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

Summary

Gene Symbol

HSD3B7

Aliases

C(27)-3BETA-HSD
SDR11E3
short chain dehydrogenase/reductase family 11E, member 3

Organism

Homo sapiens (human)

External Links

NCBI Gene

80270

HGNC

18324

KEGG Gene ID

hsa:80270

PubChem

80270

Alliance of Genome Resources

HGNC:18324

Annotation

Keyword

Alternative splicing
Disease variant
Endoplasmic reticulum
Intrahepatic cholestasis
Lipid metabolism
NAD
Oxidoreductase
Reference proteome
Steroidogenesis
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9H2F3	3 beta-hydroxysteroid dehydrogenase type VII 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 2** entries
GO Term	Evidence Code	PMID
bile acid biosynthetic process		11067870
B cell chemotaxis	ISS

GO Hierarchy

biological process

immune system process [inference]

leukocyte migration [inference]

leukocyte chemotaxis [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

mononuclear cell migration [inference]

lymphocyte migration [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process [inference]

bile acid biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process [inference]

bile acid biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cell motility [inference]

cell migration [inference]

leukocyte migration [inference]

leukocyte chemotaxis [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

mononuclear cell migration [inference]

lymphocyte migration [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

cell chemotaxis [inference]

leukocyte chemotaxis [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

locomotion [inference]

taxis [inference]

chemotaxis [inference]

cell chemotaxis [inference]

leukocyte chemotaxis [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

Displaying **all 2** entries
GO Term	Evidence Code	PMID
lipid droplet	IDA
endoplasmic reticulum membrane

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

lipid droplet

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

lipid droplet

Displaying **all 4** entries
GO Term	Evidence Code	PMID
cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	ISS
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
3-beta-hydroxy-delta5-steroid dehydrogenase activity	NAS	11067870
protein binding	IPI	25416956 32296183

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

steroid dehydrogenase activity [inference]

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

3-beta-hydroxy-delta5-steroid dehydrogenase activity

oxidoreductase activity, acting on CH-OH group of donors [inference]

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

3-beta-hydroxy-delta5-steroid dehydrogenase activity

cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000099377

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K12408

Name

cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase [EC:1.1.1.181]

References

11067870

Rhea

RHEA:11896

7α-hydroxycholesterol + NAD⁺

H⁺ + 7α-hydroxycholest-4-en-3-one + NADH

Enzyme

1.1.1.181

PMID

11067870

Disease

Disease Ontology

Displaying entries **1 - 10** of 32 in total

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DO ID	Disease Name	Source
DOID:0050534	congenital stationary night blindness	DisGeNET
DOID:0050674	congenital bile acid synthesis defect	DisGeNET
DOID:0060262	gallbladder disease	DisGeNET
DOID:0060891	Parkinson's disease 19A	DisGeNET
DOID:0060895	Parkinson's disease 4	DisGeNET
DOID:0060896	Parkinson's disease 23	DisGeNET
DOID:0070221	progressive familial intrahepatic cholestasis	DisGeNET
DOID:0070224	progressive familial intrahepatic cholestasis 4	DisGeNET
DOID:0070226	progressive familial intrahepatic cholestasis 1	DisGeNET
DOID:0110870	congenital stationary night blindness 1A	DisGeNET

The Human Phenotype Ontology

Displaying entries **21 - 29** of 29 in total

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HPO ID	HPO Term
HP:0002908	Conjugated hyperbilirubinemia
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003146	Hypocholesterolemia
HP:0003256	Abnormality of the coagulation cascade
HP:0003623	Neonatal onset
HP:0006566	Neonatal cholestatic liver disease
HP:0009830	Peripheral neuropathy
HP:0011985	Acholic stools
HP:0200084	Giant cell hepatitis

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:607765	congenital bile acid synthesis defect 1
ORPHA:79301	congenital bile acid synthesis defect 1

PubChem Disease

GHR Health Conditions

Congenital bile acid synthesis defect type 1

MedGen Diseases

Congenital bile acid synthesis defect 1

OMIM Phenotypes

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1

KEGG Diseases

Congenital bile acid synthesis defect

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001669
Gene Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Ortholog

Displaying entries **11 - 20** of 72 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Oryzias latipes	105356506		ORYLA16382
Oreochromis niloticus	100534450		ORENI55338
Sparus aurata	115575786		SPAAU02879
Xenopus laevis	431878	Xenbase:XB-GENE-17336808
Xenopus laevis	444015	Xenbase:XB-GENE-1008842
Xenopus tropicalis	448435	Xenbase:XB-GENE-957807
Xenopus tropicalis	100145626	Xenbase:XB-GENE-1008841
Pseudonaja textilis	113449970		PSETE23878
Ornithorhynchus anatinus	100086824		ORNAN16792
Erinaceus europaeus	103119743		ERIEU05191

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements