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AKR1C1 Gene

protein-coding   GIFtS: 67
GCID: GC10P004934

Aldo-Keto Reductase Family 1, Member C1

(Previous names: aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase...)
(Previous symbol: DDH1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aldo-Keto Reductase Family 1, Member C11 2     20-ALPHA-HSD2
DDH11 2 3 5     C92
Dihydrodiol Dehydrogenase 1; 20-Alpha (3-Alpha)-Hydroxysteroid
Dehydrogenase1 2
     H-372
Chlordecone Reductase Homolog HAKRC2 3     MBAB2
Dihydrodiol Dehydrogenase 1/22 3     Aldo-Keto Reductase C2
High-Affinity Hepatic Bile Acid-Binding Protein2 3     Aldo-Keto Reductase Family 1 Member C12
Indanol Dehydrogenase2 3     Dihydrodiol Dehydrogenase 12
Trans-1,2-Dihydrobenzene-1,2-Diol Dehydrogenase2 3     Dihydrodiol Dehydrogenase Isoform DD12
20-Alpha-Hydroxysteroid Dehydrogenase2 3     Hepatic Dihydrodiol Dehydrogenase2
DD1/DD22 3     Type II 3-Alpha-Hydroxysteroid Dehydrogenase2
DDH2 3     20-alpha-HSD3
HBAB2 3     EC 1.1.1.-3
DD12 5     EC 1.1.1.1123
HAKRC2 5     EC 1.1.1.1493
Aldo-Keto Reductase Family 1, Member C1 (Dihydrodiol Dehydrogenase 1;
20-Alpha (3-Alpha)-Hydroxysteroid Dehydrogenase)1
     EC 1.3.1.203
2-ALPHA-HSD2     EC 1.1.18
20 Alpha-Hydroxysteroid Dehydrogenase2     

External Ids:    HGNC: 3841   Entrez Gene: 16452   Ensembl: ENSG000001871347   OMIM: 6004495   UniProtKB: Q048283   

Export aliases for AKR1C1 gene to outside databases

Previous GC identifers: GC10P005053 GC10P004959 GC10P004995 GC10M004965


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AKR1C1 Gene:
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)

GeneCards Summary for AKR1C1 Gene:
AKR1C1 (aldo-keto reductase family 1, member C1) is a protein-coding gene. Diseases associated with AKR1C1 include legg-calve-perthes disease, and ovarian endometriosis. GO annotations related to this gene include alditol:NADP+ 1-oxidoreductase activity and aldo-keto reductase (NADP) activity. An important paralog of this gene is AKR1C2.

UniProtKB/Swiss-Prot: AK1C1_HUMAN, Q04828
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

Gene Wiki entry for AKR1C1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AKR1C1 gene promoter:
         p53   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKR1C1 promoter sequence
   Search Chromatin IP Primers for AKR1C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKR1C1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p15-p14   Ensembl cytogenetic band:  10p15.1   HGNC cytogenetic band: 10p15-p14

AKR1C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR1C1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P004934:  view genomic region     (about GC identifiers)

Start:
4,934,796 bp from pter      End:
5,025,475 bp from pter
Size:
90,680 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AK1C1_HUMAN, Q04828 (See protein sequence)
Recommended Name: Aldo-keto reductase family 1 member C1  
Size: 323 amino acids; 36788 Da
Subunit: Monomer
4 PDB 3D structures from and Proteopedia for AKR1C1:
1MRQ (3D)        3C3U (3D)        3GUG (3D)        3NTY (3D)    
Secondary accessions: P52896 Q5SR15 Q7M4N2 Q9UCX2

Explore the universe of human proteins at neXtProt for AKR1C1: NX_Q04828

Explore proteomics data for AKR1C1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for AKR1C1 (Q04828)
     EKCKDAGL  KSIGVSNFN 


    See AKR1C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001344.2  
    ENSEMBL proteins: 
     ENSP00000370254   ENSP00000416415   ENSP00000370240   ENSP00000412248  
    Reactome Protein details: Q04828

    AKR1C1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    AKR: Aldo-keto reductases

    4 InterPro protein domains:
     IPR001395 Aldo/ket_red
     IPR018170 Aldo/ket_reductase_CS
     IPR020471 Aldo/keto_reductase_subgr
     IPR023210 NADP_OxRdtase_dom

    Graphical View of Domain Structure for InterPro Entry Q04828

    ProtoNet protein and cluster: Q04828

    1 Blocks protein domain: IPB001395 Aldo/keto reductase

    UniProtKB/Swiss-Prot: AK1C1_HUMAN, Q04828
    Similarity: Belongs to the aldo/keto reductase family


    AKR1C1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AK1C1_HUMAN, Q04828
    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);

         Genatlas biochemistry entry for AKR1C1:
    aldo-keto reductase family 1,expressed only in kidney,liver,testis,cytosolic,member C1 (20-alpha
    (3-alpha)-hydroxysteroid dehydrogenase),with high affinity binding for bile acids,also catalyzing detoxification
    of polycyclic aromatic hydrocarbons

         Enzyme Numbers (IUBMB): EC 1.3.1.201 EC 1.1.12 EC 1.1.1.1121 EC 1.1.1.1491 EC 1.1.1.-1

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004032alditol:NADP+ 1-oxidoreductase activity IDA--
    GO:0004033aldo-keto reductase (NADP) activity TAS7789999
    GO:0016491oxidoreductase activity ----
    GO:0016655oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA19442656
    GO:0018636phenanthrene 9,10-monooxygenase activity IDA--
         
    AKR1C1 for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AK1C1_HUMAN, Q04828: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    AKR1C1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AKR1C1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.00
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.00
    Bile acid and bile salt metabolism0.73
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    3Biological oxidations
    metapathway biotransformation0.42
    Benzo(a)pyrene metabolism0.00
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Chemical carcinogenesis
    Metabolism of xenobiotics by cytochrome P4500.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for AKR1C1
        Alternative Complement Pathway
    Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for AKR1C1
        Naphthalene metabolism

    2 BioSystems Pathways for AKR1C1
        Benzo(a)pyrene metabolism
    metapathway biotransformation

    4 Reactome Pathways for AKR1C1
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Retinoid metabolism and transport
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol


    2 Kegg Pathways  (Kegg details for AKR1C1):
        Steroid hormone biosynthesis
    Metabolism of xenobiotics by cytochrome P450


    AKR1C1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKR1C1
    Interactions:

        GeneGlobe Interaction Network for AKR1C1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for AKR1C1 (Q048282, 3 ENSP000003702544) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COMMD8Q9NX082, 3, ENSP000003709844MINT-8252615 I2D: score=2 STRING: ENSP00000370984
    MAPK3P273613, ENSP000002630254I2D: score=2 STRING: ENSP00000263025
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP1A2ENSP000003420074STRING: ENSP00000342007
    CYP2B6ENSP000003246484STRING: ENSP00000324648
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006805xenobiotic metabolic process NAS8486699
    GO:0007586digestion IDA8486699
    GO:0007603phototransduction, visible light TAS--
    GO:0008206bile acid metabolic process IDA8486699

    AKR1C1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AKR1C1 (AK1C1)

    Selected HMDB Compounds for AKR1C1 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    17-alpha,20-alpha-Dihydroxypregn-4-en-3-one17alpha,20alpha-Dihydroxypregn-4-en-3-one (see all 6)652-69-7--
    20a-Dihydroprogesterone(20S)-20-Hydroxypregn-4-en-3-one (see all 26)145-14-2--
    Androstanedione5a-Androsta-3,17-dione (see all 11)846-46-8--
    Androsterone(3R,5S,8R,9S,10S,13S,14S)-3-hydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,14,15,16-tetradecahydrocyclopenta[a]phenanthren-17-one (see all 28)53-41-8--
    Chenodeoxycholic acid(+)-chenodeoxycholate (see all 13)474-25-9--
    Ibuprofenalpha-(4-Isobutylphenyl)propionate (see all 9)15687-27-1--
    Lithocholic acid(3a,5b)-3-hydroxy-cholan-24-oate (see all 5)434-13-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--

    7 DrugBank Compounds for AKR1C1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--3463506 17139284 17016423 11060293 2615366
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423 10592235
    (10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE-- --target--10592235
    2-HYDROXY-3,5-DIIODOBENZOIC ACID-- --target--18045204
    4-[(1R,2S)-1-ethyl-2-(4-hydroxyphenyl)butyl]phenol-- --target--10592235
    Acetylsalicylic acid2-Acetoxybenzenecarboxylic acid (see all 24)50-78-2targetinhibitor18045204
    Salicyclic acid2-Carboxyphenol (see all 10)69-72-7targetinhibitor18045204

    Selected Novoseek inferred chemical compound relationships for AKR1C1 gene (see all 41)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    1-acenaphthenol 94 3 10510318 (1), 19007763 (1)
    dihydroprogesterone 93.3 12 18984031 (2), 8446108 (1), 16720716 (1), 14967952 (1) (see all 10)
    3alpha-hydroxysteroid 92 8 7766669 (1), 18574251 (1), 19397269 (1), 8486699 (1) (see all 8)
    5alpha-androstane-3alpha,17beta-diol 87.8 3 15494612 (1), 13678667 (1)
    hydroxysteroid 76.4 5 16455123 (2), 19007763 (1), 17170221 (1)
    chlordecone 75.9 4 10510318 (1), 8446108 (1), 8486699 (1)
    3alpha-hydroxy-5alpha-pregnan-20-one 72 1 11995921 (1)
    dihydrotestosterone 71.8 8 17283174 (3), 15494612 (1), 19320734 (1)
    ethacrynic acid 71 10 7476889 (3), 7515059 (2), 7488239 (1), 11060293 (1)
    5alpha-dihydroprogesterone 70.4 3 11995921 (2)



    AKR1C1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AKR1C1 gene: 
    NM_001353.5  

    Unigene Cluster for AKR1C1:

    Aldo-keto reductase family 1, member C1
    Hs.460260  [show with all ESTs]
    Unigene Representative Sequence: AK226067
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477661(uc009xhx.2) ENST00000380872(uc001ihq.3) ENST00000442997
    ENST00000380859 ENST00000476100 ENST00000434459(uc001iho.3)

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    Additional mRNA sequence: 

    AB021654.1 AB031083.1 AB031084.1 AK226067.1 AK303435.1 AK310658.1 BC015490.2 BC020216.1 
    BC040210.1 BT006653.1 BT007197.1 D26124.1 M86609.1 S68290.1 U05684.1 

    Selected DOTS entries (see all 31):

    DT.91810606  DT.97855879  DT.92462965  DT.100889726  DT.92027039  DT.97776113  DT.92462917  DT.100889725 
    DT.437774  DT.100889730  DT.100889732  DT.121225152  DT.75180336  DT.121225243  DT.121225288  DT.121225228 
    DT.121225394  DT.91906283  DT.92462948  DT.95268563  DT.100031708  DT.100031712  DT.91835807  DT.95268586 

    Selected AceView cDNA sequences (see all 413):

    D26124 CB113447 CA422788 CB108526 BX283531 CB157592 CB108578 BM799067 
    AB040822 CB119580 CB108236 CA310606 CB118258 CA314572 BM987467 AI203621 
    AF263242 BM976106 CR611068 CR598545 CB108084 BU630856 BU685864 BM981653 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AKR1C1 expression in normal human tissues (normalized intensities)      AKR1C1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGTCTGCCA
    AKR1C1 Expression
    About this image


    AKR1C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Umbilical vein endothelial cells Umbilical Veins
             Umbilical Arteries
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Umbilical vein endothelial cells Umbilical Veins
             Pulmonary Capillary Plexus
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Thymus (Hematopoietic System)
             Thymus
     
     Lung (Respiratory System)
             Pulmonary Capillary Plexus
    AKR1C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKR1C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460260

    UniProtKB/Swiss-Prot: AK1C1_HUMAN, Q04828
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AKR1C1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akr1c65
    Akr1c211
    aldo-keto reductase family 1, member C65
    aldo-keto reductase family 1, member C211
    77.71(n)1
    73.37(a)1
      13 (2.48 cM)5
    773371  NM_029901.21  NP_084177.21 
     44343065 
    African clawed frog
    (Xenopus laevis)
    Amphibia BC053793.12   -- 74.56(n)    BC053793.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G599601 AT1G59960 50.36(n)
    43.8(a)
      842290  NM_104688.3  NP_176204.1 


    ENSEMBL Gene Tree for AKR1C1 (if available)
    TreeFam Gene Tree for AKR1C1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AKR1C1 gene
    AKR1C21 2  AKR1CL12  AKR1C32  AKR1B102  AKR1A12  AKR1C42  AKR1E22  AKR1B152  
    AKR1B12  AKR1D12  
    11 SIMAP similar genes for AKR1C1 using alignment to 3 protein entries:     AK1C1_HUMAN (see all proteins):
    AKR1C3    AKR1C4    AKR1C2    AKR1D1    AKR1CL1    AKR1B1
    AKR1B10    AKR1B15    AKR1A1    AKR1E2    LOC402299

    AKR1C1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AKR1C1
    PGOHUM00000238333


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AKR1C1 (see all 377)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1908693761,2
    C--5003500(+) ACTTTC/TTTTGC 1 -- us2k10--------
    rs1113441201,2
    C,F--5003512(+) CCAATG/TTTTTC 1 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs1120755821,2
    C,F--5003536(+) TCTATA/GTTACT 1 -- us2k12Minor allele frequency- G:0.03CSA WA 120
    rs1437721981,2
    --5003550(+) GTATCA/GTGATT 1 -- us2k10--------
    rs727699701,2
    C,F--5003639(+) TAAATG/ACTTCT 1 -- us2k14Minor allele frequency- A:0.20NA EA 244
    rs1468530031,2
    --5003723(+) GATTTC/TTTGTT 1 -- us2k10--------
    rs1150360571,2
    F--5003738(+) TGTATG/ACCTTG 1 -- us2k11Minor allele frequency- A:0.07WA 118
    rs560210731,2
    C--5004248(+) CACCT-/AACGTG 1 -- us2k10--------
    rs2003913551,2
    C--5005103(+) AAAAA-/AGTAAT 1 -- us2k10--------
    rs11385661,2
    C,F--5005651(+) AAATAT/CCAGTG 2 /Y syn16Minor allele frequency- C:0.06NA WA EU 5997

    HapMap Linkage Disequilibrium report for AKR1C1 (4934796 - 5025475 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for AKR1C1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv894794CNV Loss21882294
    dgv123n67CNV Loss20364138
    nsv825221CNV Loss20364138
    nsv894783CNV Loss21882294
    nsv894792CNV Gain21882294
    dgv122n67CNV Gain20364138
    esv1580698OTHER Inversion17803354
    esv9055OTHER Inversion19470904
    dgv2e19OTHER Inversion19470904
    nsv7197OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600449    OMIM disorders: --

    Selected diseases for AKR1C1 (see all 26):    About MalaCards
    legg-calve-perthes disease    ovarian endometriosis    hepatitis    non-hodgkin lymphoma
    endometriosis    hodgkin's lymphoma    polycystic ovary syndrome    intrahepatic cholangiocarcinoma
    esophageal squamous cell carcinoma    cholangiocarcinoma    lung cancer    cervical cancer
    prostate cancer    cervicitis    esophagitis    squamous cell carcinoma
    prostatitis    breast cancer    obesity    retinitis


    AKR1C1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for AKR1C1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nsclc 42.2 25 11289154 (6), 16876904 (5), 17266043 (3), 11956619 (3) (see all 5)
    ovarian carcinoma 41.8 5 17009030 (2), 15790446 (1), 20338228 (1), 15138708 (1)
    endometrial cancer 32.7 4 16338060 (4), 19007763 (1), 18045204 (1)
    colon carcinoma 32.4 4 9973208 (1), 8573067 (1)
    lung tumor 26.2 3 17163506 (2), 16876904 (1)
    breast cancer 19.7 4 19638449 (1), 19846565 (1), 18045204 (1)
    prostate cancer 12.9 2 17283174 (1), 17878531 (1)
    cancer 11.2 8 12579257 (1), 17094902 (1), 16876904 (1), 18214064 (1) (see all 8)
    cancer lung 8.8 4 17163506 (3), 17266043 (1)
    smoking habit 5 2 15197778 (1), 11956619 (1)

    Genetic Association Database (GAD): AKR1C1
    Human Genome Epidemiology (HuGE) Navigator: AKR1C1 (9 documents)

    Export disorders for AKR1C1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AKR1C1 gene, integrated from 10 sources (see all 152):
    (articles sorted by number of sources associating them with AKR1C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Relationship of human liver dihydrodiol dehydrogenases to hepatic bile-acid-binding protein and an oxidoreductase of human colon cells. (PubMed id 8573067)1, 2, 9 Hara A....Ishida N. (Biochem. J. 1996)
    2. Characterization of a human 20alpha-hydroxysteroid dehydrogenase. (PubMed id 11013348)1, 2, 9 Zhang Y.... Luu-The V. (J. Mol. Endocrinol. 2000)
    3. Close kinship of human 20alpha-hydroxysteroid dehydrogenase gene with three aldo-keto reductase genes. (PubMed id 10672042)1, 2, 9 Nishizawa M.... Ito S. (Genes Cells 2000)
    4. Genomic organization and chromosomal localization of a novel human hepatic dihydrodiol dehydrogenase with high affinity bile acid binding. (PubMed id 8132567)1, 2, 9 Lou H.... Stolz A. (J. Biol. Chem. 1994)
    5. cDNA cloning and expression of the human hepatic bile acid-binding protein. A member of the monomeric reductase gene family. (PubMed id 8486699)1, 2, 9 Stolz A.... Shively J.E. (J. Biol. Chem. 1993)
    6. Genetic variation in the progesterone receptor and metabolism pathways and hormone therapy in relation to breast cancer risk. (PubMed id 19846565)1, 4, 9 Reding K.W....Malone K.E. (Am. J. Epidemiol. 2009)
    7. Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma. (PubMed id 16543247)1, 4, 9 Wang S.S....Rothman N. (Carcinogenesis 2006)
    8. Regulation of human dihydrodiol dehydrogenase by Michael acceptor xenobiotics. (PubMed id 7515059)1, 2, 9 Ciaccio P.J.... Tew K.D. (J. Biol. Chem. 1994)
    9. Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma. (PubMed id 17149600)1, 4, 9 Lan Q....Chanock S. (Hum. Genet. 2007)
    10. Human 20alpha-hydroxysteroid dehydrogenase: crystallographic and site-directed mutagenesis studies lead to the identification of an alternative binding site for C21-steroids. (PubMed id 12899831)1, 2, 9 Couture J.-F....Breton R. (J. Mol. Biol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1645 HGNC: 384 AceView: AKR1C1andAKR1CL2 Ensembl:ENSG00000187134 euGenes: HUgn1645
    ECgene: AKR1C1 Kegg: 1645 H-InvDB: AKR1C1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for AKR1C1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for AKR1C1 gene:
    Search GeneIP for patents involving AKR1C1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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