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AKR1C4 Gene

protein-coding   GIFtS: 66
GCID: GC10P005228

Aldo-Keto Reductase Family 1, Member C4

(Previous names: aldo-keto reductase family 1, member C4 (chlordecone reductase;...)
(Previous symbol: CHDR)
  See AKR1C4-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)
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Aliases
Aldo-Keto Reductase Family 1, Member C41 2     Aldo-Keto Reductase Family 1 Member C42
CHDR1 2 3 5     Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase, Type I;
Dihydrodiol Dehydrogenase 42
CDR2 3 5     Dihydrodiol Dehydrogenase Isozyme DD42
DD42 3 5     Type I 3-Alpha-Hydroxysteroid Dehydrogenase2
HAKRA2 3 5     3-Alpha-Hydroxysteroid Dehydrogenase Type I3
3-alpha-HSD12 3     EC 1.1.1.-3
DD-42 3     EC 1.1.1.2253
Aldo-Keto Reductase Family 1, Member C4 (Chlordecone Reductase; 3-Alpha
Hydroxysteroid Dehydrogenase, Type I; Dihydrodiol Dehydrogenase 4)1
     EC 1.1.1.3573
Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase1     Chlordecone Reductase3
Type I; Dihydrodiol Dehydrogenase 41     Dihydrodiol Dehydrogenase 43
3-alpha-HSD2     EC 1.1.18
C112     EC 1.1.1.2748

External Ids:    HGNC: 3871   Entrez Gene: 11092   Ensembl: ENSG000001986107   OMIM: 6004515   UniProtKB: P175163   

Export aliases for AKR1C4 gene to outside databases

Previous GC identifers: GC10P005286 GC10P005105 GC10P005091 GC10P005092


(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 AKR1C4 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 bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol
in liver. 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 AKR1C4 Gene:
AKR1C4 (aldo-keto reductase family 1, member C4) is a protein-coding gene. Diseases associated with AKR1C4 include 46xy sex reversal 8, modifier of, and 46xy sex reversal 8. GO annotations related to this gene include electron carrier activity and oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor. An important paralog of this gene is AKR1C2.

UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516
Function: Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form,
5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase
activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to
increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the
major excretory route

Gene Wiki entry for AKR1C4 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 at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AKR1C4 gene promoter:
         HFH-3   STAT1   FOXF2   Pax-6   HNF-4alpha2   HNF-4alpha1   Evi-1   C/EBPalpha   FOXI1   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKR1C4 promoter sequence
   Search Chromatin IP Primers for AKR1C4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKR1C4


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

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

AKR1C4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR1C4 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P005228:  view genomic region     (about GC identifiers)

Start:
5,237,425 bp from pter      End:
5,260,912 bp from pter
Size:
23,488 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516 (See protein sequence)
Recommended Name: Aldo-keto reductase family 1 member C4  
Size: 323 amino acids; 37067 Da
Subunit: Monomer
Sequence caution: Sequence=AAA35658.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for AKR1C4:
2FVL (3D)    
Secondary accessions: Q5T6A3 Q8WW84 Q9NS54

Explore the universe of human proteins at neXtProt for AKR1C4: NX_P17516

Explore proteomics data for AKR1C4 at MOPED

Post-translational modifications: 

  • The N-terminus is blocked1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for AKR1C4 (P17516)
     EKCKDAGL  KSIGVSNFN  SLKKLQLDY 


    See AKR1C4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001809.3  
    ENSEMBL proteins: 
     ENSP00000369814   ENSP00000263126  
    Reactome Protein details: P17516

    AKR1C4 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 P17516

    ProtoNet protein and cluster: P17516

    1 Blocks protein domain: IPB001395 Aldo/keto reductase

    UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516
    Similarity: Belongs to the aldo/keto reductase family


    Find genes that share domains with AKR1C4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AK1C4_HUMAN, P17516
    Function: Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form,
    5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase
    activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to
    increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the
    major excretory route
    Catalytic activity: Chlordecone alcohol + NADP(+) = chlordecone + NADPH
    Catalytic activity: A 3-alpha-hydroxysteroid + NAD(P)(+) = a 3-oxosteroid + NAD(P)H

         Genatlas biochemistry entry for AKR1C4:
    aldo-keto reductase family 1,member C4 (3-alpha hydroxysteroid dehydrogenase,type I),with high affinity for
    dihydrotestosterone,chlordecone reductase,specifically expressed in liver,cytosolic,catalyzing detoxification of
    organochloride pesticids

         Enzyme Numbers (IUBMB): EC 1.1.1.2251 EC 1.1.12 EC 1.1.1.-1 EC 1.1.1.2742 EC 1.1.1.3571

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001758retinal dehydrogenase activity IDA--
    GO:0004033aldo-keto reductase (NADP) activity TAS7650035
    GO:0009055electron carrier activity TAS8172617
    GO:0015125bile acid transmembrane transporter activity TAS8172617
    GO:0016655oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA--
         
    Find genes that share ontologies with AKR1C4           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for AKR1C4:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella-containin 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AKR1C4

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    Inhib. RNA
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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
    AK1C4_HUMAN, P17516: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS2187532
    GO:0005829cytosol TAS--

    Find genes that share ontologies with AKR1C4           About GenesLikeMe


    (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 AKR1C4 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
    Primary bile acid biosynthesis0.00
    Bile acid and bile salt metabolism0.73
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    4Biological oxidations
    metapathway biotransformation0.42
    Benzo(a)pyrene metabolism0.00
    5Chemical carcinogenesis
    Metabolism of xenobiotics by cytochrome P4500.71


    Find genes that share SuperPaths with AKR1C4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for AKR1C4
        Naphthalene metabolism

    2 BioSystems Pathways for AKR1C4
        Benzo(a)pyrene metabolism
    metapathway biotransformation


    4 Reactome Pathways for AKR1C4
        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


    4 Kegg Pathways  (Kegg details for AKR1C4):
        Primary bile acid biosynthesis
    Steroid hormone biosynthesis
    Metabolism of xenobiotics by cytochrome P450
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKR1C4
    Interactions:

        Search GeneGlobe Interaction Network for AKR1C4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AKR1C4 (ENSP000002631264) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP1A2ENSP000003420074STRING: ENSP00000342007
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    CYP2B6ENSP000003246484STRING: ENSP00000324648
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006699bile acid biosynthetic process TAS--
    GO:0007603phototransduction, visible light TAS--
    GO:0008202steroid metabolic process TAS8274401
    GO:0008206bile acid metabolic process TAS--

    Find genes that share ontologies with AKR1C4           About GenesLikeMe



    (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 AKR1C4 (AK1C4)

    Selected HMDB Compounds for AKR1C4 (see all 27)    About this table
    CompoundSynonyms CAS #PubMed Ids
    11b,21-Dihydroxy-3,20-oxo-5b-pregnan-18-al-- (see all 2)----
    11b,21-Dihydroxy-5b-pregnane-3,20-dione5beta-Pregnane-11beta,21-diol-3,20-dione (see all 2)566-01-8--
    17a,21-Dihydroxy-5b-pregnane-3,11,20-trione5beta-Pregnane-17alpha,21-diol-3,11,20-trione (see all 8)68-54-2--
    21-Hydroxy-5b-pregnane-3,11,20-trione21-Hydroxy-5beta-pregnane-3,11,20-trione 10417-86-4--
    3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al-- (see all 2)----
    3a,21-Dihydroxy-5b-pregnane-11,20-dione5beta-Pregnane-3alpha,21-diol-11,20-dione (see all 2)566-03-0--
    3a,7a-Dihydroxy-5b-cholestane5beta-Cholestane-3alpha,7alpha-diol (see all 5)3862-26-8--
    3a-Hydroxy-5b-pregnane-20-one3alpha-Hydroxy-5beta-pregnane-20-one ----
    5-b-Cholestane-3a ,7a ,12a-triol5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol (see all 3)----
    5a-Pregnane-3,20-dione3,20-Allopregnanedione (see all 15)566-65-4--

    1 DrugBank Compound for AKR1C4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 11037109

    Selected Novoseek inferred chemical compound relationships for AKR1C4 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3alpha-hydroxysteroid 97.7 41 18024509 (2), 12604226 (2), 8172618 (1), 9415401 (1) (see all 38)
    5alpha-androstane-3alpha,17beta-diol 94.5 10 9415401 (1), 18252781 (1), 17223255 (1), 10487690 (1) (see all 10)
    1-acenaphthenol 89.3 2 10510318 (1)
    chlordecone 88.9 8 7789999 (2), 8172618 (1), 10510318 (1), 1922097 (1) (see all 7)
    dihydroprogesterone 88.7 1 18984031 (1)
    dihydrotestosterone 86 37 10760475 (3), 10487690 (3), 18252781 (2), 15383625 (2) (see all 14)
    5alpha-dihydroprogesterone 81.4 5 12416991 (2), 11744079 (1), 16018803 (1)
    allopregnanolone 71.8 11 12416991 (5), 16018803 (1)
    17beta-hydroxysteroid 71.2 3 17662597 (1), 9188497 (1), 14672737 (1)
    bile acid 70.3 1 8172617 (1)



    Find genes that share compounds with AKR1C4           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AKR1C4 gene: 
    NM_001818.3  

    Unigene Cluster for AKR1C4:

    Aldo-keto reductase family 1, member C4
    Hs.567245  [show with all ESTs]
    Unigene Representative Sequence: BC020744
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469875 ENST00000380448 ENST00000263126(uc001ihw.2)
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      QuantiFast Probe-based Assays in human, mouse, rat AKR1C4

    Additional mRNA sequence: 

    AB031085.1 AB045829.1 AK314988.1 BC020744.1 D26125.1 M33375.1 S68287.1 

    6 DOTS entries:

    DT.87079401  DT.91965414  DT.219274  DT.92462921  DT.92462951  DT.97855879 

    Selected AceView cDNA sequences (see all 36):

    NM_001818 T74919 BG616711 BM825023 AV653980 AB045829 AB031085 BC020744 
    BX283533 AV658612 AV646269 BG188594 AV645550 AV694764 S68287 BG616759 
    D26125 M33375 AV687340 T74867 AV691883 BG215635 BG616798 BG204534 

    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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    AKR1C4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCCAGAAAG
    AKR1C4 Expression
    About this image

    AKR1C4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKR1C4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567245

    UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516
    Tissue specificity: Liver specific

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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 AKR1C4 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akr1c61 aldo-keto reductase family 1, member C6 78.53(n)
    75.85(a)
      83702  NM_030611.3  NP_085114.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060397.12   -- 76.21(n)    BC060397.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G624201 AT5G62420 47.17(n)
    37.76(a)
      836363  NM_125636.1  NP_201048.1 


    ENSEMBL Gene Tree for AKR1C4 (if available)
    TreeFam Gene Tree for AKR1C4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AKR1C4 gene
    AKR1C22  AKR1CL12  AKR1C32  AKR1B102  AKR1A12  AKR1E22  AKR1B152  AKR1B12  
    AKR1D12  AKR1C12  
    11 SIMAP similar genes for AKR1C4 using alignment to 1 protein entry:     AK1C4_HUMAN:
    AKR1C3    AKR1C1    AKR1C2    AKR1CL1    AKR1D1    AKR1B15
    AKR1B1    AKR1B10    AKR1E2    AKR1A1    LOC402299

    Find genes that share paralogs with AKR1C4           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AKR1C4
    PGOHUM00000262838


    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    AK1C4_HUMAN, P17516: The allele with Cys-145/Val-311 shows a three- to five-fold decrease in catalytic efficiency for
    xenobiotic and steroidal substrates compared to the Ser-145/Leu-311 allele


    Selected SNPs for AKR1C4 (see all 713)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs70725961,2
    C,F,A,H--5154787(+) aatgcC/Ttgtaa 1 -- us2k112Minor allele frequency- T:0.04NS EA NA WA 1550
    rs1997563091,2
    --5154798(+) TTCTT-/CACAGTT 1 -- us2k10--------
    rs1392644881,2
    C--5155008(+) AGTTCA/TTTTCT 1 -- us2k10--------
    rs1904167481,2
    C--5155018(+) TGAACA/GTGCAT 1 -- us2k10--------
    rs1814565101,2
    --5155026(+) CATCTA/GCCTAG 1 -- us2k10--------
    rs1864045831,2
    --5155035(+) AGACTC/GTGTGT 1 -- us2k10--------
    rs1123760241,2
    C--5155071(+) AATGGC/-TTTTG 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs2008451521,2
    C--5155072(+) AATGGC/TTNNNN 1 -- us2k10--------
    rs1444568331,2
    --5155150(+) CTCTTC/GCCCCT 1 -- us2k10--------
    rs1909476441,2
    --5155267(+) TAATTC/TCATGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AKR1C4 (5237425 - 5260912 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for AKR1C4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2731707CNV Deletion23290073
    esv4943CNV Deletion18987735
    esv2665273CNV Deletion23128226
    esv2673923CNV Deletion23128226
    esv23753CNV Loss19812545
    nsv894783CNV Loss21882294
    nsv5643CNV Loss18451855
    nsv508566CNV Loss20534489
    nsv894792CNV Gain21882294

    Human Gene Mutation Database (HGMD): AKR1C4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AKR1C4
    DNA2.0 Custom Variant and Variant Library Synthesis for AKR1C4

    (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.)
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    OMIM gene information: 600451   
    OMIM disorders: 614279  
    UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516
  • 46,XY sex reversal 8 (SRXY8) [MIM:614279]: A disorder of sex development. Affected individuals have a
    46,XY karyotype but present as phenotypically normal females. Note=The gene represented in this entry may act as
    a disease modifier. A splicing mutation resulting in loss of AKR1C4 exon 2 has been found in affected individuals
    carrying a causative mutation in AKR1C2 (PubMed:21802064). These patients manifest a more severe disease
    phenotype than individuals only carrying mutations in AKR1C2

  • 2 diseases for AKR1C4:    
    About MalaCards
    46xy sex reversal 8, modifier of    46xy sex reversal 8


    Find genes that share disorders with AKR1C4           About GenesLikeMe

    5 Novoseek inferred disease relationships for AKR1C4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benign prostatic hyperplasia 38.1 2 9415401 (1), 10760475 (1)
    prostate cancer 26.4 2 18320593 (2)
    prostate carcinoma 26.1 1 9415401 (1)
    colon carcinoma 15.1 1 8573067 (1)
    carcinoma renal cell 0.174 1 12220531 (1)

    Genetic Association Database (GAD): AKR1C4
    Human Genome Epidemiology (HuGE) Navigator: AKR1C4 (9 documents)

    Export disorders for AKR1C4 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 AKR1C4 gene, integrated from 10 sources (see all 117):
    (articles sorted by number of sources associating them with AKR1C4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of cloned cDNAs encoding human liver chlordecone reductase. (PubMed id 2187532)1, 2, 9 Winters C.J.... Guzelian P.S. (Biochemistry 1990)
    2. Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study. (PubMed id 15987428)1, 4, 9 Lord S.J....Ursin G. (Breast Cancer Res. 2005)
    3. Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization. (PubMed id 7789999)1, 3, 9 Khanna M....Cheng K.C. (Genomics 1995)
    4. Molecular cloning of two human liver 3 alpha- hydroxysteroid/dihydrodiol dehydrogenase isoenzymes that are identical with chlordecone reductase and bile-acid binder. (PubMed id 8172617)1, 2, 9 Deyashiki Y.... Hara A. (Biochem. J. 1994)
    5. 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)
    6. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    7. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    8. Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer. (PubMed id 20214802)1, 4 Li J....Hall P. (Breast Cancer Res. 2010)
    9. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    10. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)

    (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: 1109 HGNC: 387 AceView: AKR1C4 Ensembl:ENSG00000198610 euGenes: HUgn1109
    ECgene: AKR1C4 Kegg: 1109 H-InvDB: AKR1C4

    (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)
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    NameDescription
    PharmGKB entry for AKR1C4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AKR1C4 gene:
    Search GeneIP for patents involving AKR1C4

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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