HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1)

2003-02-01  

Identity

HGNC
HSD17B1
LOCATION
17q21.2
LOCUSID
3292
ALIAS
17-beta-HSD,20-alpha-HSD,E2DH,EDH17B2,EDHB17,HSD17,SDR28C1

Other Information

Locus ID:

NCBI: 3292
MIM: 109684
HGNC: 5210
Ensembl: ENSG00000108786

Variants:

dbSNP: 3292
ClinVar: 3292
TCGA: ENSG00000108786
COSMIC: HSD17B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108786ENST00000225929A0A0A0MQS7
ENSG00000108786ENST00000585807P14061
ENSG00000108786ENST00000590299B4DU11

Expression (GTEx)

0
1
2
3
4
5
6
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
Ovarian steroidogenesisKEGGhsa04913
Ovarian steroidogenesisKEGGko04913
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Estrogen biosynthesisREACTOMER-HSA-193144

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

References

Pubmed IDYearTitleCitations
366348282023New insights into the substrate inhibition of human 17β-hydroxysteroid dehydrogenase type 1.0
366348282023New insights into the substrate inhibition of human 17β-hydroxysteroid dehydrogenase type 1.0
355632062022Overexpression of Human Estrogen Biosynthetic Enzyme Hydroxysteroid (17beta) Dehydrogenase Type 1 Induces Adenomyosis-like Phenotype in Transgenic Mice.2
355632062022Overexpression of Human Estrogen Biosynthetic Enzyme Hydroxysteroid (17beta) Dehydrogenase Type 1 Induces Adenomyosis-like Phenotype in Transgenic Mice.2
347649402021Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20α/20βHSD Activity.5
347649402021Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20α/20βHSD Activity.5
319892682020G protein coupled oestrogen receptor 1, aromatase, 17β-HSD and cAMP level in mutational falsetto.0
321611972020Hydroxysteroid 17-β dehydrogenase 13 variant increases phospholipids and protects against fibrosis in nonalcoholic fatty liver disease.37
322365822020Altered expression of 17‑β‑hydroxysteroid dehydrogenase type 2 and its prognostic significance in non‑small cell lung cancer.3
319892682020G protein coupled oestrogen receptor 1, aromatase, 17β-HSD and cAMP level in mutational falsetto.0
321611972020Hydroxysteroid 17-β dehydrogenase 13 variant increases phospholipids and protects against fibrosis in nonalcoholic fatty liver disease.37
322365822020Altered expression of 17‑β‑hydroxysteroid dehydrogenase type 2 and its prognostic significance in non‑small cell lung cancer.3
307688512019Crystal structures of human 17β-hydroxysteroid dehydrogenase type 1 complexed with estrone and NADP(+) reveal the mechanism of substrate inhibition.5
307688512019Crystal structures of human 17β-hydroxysteroid dehydrogenase type 1 complexed with estrone and NADP(+) reveal the mechanism of substrate inhibition.5
299411722018Estrogen-related receptor γ regulates expression of 17β-hydroxysteroid dehydrogenase type 1 in fetal growth restriction.8

Citation

Dessen P

HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40867