• Gene id: 3292

Gene Summary

• Gene Symbol: HSD17B1   Gene   UCSC   Ensembl
• Aliases: 17-beta-HSD, 20-alpha-HSD, E2DH, EDH17B2, EDHB17, HSD17, SDR28C1
• Gene name: hydroxysteroid 17-beta dehydrogenase 1
• Alternate names: estradiol 17-beta-dehydrogenase 1, 17-beta-HSD 1, 17-beta-hydroxysteroid dehydrogenase type 1, 20 alpha-hydroxysteroid dehydrogenase, placental 17-beta-hydroxysteroid dehydrogenase, short chain dehydrogenase/reductase family 28C member 1, short chain dehy,
• Gene location: 17q21.2 (42552557: 42555213)     Exons: 6     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 109684

SNPs

rs605059

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

Protein Summary

• Protein general information: P14061  
  • Name: Estradiol 17 beta dehydrogenase 1 (EC 1.1.1.62) (17 beta hydroxysteroid dehydrogenase type 1) (17 beta HSD 1) (20 alpha hydroxysteroid dehydrogenase) (20 alpha HSD) (E2DH) (Placental 17 beta hydroxysteroid dehydrogenase) (Short chain dehydrogenase/reducta
  • Length: 328  
  • Mass: 34,950
• Sequence:

  MARTVVLITGCSSGIGLHLAVRLASDPSQSFKVYATLRDLKTQGRLWEAARALACPPGSLETLQLDVRDSKSVAA
  ARERVTEGRVDVLVCNAGLGLLGPLEALGEDAVASVLDVNVVGTVRMLQAFLPDMKRRGSGRVLVTGSVGGLMGL
  PFNDVYCASKFALEGLCESLAVLLLPFGVHLSLIECGPVHTAFMEKVLGSPEEVLDRTDIHTFHRFYQYLAHSKQ
  VFREAAQNPEEVAEVFLTALRAPKPTLRYFTTERFLPLLRMRLDDPSGSNYVTAMHREVFGDVPAKAEAGAEAGG
  GAGPGAEDEAGRGAVGDPELGDPPAAPQ

• Structural information:
  • Interpro: IPR011348  IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • PDB: 1A27 1BHS 1DHT 1EQU 1FDS 1FDT 1FDU 1FDV 1FDW 1I5R 1IOL 1JTV 1QYV 1QYW 1QYX 3DEY 3DHE 3HB4 3HB5 3KLM 3KLP 3KM0
  • PDBsum: 1A27 1BHS 1DHT 1EQU 1FDS 1FDT 1FDU 1FDV 1FDW 1I5R 1IOL 1JTV 1QYV 1QYW 1QYX 3DEY 3DHE 3HB4 3HB5 3KLM 3KLP 3KM0
  • STRING: ENSP00000466799
• Other Databases: GeneCards:  HSD17B1  Malacards:  HSD17B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003824	catalytic activity	TAS	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	TAS	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	IEA	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0008210	estrogen metabolic process	TAS	biological process
GO:0031965	nuclear membrane	IDA	cellular component
GO:0047035	testosterone dehydrogenase (NAD+) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0061370	testosterone biosynthetic process	IEA	biological process
GO:0071248	cellular response to metal ion	IEA	biological process
GO:0003824	catalytic activity	TAS	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	TAS	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	IEA	biological process
GO:0006703	estrogen biosynthetic process	IEA	biological process
GO:0006703	estrogen biosynthetic process	IEA	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0008210	estrogen metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0031965	nuclear membrane	IDA	cellular component
GO:0047035	testosterone dehydrogenase (NAD+) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0061370	testosterone biosynthetic process	IEA	biological process
GO:0071248	cellular response to metal ion	IEA	biological process
GO:0003824	catalytic activity	TAS	molecular function
GO:0004303	estradiol 17-beta-dehydrogenase activity	TAS	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0006703	estrogen biosynthetic process	TAS	biological process
GO:0008210	estrogen metabolic process	TAS	biological process
GO:0031965	nuclear membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Cancer (prostate)	GAD: 16311626
Cancer	GAD: 18415690
Cancer (bladder)	GAD: 19692168
Cancer (endometrial)	GAD: 17110639
Cancer (esophageal)	GAD: 20453000
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 18636124
Cancer (ovarian)	GAD: 18086758
Cancer (stomach)	GAD: 19015200
Cancer (testicular)	GAD: 19776291
Cancer (breast)	GAD: 12584742
Diabetes	GAD: 16949391
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Endometriosis	INFBASE: 25403437
Female infertility	INFBASE: 20586553
Sperm concentration	MIK: 21429951
Sperm motility	MIK: 21429951
Spermatogenesis defects	MIK: 21429951
Male factor infertility	MIK: 127543
Male pseudohermaphroditism	MIK: 2998649
46,XY disorders of sex development	MIK: 21214500
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male pseudohermaphroditism	MIK: 127543
Sperm concentration	MIK: 21429951
Sperm motility	MIK: 21429951
Spermatogenesis defects	MIK: 21429951
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21429951	Spermatogenesis defects	rs1801132 and rs2228480 of the ER-? gene, rs1256049 and rs4986938 of the ER-? gene, rs605059 of the HSD17B1 gene, rs1799941 of the SHBG gene and rs1048943 and rs4646903 of the CYP1A1 gene		677 (10 fertile men, 467 infertile men)	Male infertility	ER-?  ER-? CYP19A1 HSD17B1 CYP1A1 CYP1B1 COMT GSTM1 GSTT1 SHBG
6310248	Male pseudohermaphroditism		Arab po pulatio n in Is rael	25 male pseudohermaphroditism	Male infertility, female infertility
127543	Male pseudohermaphroditism			1 male pseudohermaphrodite	Male infertility	LH FSH 17 beta hydroxysteroid dehydrogenase
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq