(19)69618-3. PMID 6937465.
↑ Lefebvre P, Cariou B, Lien F, Kuipers F, Staels B (2009). "Role of bile acids and bile acid receptors in metabolic regulation". Physiological reviews. doi:10.1152/physrev.00010.2008.
1 2 Enzyme 1.1.1.181 at KEGG Pathway Database.
↑ Schwarz M, Wright AC, Davis DL, Nazer H, Björkhem I, Russell DW (November 2000). "The bile acid synthetic gene 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis". J. Clin. Invest. 106 (9): 1175–84. doi:10.1172/JCI10902. PMC 301421. PMID 11067870.
↑ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (March 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem. Biol. Interact. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
1 2 "Entrez Gene: HSD3B7".

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This EC 1.1.1 enzyme-related article is a stub. You can help Wikipedia by adding missing information.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000099377 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042289 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid6937465-5] Wikvall K (April 1981). "Purification and properties of a 3 β-hydroxy-delta 5-C27-steroid oxidoreductase from rabbit liver microsomes". J. Biol. Chem. 256 (7): 3376–80. doi:10.1016/S0021-9258(19)69618-3. PMID 6937465.

[6] Lefebvre P, Cariou B, Lien F, Kuipers F, Staels B (2009). "Role of bile acids and bile acid receptors in metabolic regulation". Physiological reviews. doi:10.1152/physrev.00010.2008.

[KEGG-7] 1 2 Enzyme 1.1.1.181 at KEGG Pathway Database.

[pmid11067870-8] Schwarz M, Wright AC, Davis DL, Nazer H, Björkhem I, Russell DW (November 2000). "The bile acid synthetic gene 3β-hydroxy-Δ(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis". J. Clin. Invest. 106 (9): 1175–84. doi:10.1172/JCI10902. PMC 301421. PMID 11067870.

[pmid19027726-9] Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jörnvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (March 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem. Biol. Interact. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.

[entrez-10] 1 2 "Entrez Gene: HSD3B7".

v t e Oxidoreductases: alcohol oxidoreductases (EC 1.1)
1.1.1: NAD/NADP acceptor	3-hydroxyacyl-CoA dehydrogenase 3-hydroxybutyryl-CoA dehydrogenase 6-Phosphogluconate dehydrogenase Alcohol dehydrogenase Aldo-keto reductase 1A1 1B1 1B10 1C1 1C3 1C4 7A2 Aldose reductase Beta-Ketoacyl ACP reductase Carbohydrate dehydrogenases Carnitine dehydrogenase D-malate dehydrogenase (decarboxylating) DXP reductoisomerase Glucose-6-phosphate dehydrogenase Glycerol-3-phosphate dehydrogenase HMG-CoA reductase IMP dehydrogenase Isocitrate dehydrogenase Lactate dehydrogenase L-threonine dehydrogenase L-xylulose reductase Malate dehydrogenase Malate dehydrogenase (decarboxylating) Malate dehydrogenase (NADP+) Malate dehydrogenase (oxaloacetate-decarboxylating) Malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) Sorbitol dehydrogenase Hydroxysteroid dehydrogenase: 3β 3β-HSD NSDHL 11β 11β-HSD1 11β-HSD2 17β
1.1.2: cytochrome acceptor	D-lactate dehydrogenase (cytochrome) D-lactate dehydrogenase (cytochrome c-553) Mannitol dehydrogenase (cytochrome)
1.1.3: oxygen acceptor	Alcohol oxidase Glucose oxidase L-gulonolactone oxidase L-lactate oxidase Xanthine oxidase
1.1.4: disulfide as acceptor	Vitamin K epoxide reductase Vitamin-K-epoxide reductase (warfarin-insensitive)
1.1.5: quinone/similar acceptor	Malate dehydrogenase (quinone) Quinoprotein glucose dehydrogenase
1.1.99: other acceptors	Choline dehydrogenase L2HGDH

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

HSD3B7

Function

Clinical significance

See also

References