HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1)

2003-02-01 Affiliation

Identity

HGNC

HSD17B1

LOCATION

17q21.2

LOCUSID

3292

ALIAS

17-beta-HSD,20-alpha-HSD,E2DH,EDH17B2,EDHB17,HSD17,SDR28C1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108786	ENST00000225929	A0A0A0MQS7
ENSG00000108786	ENST00000585807	P14061
ENSG00000108786	ENST00000590299	B4DU11

Expression (GTEx)

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

Pathway	Source	External ID
Steroid hormone biosynthesis	KEGG	ko00140
Steroid hormone biosynthesis	KEGG	hsa00140
Metabolic pathways	KEGG	hsa01100
Ovarian steroidogenesis	KEGG	hsa04913
Ovarian steroidogenesis	KEGG	ko04913
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)	REACTOME	R-HSA-2453902
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Metabolism of steroid hormones	REACTOME	R-HSA-196071
Estrogen biosynthesis	REACTOME	R-HSA-193144

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20734064	2010	A large-scale candidate gene association study of age at menarche and age at natural menopause.	38
17110639	2007	Variants in estrogen biosynthesis genes, sex steroid hormone levels, and endometrial cancer: a HuGE review.	37
17507624	2007	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer.	37
19050176	2009	Enhanced cortisol production rates, free cortisol, and 11beta-HSD-1 expression correlate with visceral fat and insulin resistance in men: effect of weight loss.	36
18636124	2008	Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.	32
18676680	2008	Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.	32
16896040	2006	Associations among mammographic density, circulating sex hormones, and polymorphisms in sex hormone metabolism genes in postmenopausal women.	30
18086758	2007	Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.	30
20729390	2010	Serum estrogen and tumor-positive estrogen receptor-alpha are strong prognostic classifiers of non-small-cell lung cancer survival in both men and women.	30
19692168	2010	Genetic susceptibility to distinct bladder cancer subphenotypes.	25

Citation

Dessen P

HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40867/hsd17b1