Human Gene AKR1C1 (ENST00000380872.9) from GENCODE V44
Description: Homo sapiens aldo-keto reductase family 1 member C1 (AKR1C1), mRNA. (from RefSeq NM_001353) RefSeq Summary (NM_001353): 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]. Gencode Transcript: ENST00000380872.9 Gencode Gene: ENSG00000187134.14 Transcript (Including UTRs) Position: hg38 chr10:4,963,415-4,983,283 Size: 19,869 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr10:4,963,445-4,977,742 Size: 14,298 Coding Exon Count: 9
ID:AK1C1_HUMAN DESCRIPTION: RecName: Full=Aldo-keto reductase family 1 member C1; EC=1.1.1.-; AltName: Full=20-alpha-hydroxysteroid dehydrogenase; Short=20-alpha-HSD; EC=1.1.1.149; AltName: Full=Chlordecone reductase homolog HAKRC; AltName: Full=Dihydrodiol dehydrogenase 1/2; Short=DD1/DD2; AltName: Full=High-affinity hepatic bile acid-binding protein; Short=HBAB; AltName: Full=Indanol dehydrogenase; EC=1.1.1.112; AltName: Full=Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; EC=1.3.1.20; FUNCTION: Converts progesterone to its inactive form, 20-alpha- dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation. CATALYTIC ACTIVITY: 17-alpha,20-alpha-dihydroxypregn-4-en-3-one + NAD(P)(+) = 17-alpha-hydroxyprogesterone + NAD(P)H. CATALYTIC ACTIVITY: Trans-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + NADPH. CATALYTIC ACTIVITY: Indan-1-ol + NAD(P)(+) = indanone + NAD(P)H. ENZYME REGULATION: Inhibited by hexestrol with an IC(50) of 9.5 uM, 1,10-phenanthroline with an IC(50) of 55 uM, 1,7- phenanthroline with an IC(50) of 72 uM, flufenamic acid with an IC(50) of 6.0 uM, indomethacin with an IC(50) of 140 uM, ibuprofen with an IC(50) of 950 uM, lithocholic acid with an IC(50) of 25 uM, ursodeoxycholic acid with an IC(50) of 340 uM and chenodeoxycholic acid with an IC(50) of 570 uM. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=5 uM for (s)-tetralol; KM=38 uM for (s)-indan-1-ol; KM=580 uM for benzene dihydrodiol; KM=3 uM for 5-beta-pregnane-3-alpha,20-alpha-diol; KM=3 uM for 5-beta-pregnan-20-alpha-ol-3-one; KM=12 uM for 4-pregnen-20-alpha-ol-3-one; KM=133 uM for 9-alpha,11-beta-PGF2; KM=2 uM for 5-beta-pregnan-3-alpha-ol-20-one; KM=1 uM for 5-beta-androstane-3,17-dione; KM=12 uM for PGD2; KM=0.6 uM for 20-alpha-hydroxyprogesterone (with NADH); SUBUNIT: Monomer. SUBCELLULAR LOCATION: Cytoplasm. 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. SIMILARITY: Belongs to the aldo/keto reductase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q04828
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0001523 retinoid metabolic process GO:0006805 xenobiotic metabolic process GO:0007586 digestion GO:0008206 bile acid metabolic process GO:0015721 bile acid and bile salt transport GO:0030299 intestinal cholesterol absorption GO:0030855 epithelial cell differentiation GO:0042448 progesterone metabolic process GO:0042574 retinal metabolic process GO:0042632 cholesterol homeostasis GO:0044597 daunorubicin metabolic process GO:0044598 doxorubicin metabolic process GO:0046683 response to organophosphorus GO:0051260 protein homooligomerization GO:0055114 oxidation-reduction process GO:0071395 cellular response to jasmonic acid stimulus
Protein Q04828 (Reactome details) participates in the following event(s):
R-HSA-2855252 AKRs reduce RBP2:atRAL to RBP2:atROL R-HSA-192036 5Beta-cholesten-7alpha, 12alpha-diol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha, 12alpha-triol R-HSA-192160 5beta-cholestan-7alpha-ol-3-one is reduced to 5beta-cholestan-3alpha, 7alpha-diol R-HSA-193758 5beta-cholestan-7alpha,24(S)-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,24(S)-triol R-HSA-193781 5Beta-cholestan-7alpha,12alpha,24(S)-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,24(S)-tetrol R-HSA-193800 5Beta-cholestan-7alpha,12alpha,27-triol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,12alpha,27-tetrol R-HSA-193841 5beta-cholestan-7alpha,27-diol-3-one is reduced to 5beta-cholestan-3alpha,7alpha,27-triol R-HSA-975634 Retinoid metabolism and transport R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-193775 Synthesis of bile acids and bile salts via 24-hydroxycholesterol R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol R-HSA-2187338 Visual phototransduction R-HSA-6806667 Metabolism of fat-soluble vitamins R-HSA-192105 Synthesis of bile acids and bile salts R-HSA-418594 G alpha (i) signalling events R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-194068 Bile acid and bile salt metabolism R-HSA-388396 GPCR downstream signalling R-HSA-1430728 Metabolism R-HSA-8957322 Metabolism of steroids R-HSA-372790 Signaling by GPCR R-HSA-556833 Metabolism of lipids R-HSA-162582 Signal Transduction
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Microarray Expression Data 
