Human Gene AKR1C1 (ENST00000380872.9_5) from GENCODE V47lift37
  Description: aldo-keto reductase family 1 member C1 (from RefSeq NM_001353.6)
Gencode Transcript: ENST00000380872.9_5
Gencode Gene: ENSG00000187134.14_11
Transcript (Including UTRs)
   Position: hg19 chr10:5,005,607-5,025,475 Size: 19,869 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr10:5,005,637-5,019,934 Size: 14,298 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:5,005,607-5,025,475)mRNA (may differ from genome)Protein (323 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AKR1C1
Diseases sorted by gene-association score: developmental dysplasia of the hip 1* (50), lung cancer (2), ischemic bone disease (2), peroneal nerve paralysis (1), cloacal exstrophy (1), bone inflammation disease (1), epileptic encephalopathy, early infantile, 9 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.02 RPKM in Liver
Total median expression: 260.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.5030-0.217 Picture PostScript Text
3' UTR -1552.945541-0.280 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001395 - Aldo/ket_red
IPR018170 - Aldo/ket_reductase_CS
IPR020471 - Aldo/keto_reductase_subgr
IPR023210 - NADP_OxRdtase_dom

Pfam Domains:
PF00248 - Aldo/keto reductase family

SCOP Domains:
51430 - NAD(P)-linked oxidoreductase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1MRQ - X-ray MuPIT 3C3U - X-ray MuPIT 3GUG - X-ray MuPIT 3NTY - X-ray MuPIT


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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004032 alditol:NADP+ 1-oxidoreductase activity
GO:0004033 aldo-keto reductase (NADP) activity
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor
GO:0018636 phenanthrene 9,10-monooxygenase activity
GO:0031406 carboxylic acid binding
GO:0032052 bile acid binding
GO:0047006 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity
GO:0047042 androsterone dehydrogenase (B-specific) activity
GO:0047086 ketosteroid monooxygenase activity
GO:0047115 trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity
GO:0047718 indanol dehydrogenase activity

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

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC040210 - Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase), mRNA (cDNA clone MGC:42600 IMAGE:4825338), complete cds.
DQ269985 - Homo sapiens type II 3a-hydroxysteroid dehydrogenase variant mRNA, complete cds.
S68290 - chlordecone reductase homolog {clone HAKRc} [human, liver, mRNA, 1158 nt].
AK310658 - Homo sapiens cDNA, FLJ17700.
AK303435 - Homo sapiens cDNA FLJ60052 complete cds, highly similar to Aldo-keto reductase family 1 member C1 (EC1.1.1.-).
BC020216 - Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase), mRNA (cDNA clone MGC:31890 IMAGE:4662654), complete cds.
JD080762 - Sequence 61786 from Patent EP1572962.
BC015490 - Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase), mRNA (cDNA clone MGC:8954 IMAGE:3877178), complete cds.
M86609 - Homo sapiens dihydrodiol dehydrogenase mRNA, complete cds.
U05684 - Homo sapiens dihydrodiol dehydrogenase mRNA, complete cds.
DQ891484 - Synthetic construct clone IMAGE:100004114; FLH177373.01X; RZPDo839G12124D aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1) gene, encodes complete protein.
DQ893923 - Synthetic construct Homo sapiens clone IMAGE:100008383; FLH165723.01L; RZPDo839F12159D aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1) gene, encodes complete protein.
CU677313 - Synthetic construct Homo sapiens gateway clone IMAGE:100018922 5' read AKR1C1 mRNA.
KJ896694 - Synthetic construct Homo sapiens clone ccsbBroadEn_06088 AKR1C1 gene, encodes complete protein.
BT007197 - Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) mRNA, complete cds.
AB031083 - Homo sapiens mRNA for 20 alpha-hydroxysteroid dehydrogenase, complete cds.
D26124 - Homo sapiens mRNA for dihydrodiol dehydrogenase isoform DD1, partial cds.
JD020502 - Sequence 1526 from Patent EP1572962.
JD028497 - Sequence 9521 from Patent EP1572962.
AK226067 - Homo sapiens mRNA for aldo-keto reductase family 1, member C1 variant, clone: fk04082.
JD248500 - Sequence 229524 from Patent EP1572962.
AK095239 - Homo sapiens cDNA FLJ37920 fis, clone CTONG1000181.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6032 - cardenolide biosynthesis
PWY-7455 - allopregnanolone biosynthesis

Reactome (by CSHL, EBI, and GO)

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

-  Other Names for This Gene
  Alternate Gene Symbols: AK1C1_HUMAN, DDH, DDH1, ENST00000380872.1, ENST00000380872.2, ENST00000380872.3, ENST00000380872.4, ENST00000380872.5, ENST00000380872.6, ENST00000380872.7, ENST00000380872.8, NM_001353, P52896, Q04828, Q5SR15, Q7M4N2, Q9UCX2, uc318pxb.1, uc318pxb.2
UCSC ID: ENST00000380872.9_5
RefSeq Accession: NM_001353.6
Protein: Q04828 (aka AK1C1_HUMAN or AKC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.