Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3292
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 dehydrogen,
Gene location 17q21.2 (42551965: 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 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
OMIM 109684

SNPs

 rs605059

Strand: -   Allele origin: unknown  Allele change: C/G/T   Mutation type: snp

XP_006721920.1   p.Ala373=
XP_006721921.1   p.Ala372=
XP_006721922.1   p.Gly345Arg
XP_006721922.1   p.Gly345Ser
XP_011523031.1   p.Ala342=
XP_011523032.1   p.Ala341=
XP_011523033.1   p.Gly314Arg
XP_011523033.1   p.Gly314Ser
XP_005257347.1   p.Ala342=
XP_005257348.1   p.Ala34

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 IPR016040 IPR020904 IPR002347
Prosite:   PS00061

Pfam:  		 PF00106

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 accessionTerm nameEvidence codeGo category
GO:0003824 catalytic activity
 TAS molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase 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 proc
ess
 TAS biological_process
GO:0006703 estrogen biosynthetic pro
cess
 IEA biological_process
GO:0006703 estrogen biosynthetic pro
cess
 TAS biological_process
GO:0008210 estrogen metabolic proces
s
 TAS biological_process
GO:0031965 nuclear membrane
 IDA cellular_component
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
 IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0060348 bone development
 IEA biological_process
GO:0061370 testosterone biosynthetic
process
 IEA biological_process
GO:0071248 cellular response to meta
l ion
 IEA biological_process
GO:0003824 catalytic activity
 TAS molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IEA molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IEA molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase activity
 IEA molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase 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 proc
ess
 IEA biological_process
GO:0006694 steroid biosynthetic proc
ess
 TAS biological_process
GO:0006703 estrogen biosynthetic pro
cess
 IEA biological_process
GO:0006703 estrogen biosynthetic pro
cess
 IEA biological_process
GO:0006703 estrogen biosynthetic pro
cess
 IEA biological_process
GO:0006703 estrogen biosynthetic pro
cess
 TAS biological_process
GO:0008210 estrogen metabolic proces
s
 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 dehydrogenas
e (NAD+) activity
 IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0055114 oxidation-reduction proce
ss
 IEA biological_process
GO:0060348 bone development
 IEA biological_process
GO:0061370 testosterone biosynthetic
process
 IEA biological_process
GO:0071248 cellular response to meta
l ion
 IEA biological_process
GO:0003824 catalytic activity
 TAS molecular_function
GO:0004303 estradiol 17-beta-dehydro
genase 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 proc
ess
 TAS biological_process
GO:0006703 estrogen biosynthetic pro
cess
 TAS biological_process
GO:0008210 estrogen metabolic proces
s
 TAS biological_process
GO:0031965 nuclear membrane
 IDA cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis

Diseases

Associated diseases References
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Diabetes PMID: 16949391
Endometriosis PMID: 17454161
Female infertility PMID: 25936248
Male pseudohermaphroditism (MPH) PMID: 6310248
Endometriosis associated infertility INFBASE20586553
Female infertility INFBASE15640252
Endometriosis INFBASE9851796
Spermatogenetic defects PMID: 21429951

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17454161 Endometrio
sis
25 (16 samples
of ovarian endo
metriosis, 9 of
normal endomet
rium)
 Aromatase
17beta-HSD types 1
17beta-HSD types 7
sulfatase
Erbeta
Eralpha
 Show abstract
9851796 Endometrio
sis
26 (12 secretor
y eutopic endom
etrium, 10 secr
etory samples o
f endometriotic
lesions, 8 pai
red samples of
endometrium and
endometriosis)
 17betaHSD-2
 Show abstract
16260521 Endometrio
sis
 COMT (Val158Met G->A), HSD17 (vlV A->C), CYP17A2 (T->C), CYP1A1(MspI RFLP T->C), CYP1A1 (I462V A->G), CYP19 (R264C C->T), CYP19 (C1558T C->T), CYP1B1 (L432V), CYP1B1 (N453S), ERA (IVS1 -401>C)
822 (32 patient
s with endometr
iosis, 790 heal
thy controls)
Show abstract
20586553 Endometrio
sis, Endom
etriosis a
ssociated
infertilit
y
 ESR1 (rs2234693 - T/C single nucleotide polymorphism (SNP), dinucleotide (TA)(n) repeat) and ESR2 (dinucleotide (CA)(n) repeat),progesterone receptor gene PGR (rs10895068 - G/A SNP, 306-bp Alu-insertion), 17?-hydroxysteroid dehydrogenase type 1 gene HSD1
349 (150 endome
triosis, 199 co
ntrols)
 Female infertility ESR1
ESR2
PGR
CYP19A1 and HSD17B1
 Show abstract
25403437 Endometrio
sis
 A/G 85952 CYP2C19 (rs11592737), A/G 937 HSD17B1 (rs605059) Brazili
an
 1000 (500 with
endometriosis,
500 women witho
ut endometriosi
s)
 CYP2C19
HSD17B1
 Show abstract
15640252 Endometrio
sis
 Ser312Gly polymorphism in HSD17B1, Arg264Cys polymorphism in CYP19 Japanes
e
 138 (59 had no
endometriosis,
21 had stage I,
10 had stage I
I, 23 had stage
III, 25 had st
age IV)
 HSD17B1
CYP19
 Show abstract
24012197 Endometrio
sis
120 (41 disease
- free patients
, 79 patients w
ith endometrios
is)
Show abstract