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

AKR1C1 Gene

protein-coding   GIFtS: 67
GCID: GC10P004995

aldo-keto reductase family 1, member C1

(Previous names: aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase...)
(Previous symbol: DDH1)
 Explore 33 diseases affiliated with
AKR1C1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AKR1C1    

Aliases
for AKR1C1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aldo-Keto Reductase Family 1, Member C11 2     20-ALPHA-HSD2
DDH11 2 3 5     C92
DDH1 2 3     H-372
DD11 2 5     Aldo-Keto Reductase C2
HAKRC1 2 5     Aldo-Keto Reductase Family 1 Member C12
MBAB1 2     Dihydrodiol Dehydrogenase 12
Chlordecone Reductase Homolog HAKRC2 3     Dihydrodiol Dehydrogenase 1; 20-Alpha (3-Alpha)-Hydroxysteroid Dehydrogenase2
Dihydrodiol Dehydrogenase 1/22 3     Dihydrodiol Dehydrogenase Isoform DD12
High-Affinity Hepatic Bile Acid-Binding Protein2 3     Hepatic Dihydrodiol Dehydrogenase2
Indanol Dehydrogenase2 3     Type II 3-Alpha-Hydroxysteroid Dehydrogenase2
Trans-1,2-Dihydrobenzene-1,2-Diol Dehydrogenase2 3     20-Alpha-HSD1
20-Alpha-Hydroxysteroid Dehydrogenase2 3     EC 1.1.1.-3
DD1/DD22 3     EC 1.1.1.1123
HBAB2 3     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


Summaries
for AKR1C1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  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 plasmid: AKR1C1 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

Proteins
for AKR1C1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q04828

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

    AKR1C1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001344.2  
    ENSEMBL proteins: 
     ENSP00000370254   ENSP00000416415   ENSP00000370240   ENSP00000412248  
    Reactome Protein details: Q04828
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: AKR1C1
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    Novus Biologicals AKR1C1 Proteins
    Novus Biologicals AKR1C1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for AKR1C1
    Uscn 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 IDA8486699


    AKR1C1 for ontologies           About GeneDecksing



    AKR1C1 Antibody Products: 
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    Uscn ELISAs and CLIAs for AKR1C1

    Protein Domains /
    Families
    for AKR1C1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AKR1C1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB001395 Aldo/keto reductase

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


    Function
    for AKR1C1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: AKR1C1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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



    Pathways & Interactions
    for AKR1C1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Naphthalene metabolism
    		Naphthalene metabolism1.00
    		Benzo(a)pyrene metabolism0.32
    		Naphthalene metabolism1.00
    2Retinoid metabolism and transport
    		Retinoid metabolism and transport1.00
    		Diseases associated with visual transduction0.73
    		Visual phototransduction0.74
    3Disease
    		Disease1.00
    4Steroid hormone biosynthesis
    		Steroid hormone biosynthesis1.00
    5Drug metabolism - cytochrome P450
    		Metabolism of xenobiotics by cytochrome P4500.73

    Pathway sources
    See GeneCards unified pathways
    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        Reactome Pathways for AKR1C1
        Diseases associated with visual transduction
    Retinoid metabolism and transport
    Signal Transduction
    Visual phototransduction
    Disease


    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): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006805xenobiotic metabolic process NAS8486699
    GO:0007586digestion IDA8486699
    GO:0008206bile acid metabolic process IDA8486699
    GO:0015721bile acid and bile salt transport TAS8486699
    GO:0030299intestinal cholesterol absorption TAS8486699


    AKR1C1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AKR1C1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for AKR1C1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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)

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AKR1C1 (see all 4)
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    Clone
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    Primer
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    Additional cDNA 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.92462965  DT.97855879  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.92462921 

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

    BX283531 CB108557 AF263242 BU158378 T15924 CB107471 BM819993 NM_031436 
    BQ217413 AA905825 AB040822 CA314572 BC020216 CR611068 F06821 BM981653 
    F03084 CB122143 BM799067 T11412 BC002862 AI203621 BU681702 CA310606 

    GeneLoc Exon Structure


    Expression
    for AKR1C1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGTCTGCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AKR1C1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Umbilical CordUmbilical VeinsUmbilical vein endothelial cellsEndothelium
    LiverLiver LobuleLiver
    LungPulmonary Capillary PlexusLung
    Umbilical CordUmbilical ArteriesUmbilical Cord
    Umbilical CordUmbilical VeinsUmbilical Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    White adipocyte-like cells (Differentiation of ...)Adipose

    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

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    In Situ
    Assay Products:     
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    Orthologs
    for AKR1C1 gene

    (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 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 40(a)
    		 possible ortholog
    		 AAWZ02039178(2232-9058)
    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   --
    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
    for AKR1C1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKR1C1 gene
    AKR1C21 2  AKR1C32  AKR1CL12  AKR1B102  AKR1A12  AKR1E22  AKR1C42  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


    Genomic Variants
    for AKR1C1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/406 NCBI SNPs in AKR1C1 are shown (see all 406)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs714996181,2
    		--4979789(-) GGAGGAAGA/-  
                AAGAA     		2 -- ut511Minor allele frequency- -:0.50NA 2
    rs714778861,2
    		--4980084(-) TTTCTG/ATATTC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs714778841,2
    		--4980116(-) ACACAC/AACAAA 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs714778831,2
    		--4980121(-) TCATGG/ACACAA 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs727699931,2
    		C,--4981721(+) GAAGCA/TTTTAA 1 -- us2k10--------
    rs1908693761,2
    		--5003500(+) ACTTTC/TTTTGC 1 -- us2k10--------
    rs1113441201,2
    		--5003512(+) CCAATG/TTTTTC 1 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs1120755821,2
    		--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

    HapMap Linkage Disequilibrium report for AKR1C1 (4934796 - 5025475 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AKR1C1
         2 Inversions: 59908 37110

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    Disorders / Diseases
    for AKR1C1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AKR1C1 for disorders           About GeneDecksing

    OMIM gene information: 600449    OMIM disorders: --

    20/33 diseases for AKR1C1 (see all 33):    About MalaCards
    legg-calve-perthes disease    hepatitis    non-hodgkin lymphoma    polycystic ovary syndrome
    esophageal squamous cell carcinoma    squamous cell carcinoma    hodgkin's lymphoma    intrahepatic cholangiocarcinoma
    alcoholism    endometrial cancer    ovarian endometriosis    ovarian carcinoma
    carcinoma    endometriosis    cholangiocarcinoma    prostate cancer
    breast cancer    hepatocellular carcinoma    alzheimer's disease    esophagitis

    10/17 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: AKR1C1 (9 documents)

    Export disorders for AKR1C1 gene to outside databases

    Publications
    for AKR1C1 gene

    (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 147):
    (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. Regulation of human dihydrodiol dehydrogenase by Michael acceptor xenobiotics. (PubMed id 7515059)1, 2, 9 Ciaccio P.J.... Tew K.D. (1994)
    7. 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)
    8. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Distribution of 3 alpha-hydroxysteroid dehydrogenase in rat brain and molecular cloning of multiple cDNAs encoding structurally related proteins in humans. (PubMed id 7626489)1, 2 Khanna M.... Cheng K.-C. (1995)

    External Searches for AKR1C1 gene

    (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)

    Genome Databases showing AKR1C1 gene

    (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

    Other Databases showing AKR1C1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AKR1C1 gene

    (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

    Intellectual Property
    for AKR1C1 gene

    (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



    Products
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