HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1)

Gene

• Entrez ID: 3292
• Gene name: Hydroxysteroid 17-beta dehydrogenase 1
• Gene symbol: HSD17B1
• Synonyms: 17-beta-HSD, 20-alpha-HSD, E2DH, EDH17B2, EDHB17, HSD17, SDR28C1
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentra

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053179	hsa-miR-210-3p	Luciferase reporter assay, qRT-PCR	22203747
MIRT053180	hsa-miR-518c-3p	Luciferase reporter assay, qRT-PCR	22203747
MIRT2245031	hsa-miR-1208	CLIP-seq
MIRT2245032	hsa-miR-149	CLIP-seq
MIRT2245033	hsa-miR-3064-5p	CLIP-seq
MIRT2245034	hsa-miR-3194-3p	CLIP-seq
MIRT2245035	hsa-miR-3652	CLIP-seq
MIRT2245036	hsa-miR-4430	CLIP-seq
MIRT2245037	hsa-miR-4505	CLIP-seq
MIRT2245038	hsa-miR-4794	CLIP-seq
MIRT2245039	hsa-miR-892a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA3	Repression	9231796
SP1	Activation	9231796
TFAP2A	Repression	9231796
TFAP2A	Unknown	10419022

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	TAS	8547176
GO:0004303	Function	Estradiol 17-beta-dehydrogenase activity	IDA	4396689, 8994190, 9525918, 10625652
GO:0005496	Function	Steroid binding	IDA	4396689
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	TAS	8547176
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006694	Process	Steroid biosynthetic process	TAS	8547176
GO:0006703	Process	Estrogen biosynthetic process	IDA	8994190
GO:0006703	Process	Estrogen biosynthetic process	IEA
GO:0006703	Process	Estrogen biosynthetic process	ISS
GO:0006703	Process	Estrogen biosynthetic process	TAS
GO:0008210	Process	Estrogen metabolic process	TAS	2584224
GO:0030283	Function	Testosterone dehydrogenase [NAD(P)] activity	ISS
GO:0035410	Function	Dihydrotestosterone 17-beta-dehydrogenase activity	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	8994190
GO:0050661	Function	NADP binding	IDA	8805577
GO:0061370	Process	Testosterone biosynthetic process	ISS
GO:0070401	Function	NADP+ binding	IMP	9525918
GO:0072582	Function	17-beta-hydroxysteroid dehydrogenase (NADP+) activity	ISS
GO:1903924	Function	Estradiol binding	IDA	10625652

Other IDs

• MIM: 109684
• HGNC: 5210
• e!Ensembl: ENSG00000108786

Protein

• UniProt ID: P14061
• Protein name: 17-beta-hydroxysteroid dehydrogenase type 1 (17-beta-HSD 1) (EC 1.1.1.51) (20 alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (E2DH) (Estradiol 17-beta-dehydrogenase 1) (EC 1.1.1.62) (Placental 17-beta-hydroxysteroid dehydrogenase) (Short chain dehydro
• Protein function: Favors the reduction of estrogens and androgens. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:8994190). Also has 20-alpha-HSD activity. Uses preferentially NADH.
• PDB: 1A27, 1BHS, 1DHT, 1EQU, 1FDS, 1FDT, 1FDU, 1FDV, 1FDW, 1I5R, 1IOL, 1JTV, 1QYV, 1QYW, 1QYX, 3DEY, 3DHE, 3HB4, 3HB5, 3KLM, 3KLP, 3KM0, 6CGC, 6CGE, 6DTP, 6MNC, 6MNE, 7X3Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	4 → 201	short chain dehydrogenase	Domain

• Sequence:

  MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQGRLWEAARALACPPGSL
  ETLQLDVRDSKSVAAARERVTEGRVDVLVCNAGLGLLGPLEALGEDAVASVLDVNVVGTV
  RMLQAFLPDMKRRGSGRVLVTGSVGGLMGLPFNDVYCASKFALEGLCESLAVLLLPFGVH
  LSLIECGPVHTAFMEKVLGSPEEVLDRTDIHTFHRFYQYLAHSKQVFREAAQNPEEVAEV
  FLTALRAPKPTLRYFTTERFLPLLRMRLDDPSGSNYVTAMHREVFGDVPAKAEAGAEAGG
  GAGPGAEDEAGRGAVGDPELGDPPAAPQ

• Sequence length: 328

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis

Reactome:

Estrogen biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17507624

Unknown
Disease name	Disease term	dbSNP ID	References
Endometrioma	Endometrioma		18815356
Endometriosis	Endometriosis	rs1800629, rs1143634	18815356
Miscarriage	Miscarriage		18539642
Prostatic neoplasms	Prostatic Neoplasms		17507624