Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1645
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol AKR1C1   Gene   UCSC   Ensembl
Aliases 2-ALPHA-HSD, 20-ALPHA-HSD, C9, DD1, DD1/DD2, DDH, DDH1, H-37, HAKRC, HBAB, MBAB
Gene name aldo-keto reductase family 1 member C1
Alternate names aldo-keto reductase family 1 member C1, 20 alpha-hydroxysteroid dehydrogenase, aldo-keto reductase C, chlordecone reductase homolog HAKRC, dihydrodiol dehydrogenase 1, dihydrodiol dehydrogenase 1/2, dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid,
Gene location 10p15.1 (4963261: 4979966)     Exons: 9     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 reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
OMIM 600449

Protein Summary
Protein general information Q04828  

Name: Aldo keto reductase family 1 member C1 (EC 1.1.1. ) (20 alpha hydroxysteroid dehydrogenase) (20 alpha HSD) (EC 1.1.1.149) (Chlordecone reductase homolog HAKRC) (Dihydrodiol dehydrogenase 1/2) (DD1/DD2) (High affinity hepatic bile acid binding protein) (HB

Length: 323  Mass: 36,788

Tissue specificity: Expressed in all tissues tested including liver, prostate, testis, adrenal gland, brain, uterus, mammary gland and keratinocytes. Highest levels found in liver, mammary gland and brain. {ECO

Sequence MDSKYQCVKLNDGHFMPVLGFGTYAPAEVPKSKALEATKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVK
REDIFYTSKLWCNSHRPELVRPALERSLKNLQLDYVDLYLIHFPVSVKPGEEVIPKDENGKILFDTVDLCATWEA
VEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNQRKLLDFCKSKDIVLVAYSALGSHREE
PWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTSEEMKAIDGLN
RNVRYLTLDIFAGPPNYPFSDEY
Structural information
Interpro:  IPR018170 IPR020471 IPR023210
Prosite:   PS00798 PS00062 PS00063

Pfam:  		 PF00248
CDD:   cd06660

PDB:  		 1MRQ 3C3U 3GUG 3NTY 4YVP
PDBsum:   1MRQ 3C3U 3GUG 3NTY 4YVP
MINT:   5001209
STRING:   ENSP00000370254;
Other Databases GeneCards:  AKR1C1;  Malacards:  AKR1C1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001523 retinoid metabolic proces
s
 TAS biological_process
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:0005515 protein binding
 IPI molecular_function
GO:0005829 cytosol
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006805 xenobiotic metabolic proc
ess
 NAS biological_process
GO:0007586 digestion
 IDA biological_process
GO:0008206 bile acid metabolic proce
ss
 IDA biological_process
GO:0015721 bile acid and bile salt t
ransport
 TAS 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:0030299 intestinal cholesterol ab
sorption
 TAS biological_process
GO:0030855 epithelial cell different
iation
 IDA biological_process
GO:0031406 carboxylic acid binding
 IDA molecular_function
GO:0032052 bile acid binding
 IDA molecular_function
GO:0042448 progesterone metabolic pr
ocess
 IDA biological_process
GO:0042574 retinal metabolic process
 IDA biological_process
GO:0042632 cholesterol homeostasis
 TAS biological_process
GO:0044597 daunorubicin metabolic pr
ocess
 IMP biological_process
GO:0044598 doxorubicin metabolic pro
cess
 IMP biological_process
GO:0046683 response to organophospho
rus
 IEP biological_process
GO:0047006 17-alpha,20-alpha-dihydro
xypregn-4-en-3-one dehydr
ogenase activity
 IEA molecular_function
GO:0047042 androsterone dehydrogenas
e (B-specific) activity
 IDA molecular_function
GO:0047086 ketosteroid monooxygenase
activity
 IDA molecular_function
GO:0047115 trans-1,2-dihydrobenzene-
1,2-diol dehydrogenase ac
tivity
 IDA molecular_function
GO:0047718 indanol dehydrogenase act
ivity
 IEA molecular_function
GO:0051260 protein homooligomerizati
on
 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
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0071395 cellular response to jasm
onic acid stimulus
 IDA biological_process
GO:0001523 retinoid metabolic proces
s
 TAS biological_process
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:0005515 protein binding
 IPI molecular_function
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005829 cytosol
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006805 xenobiotic metabolic proc
ess
 NAS biological_process
GO:0007586 digestion
 IDA biological_process
GO:0008206 bile acid metabolic proce
ss
 IDA biological_process
GO:0015721 bile acid and bile salt t
ransport
 TAS 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:0030299 intestinal cholesterol ab
sorption
 TAS biological_process
GO:0030855 epithelial cell different
iation
 IDA biological_process
GO:0031406 carboxylic acid binding
 IDA molecular_function
GO:0032052 bile acid binding
 IDA molecular_function
GO:0042448 progesterone metabolic pr
ocess
 IDA biological_process
GO:0042574 retinal metabolic process
 IDA biological_process
GO:0042632 cholesterol homeostasis
 TAS biological_process
GO:0044597 daunorubicin metabolic pr
ocess
 IMP biological_process
GO:0044598 doxorubicin metabolic pro
cess
 IMP biological_process
GO:0046683 response to organophospho
rus
 IEP biological_process
GO:0047006 17-alpha,20-alpha-dihydro
xypregn-4-en-3-one dehydr
ogenase activity
 IEA molecular_function
GO:0047042 androsterone dehydrogenas
e (B-specific) activity
 IDA 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:0047115 trans-1,2-dihydrobenzene-
1,2-diol dehydrogenase ac
tivity
 IDA molecular_function
GO:0047718 indanol dehydrogenase act
ivity
 IEA molecular_function
GO:0051260 protein homooligomerizati
on
 IDA biological_process
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:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0071395 cellular response to jasm
onic acid stimulus
 IDA biological_process
GO:0001523 retinoid metabolic proces
s
 TAS biological_process
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:0005515 protein binding
 IPI molecular_function
GO:0005829 cytosol
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006805 xenobiotic metabolic proc
ess
 NAS biological_process
GO:0007586 digestion
 IDA biological_process
GO:0008206 bile acid metabolic proce
ss
 IDA biological_process
GO:0015721 bile acid and bile salt t
ransport
 TAS 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:0030299 intestinal cholesterol ab
sorption
 TAS biological_process
GO:0030855 epithelial cell different
iation
 IDA biological_process
GO:0031406 carboxylic acid binding
 IDA molecular_function
GO:0032052 bile acid binding
 IDA molecular_function
GO:0042448 progesterone metabolic pr
ocess
 IDA biological_process
GO:0042574 retinal metabolic process
 IDA biological_process
GO:0042632 cholesterol homeostasis
 TAS biological_process
GO:0044597 daunorubicin metabolic pr
ocess
 IMP biological_process
GO:0044598 doxorubicin metabolic pro
cess
 IMP biological_process
GO:0046683 response to organophospho
rus
 IEP biological_process
GO:0047042 androsterone dehydrogenas
e (B-specific) activity
 IDA molecular_function
GO:0047086 ketosteroid monooxygenase
activity
 IDA molecular_function
GO:0047115 trans-1,2-dihydrobenzene-
1,2-diol dehydrogenase ac
tivity
 IDA molecular_function
GO:0051260 protein homooligomerizati
on
 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
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0071395 cellular response to jasm
onic acid stimulus
 IDA biological_process

KEGG pathways

hsa00140  Steroid hormone biosynthesis
hsa00980  Metabolism of xenobiotics by cytochrome P450

Diseases

Associated diseases References
Endometriosis (ovarian) PMID: 21232532
Alzheimer's disease PMID: 16385451
Cancer PMID: 19423521
Endometrial cancer PMID: 16338060
Hyperandrogenism PMID: 27471004
Ovarian endometriosis PMID: 21232532
Ovarian endometriosis PMID: 21232532
Polycystic ovary syndrome (PCOS) PMID: 21262361
Ovarian endometriosis INFBASE21232532

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21232532 Endometrio
sis (ovari
an)

PR-AB
HSD17B2
SRD5A2
AKR1C1
AKR1C2
AKR1C3
AKR1D1
 Show abstract