Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 8644
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol AKR1C3   Gene   UCSC   Ensembl
Aliases DD3, DDX, HA1753, HAKRB, HAKRe, HSD17B5, PGFS, hluPGFS
Gene name aldo-keto reductase family 1 member C3
Alternate names aldo-keto reductase family 1 member C3, 3-alpha hydroxysteroid dehydrogenase, type II, 3-alpha-HSD type II, brain, chlordecone reductase homolog HAKRb, dihydrodiol dehydrogenase 3, dihydrodiol dehydrogenase X, indanol dehydrogenase, prostaglandin F synthase, test,
Gene location 10p15.1 (5048765: 5107685)     Exons: 10     NC_000010.11
Gene summary(Entrez) This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
OMIM 603966

Protein Summary

Protein general information P42330  

Name: Aldo keto reductase family 1 member C3 (EC 1. . . ) (17 beta hydroxysteroid dehydrogenase type 5) (17 beta HSD 5) (3 alpha HSD type II, brain) (3 alpha hydroxysteroid dehydrogenase type 2) (3 alpha HSD type 2) (EC 1.1.1.357) (Chlordecone reductase homolog

Length: 323  Mass: 36,853

Tissue specificity: Expressed in many tissues including adrenal gland, brain, kidney, liver, lung, mammary gland, placenta, small intestine, colon, spleen, prostate and testis. The dominant HSD in prostate and mammary gland. In the prostate, higher levels

Sequence MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVK
REDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDLYLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEA
MEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLLDFCKSKDIVLVAYSALGSQRDK
RWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTAEDMKAIDGLD
RNLHYFNSDSFASHPNYPYSDEY
Structural information
Interpro:  IPR018170 IPR020471 IPR023210
Prosite:   PS00798 PS00062 PS00063

Pfam:  
PF00248
CDD:   cd06660

PDB:  
1RY0 1RY8 1S1P 1S1R 1S2A 1S2C 1XF0 1ZQ5 2F38 2FGB 3R43 3R58 3R6I 3R7M 3R8G 3R8H 3R94 3UFY 3UG8 3UGR 3UWE 4DBS 4DBU 4DBW 4DZ5 4FA3 4FAL 4FAM 4H7C 4HMN 4WDT 4WDU 4WDW 4WDX 4WRH 4XVD 4XVE 4YVV 4YVX 4ZFC 5HNT 5HNU
PDBsum:   1RY0 1RY8 1S1P 1S1R 1S2A 1S2C 1XF0 1ZQ5 2F38 2FGB 3R43 3R58 3R6I 3R7M 3R8G 3R8H 3R94 3UFY 3UG8 3UGR 3UWE 4DBS 4DBU 4DBW 4DZ5 4FA3 4FAL 4FAM 4H7C 4HMN 4WDT 4WDU 4WDW 4WDX 4WRH 4XVD 4XVE 4YVV 4YVX 4ZFC 5HNT 5HNU
MINT:   1379107
STRING:   ENSP00000369927;
Other Databases GeneCards:  AKR1C3;  Malacards:  AKR1C3

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000060 protein import into nucle
us, translocation
IDA biological_process
GO:0001523 retinoid metabolic proces
s
TAS biological_process
GO:0001758 retinal dehydrogenase act
ivity
IDA molecular_function
GO:0004032 alditol:NADP+ 1-oxidoredu
ctase activity
IDA molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
TAS molecular_function
GO:0004745 retinol dehydrogenase act
ivity
IDA molecular_function
GO:0005622 intracellular
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006693 prostaglandin metabolic p
rocess
IEP biological_process
GO:0006693 prostaglandin metabolic p
rocess
TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IDA biological_process
GO:0007584 response to nutrient
IEP biological_process
GO:0008202 steroid metabolic process
IEP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008584 male gonad development
IEP biological_process
GO:0009267 cellular response to star
vation
IEP biological_process
GO:0010942 positive regulation of ce
ll death
IDA biological_process
GO:0016488 farnesol catabolic proces
s
IDA biological_process
GO:0016655 oxidoreductase activity,
acting on NAD(P)H, quinon
e or similar compound as
acceptor
IDA molecular_function
GO:0016655 oxidoreductase activity,
acting on NAD(P)H, quinon
e or similar compound as
acceptor
IDA molecular_function
GO:0018636 phenanthrene 9,10-monooxy
genase activity
IDA molecular_function
GO:0019371 cyclooxygenase pathway
TAS biological_process
GO:0030216 keratinocyte differentiat
ion
IEP biological_process
GO:0034614 cellular response to reac
tive oxygen species
IDA biological_process
GO:0035410 dihydrotestosterone 17-be
ta-dehydrogenase activity
IDA molecular_function
GO:0036130 prostaglandin H2 endopero
xidase reductase activity
TAS molecular_function
GO:0036131 prostaglandin D2 11-ketor
eductase activity
TAS molecular_function
GO:0042448 progesterone metabolic pr
ocess
IDA biological_process
GO:0042572 retinol metabolic process
IEA biological_process
GO:0042574 retinal metabolic process
IDA biological_process
GO:0044259 multicellular organismal
macromolecule metabolic p
rocess
IEP biological_process
GO:0044597 daunorubicin metabolic pr
ocess
IMP biological_process
GO:0044598 doxorubicin metabolic pro
cess
IMP biological_process
GO:0045550 geranylgeranyl reductase
activity
IDA molecular_function
GO:0045703 ketoreductase activity
IDA molecular_function
GO:0047017 prostaglandin-F synthase
activity
IEA molecular_function
GO:0047020 15-hydroxyprostaglandin-D
dehydrogenase (NADP+) ac
tivity
IDA molecular_function
GO:0047023 androsterone dehydrogenas
e activity
IDA molecular_function
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
IEA molecular_function
GO:0047045 testosterone 17-beta-dehy
drogenase (NADP+) activit
y
IEA molecular_function
GO:0047086 ketosteroid monooxygenase
activity
IDA molecular_function
GO:0047115 trans-1,2-dihydrobenzene-
1,2-diol dehydrogenase ac
tivity
IEA molecular_function
GO:0047718 indanol dehydrogenase act
ivity
IEA molecular_function
GO:0047787 delta4-3-oxosteroid 5beta
-reductase activity
IDA molecular_function
GO:0048385 regulation of retinoic ac
id receptor signaling pat
hway
IDA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process
GO:0052650 NADP-retinol dehydrogenas
e activity
TAS molecular_function
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
TAS biological_process
GO:0061370 testosterone biosynthetic
process
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070293 renal absorption
NAS biological_process
GO:0071276 cellular response to cadm
ium ion
IDA biological_process
GO:0071277 cellular response to calc
ium ion
IDA biological_process
GO:0071379 cellular response to pros
taglandin stimulus
IDA biological_process
GO:0071384 cellular response to cort
icosteroid stimulus
IDA biological_process
GO:0071395 cellular response to jasm
onic acid stimulus
IDA biological_process
GO:0071799 cellular response to pros
taglandin D stimulus
IDA biological_process
GO:1900053 negative regulation of re
tinoic acid biosynthetic
process
IDA biological_process
GO:2000224 regulation of testosteron
e biosynthetic process
IMP biological_process
GO:2000353 positive regulation of en
dothelial cell apoptotic
process
IDA biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IDA biological_process
GO:0000060 protein import into nucle
us, translocation
IDA biological_process
GO:0001523 retinoid metabolic proces
s
TAS biological_process
GO:0001758 retinal dehydrogenase act
ivity
IDA molecular_function
GO:0004032 alditol:NADP+ 1-oxidoredu
ctase activity
IDA molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
TAS molecular_function
GO:0004745 retinol dehydrogenase act
ivity
IDA molecular_function
GO:0005622 intracellular
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006693 prostaglandin metabolic p
rocess
IEP biological_process
GO:0006693 prostaglandin metabolic p
rocess
TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IDA biological_process
GO:0007584 response to nutrient
IEP biological_process
GO:0008202 steroid metabolic process
IEP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008584 male gonad development
IEP biological_process
GO:0009267 cellular response to star
vation
IEP biological_process
GO:0010942 positive regulation of ce
ll death
IDA biological_process
GO:0016488 farnesol catabolic proces
s
IDA biological_process
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0016655 oxidoreductase activity,
acting on NAD(P)H, quinon
e or similar compound as
acceptor
IDA molecular_function
GO:0016655 oxidoreductase activity,
acting on NAD(P)H, quinon
e or similar compound as
acceptor
IDA molecular_function
GO:0018636 phenanthrene 9,10-monooxy
genase activity
IDA molecular_function
GO:0019371 cyclooxygenase pathway
TAS biological_process
GO:0030216 keratinocyte differentiat
ion
IEP biological_process
GO:0034614 cellular response to reac
tive oxygen species
IDA biological_process
GO:0035410 dihydrotestosterone 17-be
ta-dehydrogenase activity
IDA molecular_function
GO:0036130 prostaglandin H2 endopero
xidase reductase activity
TAS molecular_function
GO:0036131 prostaglandin D2 11-ketor
eductase activity
IEA molecular_function
GO:0036131 prostaglandin D2 11-ketor
eductase activity
TAS molecular_function
GO:0042448 progesterone metabolic pr
ocess
IDA biological_process
GO:0042572 retinol metabolic process
IEA biological_process
GO:0042574 retinal metabolic process
IDA biological_process
GO:0044259 multicellular organismal
macromolecule metabolic p
rocess
IEP biological_process
GO:0044597 daunorubicin metabolic pr
ocess
IMP biological_process
GO:0044598 doxorubicin metabolic pro
cess
IMP biological_process
GO:0045550 geranylgeranyl reductase
activity
IDA molecular_function
GO:0045703 ketoreductase activity
IDA molecular_function
GO:0047017 prostaglandin-F synthase
activity
IEA molecular_function
GO:0047020 15-hydroxyprostaglandin-D
dehydrogenase (NADP+) ac
tivity
IDA molecular_function
GO:0047023 androsterone dehydrogenas
e activity
IDA molecular_function
GO:0047035 testosterone dehydrogenas
e (NAD+) activity
IEA molecular_function
GO:0047045 testosterone 17-beta-dehy
drogenase (NADP+) activit
y
IEA molecular_function
GO:0047086 ketosteroid monooxygenase
activity
IDA molecular_function
GO:0047115 trans-1,2-dihydrobenzene-
1,2-diol dehydrogenase ac
tivity
IEA molecular_function
GO:0047718 indanol dehydrogenase act
ivity
IEA molecular_function
GO:0047787 delta4-3-oxosteroid 5beta
-reductase activity
IDA molecular_function
GO:0048385 regulation of retinoic ac
id receptor signaling pat
hway
IDA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process
GO:0052650 NADP-retinol dehydrogenas
e activity
TAS molecular_function
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
TAS biological_process
GO:0061370 testosterone biosynthetic
process
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070293 renal absorption
NAS biological_process
GO:0071276 cellular response to cadm
ium ion
IDA biological_process
GO:0071277 cellular response to calc
ium ion
IDA biological_process
GO:0071379 cellular response to pros
taglandin stimulus
IDA biological_process
GO:0071384 cellular response to cort
icosteroid stimulus
IDA biological_process
GO:0071395 cellular response to jasm
onic acid stimulus
IDA biological_process
GO:0071799 cellular response to pros
taglandin D stimulus
IDA biological_process
GO:1900053 negative regulation of re
tinoic acid biosynthetic
process
IDA biological_process
GO:2000224 regulation of testosteron
e biosynthetic process
IMP biological_process
GO:2000353 positive regulation of en
dothelial cell apoptotic
process
IDA biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IDA biological_process
GO:0000060 protein import into nucle
us, translocation
IDA biological_process
GO:0001523 retinoid metabolic proces
s
TAS biological_process
GO:0001758 retinal dehydrogenase act
ivity
IDA molecular_function
GO:0004032 alditol:NADP+ 1-oxidoredu
ctase activity
IDA molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
TAS molecular_function
GO:0004033 aldo-keto reductase (NADP
) activity
TAS molecular_function
GO:0004745 retinol dehydrogenase act
ivity
IDA molecular_function
GO:0005622 intracellular
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006693 prostaglandin metabolic p
rocess
IEP biological_process
GO:0006693 prostaglandin metabolic p
rocess
TAS biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IDA biological_process
GO:0007584 response to nutrient
IEP biological_process
GO:0008202 steroid metabolic process
IEP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IDA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008584 male gonad development
IEP biological_process
GO:0009267 cellular response to star
vation
IEP biological_process
GO:0010942 positive regulation of ce
ll death
IDA biological_process
GO:0016488 farnesol catabolic proces
s
IDA biological_process
GO:0016655 oxidoreductase activity,
acting on NAD(P)H, quinon
e or similar compound as
acceptor
IDA molecular_function
GO:0016655 oxidoreductase activity,
acting on NAD(P)H, quinon
e or similar compound as
acceptor
IDA molecular_function
GO:0018636 phenanthrene 9,10-monooxy
genase activity
IDA molecular_function
GO:0019371 cyclooxygenase pathway
TAS biological_process
GO:0030216 keratinocyte differentiat
ion
IEP biological_process
GO:0034614 cellular response to reac
tive oxygen species
IDA biological_process
GO:0035410 dihydrotestosterone 17-be
ta-dehydrogenase activity
IDA molecular_function
GO:0036130 prostaglandin H2 endopero
xidase reductase activity
TAS molecular_function
GO:0036131 prostaglandin D2 11-ketor
eductase activity
TAS molecular_function
GO:0042448 progesterone metabolic pr
ocess
IDA biological_process
GO:0042574 retinal metabolic process
IDA biological_process
GO:0044259 multicellular organismal
macromolecule metabolic p
rocess
IEP biological_process
GO:0044597 daunorubicin metabolic pr
ocess
IMP biological_process
GO:0044598 doxorubicin metabolic pro
cess
IMP biological_process
GO:0045550 geranylgeranyl reductase
activity
IDA molecular_function
GO:0045703 ketoreductase activity
IDA molecular_function
GO:0047020 15-hydroxyprostaglandin-D
dehydrogenase (NADP+) ac
tivity
IDA molecular_function
GO:0047023 androsterone dehydrogenas
e activity
IDA molecular_function
GO:0047086 ketosteroid monooxygenase
activity
IDA molecular_function
GO:0047787 delta4-3-oxosteroid 5beta
-reductase activity
IDA molecular_function
GO:0048385 regulation of retinoic ac
id receptor signaling pat
hway
IDA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process
GO:0052650 NADP-retinol dehydrogenas
e activity
TAS molecular_function
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
IDA biological_process
GO:0055114 oxidation-reduction proce
ss
TAS biological_process
GO:0061370 testosterone biosynthetic
process
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070293 renal absorption
NAS biological_process
GO:0071276 cellular response to cadm
ium ion
IDA biological_process
GO:0071277 cellular response to calc
ium ion
IDA biological_process
GO:0071379 cellular response to pros
taglandin stimulus
IDA biological_process
GO:0071384 cellular response to cort
icosteroid stimulus
IDA biological_process
GO:0071395 cellular response to jasm
onic acid stimulus
IDA biological_process
GO:0071799 cellular response to pros
taglandin D stimulus
IDA biological_process
GO:1900053 negative regulation of re
tinoic acid biosynthetic
process
IDA biological_process
GO:2000224 regulation of testosteron
e biosynthetic process
IMP biological_process
GO:2000353 positive regulation of en
dothelial cell apoptotic
process
IDA biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IDA biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis
hsa00590  Arachidonic acid metabolism

Diseases

Associated diseases References
Cancer PMID: 19574343
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Endometriosis PMID: 25446850
Hyperandrogenism PMID: 18692800
Hyperandrogenism PMID: 18692800
Male infertility PMID: 9758445
Male pseudohermaphroditism (MPH) PMID: 9758445
Ovarian endometriosis PMID: 21232532
Ovarian endometriosis PMID: 21232532
Polycystic ovary syndrome (PCOS) PMID: 16263811
Endometriosis INFBASE24035605
Ovarian endometriosis INFBASE21232532

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25446850 Endometrio
sis


Female infertility PGF2A
AKR1B1
AKR1C3
PLA2G2A
PTGS2/COX-2
ABCC4 and PTGFR
PLA2G4A and HPGD
Show abstract
21232532 Endometrio
sis (ovari
an)


PR-AB
HSD17B2
SRD5A2
AKR1C1
AKR1C2
AKR1C3
AKR1D1
Show abstract
24035605 Endometrio
sis

74 (45 women wi
th endometriosi
s, 29 normal co
ntrols)
Female infertility Cox-2
mPGES-1
mPGES-2
cPGES
and AKR-1C3
Show abstract