HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1)

2007-02-01  

Identity

HGNC
HSD3B1
LOCATION
1p12
LOCUSID
3283
ALIAS
3BETAHSD,HSD3B,HSDB3,HSDB3A,SDR11E1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3283
MIM: 109715
HGNC: 5217
Ensembl: ENSG00000203857

Variants:

dbSNP: 3283
ClinVar: 3283
TCGA: ENSG00000203857
COSMIC: HSD3B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203857ENST00000369413P14060
ENSG00000203857ENST00000528909P14060
ENSG00000203857ENST00000531340E9PRN7

Expression (GTEx)

0
1
2
3
4
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estroneKEGGhsa_M00110
Steroid hormone biosynthesis, cholesterol => prognenolone => progesteroneKEGGhsa_M00107
C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estroneKEGGM00110
Steroid hormone biosynthesis, cholesterol => prognenolone => progesteroneKEGGM00107
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Glucocorticoid biosynthesisREACTOMER-HSA-194002
Mineralocorticoid biosynthesisREACTOMER-HSA-193993
Androgen biosynthesisREACTOMER-HSA-193048
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseClinicalAnnotationassociatedPD31932420
PA452347glucocorticoidsChemicalClinicalAnnotationassociatedPD31932420

References

Pubmed IDYearTitleCitations
239930972013A gain-of-function mutation in DHT synthesis in castration-resistant prostate cancer.115
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
200861732010Evidence of limited contributions for intratumoral steroidogenesis in prostate cancer.71
231225782013Placental steroidogenesis in pregnant women with polycystic ovary syndrome.44
195059202009Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.40
182816552008Inherited variation in the androgen pathway is associated with the efficacy of androgen-deprivation therapy in men with prostate cancer.39
182816552008Inherited variation in the androgen pathway is associated with the efficacy of androgen-deprivation therapy in men with prostate cancer.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
175076242007Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.37
150972322004Association of G-protein-coupled receptor kinase 4 haplotypes, but not HSD3B1 or PTP1B polymorphisms, with essential hypertension.35

Citation

Dessen P

HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43937/hsd3b1