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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AKR1C1 Gene

protein-coding   GIFtS: 68
GCID: GC10P004995

Aldo-Keto Reductase Family 1, Member C1

(Previous names: aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase...)
(Previous symbol: DDH1)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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 GC10M004965


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Benzo(a)pyrene metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKR1C1 gene promoter:
         p53   MRF-2   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC10P004995:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q04828

  • 2 DME Specific Peptides for AKR1C1 (Q04828)
     EKCKDAGL  KSIGVSNFN 

    AKR1C1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKR1C1 Protein Expression
    REFSEQ proteins: NP_001344.2  
    ENSEMBL proteins: 
     ENSP00000370254   ENSP00000416415   ENSP00000370240   ENSP00000412248  
    Reactome Protein details: Q04828
    Human Recombinant Protein Products for AKR1C1: 
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    ProSpec Recombinant Protein for AKR1C1
    Cloud-Clone Corp. Proteins for AKR1C1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    AKR1C1 for ontologies           About GeneDecksing



    AKR1C1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/12 molecular function terms (GO ID links to tree view) (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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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKR1C1 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AKR1C1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Naphthalene metabolism
    Naphthalene metabolism0.32
    Benzo(a)pyrene metabolism0.32
    2Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.87
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.61
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.87
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.56
    Bile acid and bile salt metabolism0.74
    3Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    Retinoid metabolism and transport0.48
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    5Drug metabolism - cytochrome P450
    Metabolism of xenobiotics by cytochrome P4500.77

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AKR1C1
        Naphthalene metabolism


    1 GeneGo (Thomson Reuters) Pathway for AKR1C1
        Naphthalene metabolism

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

    5/12        Reactome Pathways for AKR1C1 (see all 12)
        Diseases associated with visual transduction
    Bile acid and bile salt metabolism
    Metabolism
    Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol


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


    AKR1C1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKR1C1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for AKR1C1 (Q048282, 3 ENSP000003702544) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COMMD8Q9NX082, 3, ENSP000003709844MINT-8252615 I2D: score=2 STRING: ENSP00000370984
    MAPK3P273613, ENSP000002630254I2D: score=2 STRING: ENSP00000263025
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP2B6ENSP000003246484STRING: ENSP00000324648
    EPHX1ENSP000002721674STRING: ENSP00000272167
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AKR1C1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AKR1C1 (AK1C1)

    10/14 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

    10/41 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)

    Search CenterWatch for drugs/clinical trials and news about AKR1C1 / AK1C1

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 

    24/31 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 

    24/413 AceView cDNA sequences (see all 413):

    CB107086 BX283531 BU683859 CA314572 CB122143 CA411586 F06821 BQ217413 
    BM819993 CB107471 AB040821 AI203621 BM981653 CB118258 CB113447 T11412 
    AF263242 CB123903 BC020216 D26124 CB107984 AA905825 BU630856 CB108236 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/23 selected tissues (see all 23) fully expand
     
     Lung (Respiratory System)    fully expand to see all 6 entries
             Pulmonary Capillary Plexus
             bronchus ; respiratory epithelial cells   
             visceral organ/lung/right lung   
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Hepatocytes Liver Lobule
             Liver Lobule
             liver ; bile duct cells   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Umbilical vein endothelial cells Umbilical Veins
             Human corneal endothelial cells
             colon ; endothelial cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Umbilical vein endothelial cells Umbilical Veins
             Umbilical Arteries
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   

    See AKR1C1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKR1C1

    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

        SABiosciences Custom PCR Arrays for AKR1C1
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AKR1C1 gene from 9/17 species (see all 17)    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 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    40(a)
    possible ortholog
    AAWZ02039178(2232-9123)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC053793.12   -- 74.56(n)    BC053793.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:566226
    zgc:56622
    43(a)
    possible ortholog
    18(12660381-12669534)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60843 aldehyde reductase 50(a)
    (best of 7)
      68C15   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y39G8B.1a3   -- 41(a)
    (best of 10)
      II(13970799-13972831)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GRE36
    Aldose reductase involved in methylglyoxal, d-xylo...
    37(a)
    1 → many
    VIII(323409-324392)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G599601 putative Aldo/keto reductase 50.55(n)
    43.96(a)
      842290  NM_104688.3  NP_176204.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04477001 hypothetical protein 48.46(n)
    41.7(a)
      4335976  NM_001059453.1  NP_001052918.1 


    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)
    About This Section
    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    AKR1E2    AKR1A1    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/377 SNPs in AKR1C1 are shown (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
    ----------
    VAR_0482154
    ----see VAR_0482152 Q L mis40--------
    VAR_0482144
    ----see VAR_0482142 R H mis40--------
    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--------

    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

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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.)
    About This Section
    OMIM gene information: 600449    OMIM disorders: --

    20/27 diseases for AKR1C1 (see all 27):    About MalaCards
    legg-calve-perthes disease    ovarian endometriosis    hepatitis    alcoholism
    endometriosis    polycystic ovary syndrome    non-hodgkin lymphoma    hodgkin's lymphoma
    esophageal squamous cell carcinoma    cytochrome p450    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    lung cancer    prostatitis    prostate cancer    esophagitis
    squamous cell carcinoma    colon cancer    cervical cancer    breast cancer


    AKR1C1 for disorders           About GeneDecksing


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

    10/17 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)
    About This Section

    PubMed articles for AKR1C1 gene, integrated from 9 sources (see all 150):
    (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. (1996)
    2. Characterization of a human 20alpha-hydroxysteroid dehydrogenase. (PubMed id 11013348)1, 2, 9 Zhang Y.... Luu-The V. (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. (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. (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. (1993)
    6. Genetic variation in the progesterone receptor and me tabolism pathways and hormone therapy in relation to breast cancer risk. (PubMed id 19846565)1, 4, 9 Reding K.W....Malone K.E. (2009)
    7. Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma. (PubMed id 16543247)1, 4, 9 Wang S.S....Rothman N. (2006)
    8. Regulation of human dihydrodiol dehydrogenase by Michael acceptor xenobiotics. (PubMed id 7515059)1, 2, 9 Ciaccio P.J.... Tew K.D. (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. (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. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1645 HGNC: 384 AceView: AKR1C1andAKR1CL2 Ensembl:ENSG00000187134 euGenes: HUgn1645
    ECgene: AKR1C1 Kegg: 1645 H-InvDB: AKR1C1

    (According to HUGE)
    About This Section
      --

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



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    About This Section

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