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
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
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
bile acid biosynthetic process
B cell chemotaxis
GO Hierarchy
Human Protein Atlas
ENSG00000099377

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

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

KEGG BRITE Database
Orthology
K12408
Name
cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase [EC:1.1.1.181]
References
Disease
Disease Ontology
Displaying entries 21 - 30 of 32 in total
DO ID Disease Name Source
DOID:162 cancer
DOID:1852 intrahepatic cholestasis
DOID:2214 obsolete inherited blood coagulation disease
DOID:2739 Gilbert syndrome
DOID:2741 bilirubin metabolic disorder
DOID:3068 glioblastoma
DOID:3070 high grade glioma
DOID:3074 giant cell glioblastoma
DOID:409 liver disease
DOID:574 peripheral nervous system disease
The Human Phenotype Ontology
Displaying entries 21 - 29 of 29 in total
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
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 71 - 72 of 72 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
105823216 PROCO05577
103726335 NANGA16180

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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