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

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)
 Explore 17 diseases affiliated with
AKR1C4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AKR1C4    

Aliases
for AKR1C4 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 C41 2     Chlordecone Reductase; 3-Alpha Hydroxysteroid Dehydrogenase, Type I;
Dihydrodiol Dehydrogenase 42
CDR1 2 3 5     Dihydrodiol Dehydrogenase Isozyme DD42
CHDR1 2 3 5     Type I 3-Alpha-Hydroxysteroid Dehydrogenase2
DD41 2 3 5     3-Alpha-Hydroxysteroid Dehydrogenase Type I3
HAKRA1 2 3 5     EC 1.1.1.-3
3-Alpha-HSD1     EC 1.1.1.2253
C111 2     EC 1.1.1.503
3-Alpha-HSD11     Chlordecone Reductase3
DD-42 3     Dihydrodiol Dehydrogenase 43
MGC225811     EC 1.1.18
Aldo-Keto Reductase Family 1, Member C4 (Chlordecone Reductase; 3-Alpha
Hydroxysteroid Dehydrogenase, Type I; Dihydrodiol Dehydrogenase 4)1
     EC 1.1.1.2748
Aldo-Keto Reductase Family 1 Member C42     

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


Summaries
for AKR1C4 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 AKR1C4:
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)

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


Genomic Views
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 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 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 plasmid: AKR1C4 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKR1C4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 5,237,426 bp from pter      End:
 5,260,912 bp from pter
Size:
 23,487 bases      Orientation:
 plus strand

Proteins
for AKR1C4 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: AK1C4_HUMAN, P17516 (See protein sequence)
Recommended Name: Aldo-keto reductase family 1 member C4  
Size: 323 amino acids; 37067 Da
Subunit: Monomer
Subcellular location: Cytoplasm
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

Post-translational modifications:

  • The N-terminus is blocked1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P17516

    • 3 DME Specific Peptides for AKR1C4 (P17516)
     EKCKDAGL  KSIGVSNFN  SLKKLQLDY 

    AKR1C4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001809.3  
    ENSEMBL proteins: 
     ENSP00000369814   ENSP00000263126  
    Reactome Protein details: P17516
    Human Recombinant Protein Products: 
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    Novus Biologicals AKR1C4 Proteins
    Novus Biologicals AKR1C4 Lysates
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    ProSpec Recombinant Protein for AKR1C4
    Uscn Proteins for AKR1C4

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    AKR1C4 for ontologies           About GeneDecksing



    AKR1C4 Antibody Products: 
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    Uscn ELISAs and CLIAs for AKR1C4

    Protein Domains /
    Families
    for AKR1C4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AKR1C4 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 P17516

    ProtoNet protein and cluster: P17516

    1 Blocks protein family: IPB001395 Aldo/keto reductase

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


    Function
    for AKR1C4 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: 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 1.1.1.501 EC 1.1.12 EC 1.1.1.-1 EC 1.1.1.2742

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKR1C4
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    SwitchGear 3'UTR luciferase reporter plasmid: AKR1C4 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: AKR1C4
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AKR1C4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for AKR1C4

    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for AKR1C4

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1C4

    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    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--


    AKR1C4 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for AKR1C4 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 - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of bile acids and bile salts
    		Synthesis of bile acids and bile salts1.00
    		Bile acid and bile salt metabolism0.70
    		Primary bile acid biosynthesis0.84
    		Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.53
    		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.79
    		Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.37
    2Retinoid metabolism and transport
    		Retinoid metabolism and transport1.00
    		Diseases associated with visual transduction0.73
    		Visual phototransduction0.74
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    4Naphthalene metabolism
    		Naphthalene metabolism1.00
    		Benzo(a)pyrene metabolism0.32
    		Naphthalene metabolism1.00
    5Disease
    		Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for AKR1C4
        Naphthalene metabolism


    1 GeneGo (Thomson Reuters) Pathway for AKR1C4
        Naphthalene metabolism

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

    5/12        Reactome Pathways for AKR1C4 (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


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


    AKR1C4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AKR1C4

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

    5/33 Interacting proteins for AKR1C4 (ENSP000002631264) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    CYP2B6ENSP000003246484STRING: ENSP00000324648
    HSD11B1ENSP000002614654STRING: ENSP00000261465
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0008202steroid metabolic process TAS8274401
    GO:0008206bile acid metabolic process TAS--
    GO:0008209androgen metabolic process TAS7650035
    GO:0015721bile acid and bile salt transport TAS8172617


    AKR1C4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AKR1C4 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

    AKR1C4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for AKR1C4

    10/27 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

    10/26 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about AKR1C4 / AK1C4 

    Transcripts
    for AKR1C4 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 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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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AKR1C4
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    Additional cDNA 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 

    24/36 AceView cDNA sequences (see all 36):

    BM825023 T74919 BG616711 NM_001818 D26125 AV694764 AB031085 AV645550 
    BG188594 M33375 AV658612 BX283533 BG616759 S68287 BC020744 AV653980 
    AV687340 AV646269 AB045829 BG196882 BG215635 AV691883 BG616798 T74867 

    GeneLoc Exon Structure


    Expression
    for AKR1C4 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

    AKR1C4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCCAGAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See AKR1C4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKR1C4

    SOURCE GeneReport for Unigene cluster: Hs.567245

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

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    Orthologs
    for AKR1C4 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 AKR1C4 gene from 7/20 species (see all 20)    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 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 42(a)
    		 possible ortholog
    		 AAWZ02039178(2232-9058)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC060397.12   -- 76.21(n)    BC060397.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:566226
    		 zgc:56622
    		 44(a)
    		 possible ortholog
    		 18(12660381-12669534)
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG127663 aldehyde reductase 43(a)
    (best of 5)    		   64A1   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G016701 putative aldose reductase 50.17(n)
    37.88(a)    		   831701  NM_120245.3  NP_195787.2 
    rice
    (Oryza sativa)    		 Liliopsida Os05g04746001 hypothetical protein 50(n)
    40.22(a)    		   4339090  NM_001062361.1  NP_001055826.1 


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

    Paralogs
    for AKR1C4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKR1C4 gene
    AKR1C22  AKR1C32  AKR1CL12  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

    AKR1C4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AKR1C4
    PGOHUM00000262838


    Genomic Variants
    for AKR1C4 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

    UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516
    Polymorphism: 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


    10/581 NCBI SNPs in AKR1C4 are shown (see all 581)     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,--5236808(+) aatgcC/Ttgtaa 1 -- us2k112Minor allele frequency- T:0.04NS EA NA WA 1550
    rs1997563091,2
    		--5236819(+) TTCTT-/CACAGTT 1 -- us2k10--------
    rs114025331,2
    		C,--5236982(+) TTCTT-/AAGTCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs114275181,2
    		C--5236983(+) TCTTAA/-GTCTC 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1392644881,2
    		--5237029(+) AGTTCA/TTTTCT 1 -- us2k10--------
    rs1904167481,2
    		--5237039(+) TGAACA/GTGCAT 1 -- us2k10--------
    rs1814565101,2
    		--5237047(+) CATCTA/GCCTAG 1 -- us2k10--------
    rs1864045831,2
    		--5237056(+) AGACTC/GTGTGT 1 -- us2k10--------
    rs1123760241,2
    		C,--5237092(+) AATGGC/-TTTTG 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs2008451521,2
    		C--5237093(+) AATGGC/TTNNNN 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AKR1C4 (5237426 - 5260912 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for AKR1C4
         3 CNVs: 43699 65576 34880
         3 Indels: 85086 85085 75085
    Human Gene Mutation Database (HGMD): AKR1C4

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    Disorders / Diseases
    for AKR1C4 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
    AKR1C4 for disorders           About GeneDecksing

    OMIM gene information: 600451    OMIM disorders: --

    UniProtKB/Swiss-Prot: AK1C4_HUMAN, P17516
  • Defects in AKR1C4 are a cause of 46,XY sex reversal type 8 (SRXY8) [MIM:614279]. A disorder of sex
    • development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. Note=AKR1C4
    mutations may act as modifier of disease severity in SRXY8 patients. A splicing mutation resulting in loss of exon 2
    has been found in affected individuals also carrying mutation Val-79 in AKR1C2 (PubMed:21802064)

    17 diseases for AKR1C4:    About MalaCards
    xy sex reversal    sex reversal    disorders of sex development    alcoholism
    bipolar disorder    prostate cancer    prostate cancer, progression of    prostatitis
    prostate carcinoma    liver disease    pulmonary disease    carcinoma
    alzheimer's disease    breast cancer    retinitis    hepatitis
    neuronitis

    5 Novoseek 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

    Publications
    for AKR1C4 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 AKR1C4 gene, integrated from 9 sources (see all 115):
    (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. (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. (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. (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. (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. (2000)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    7. 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)
    8. Human types 1 and 3 3 alpha-hydroxysteroid dehydrogenases: differential lability and tissue distribution. (PubMed id 11158055)1, 2 Dufort I.... Luu-The V. (2001)
    9. Characterization of a novel variant (S145C/L311V) of 3alpha- hydroxysteroid/dihydrodiol dehydrogenase in human liver. (PubMed id 10634139)1, 2 Kume T.... Kamataki T. (1999)
    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 AKR1C4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing AKR1C4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1109 HGNC: 387 AceView: AKR1C4 Ensembl:ENSG00000198610 euGenes: HUgn1109
    ECgene: AKR1C4 Kegg: 1109 H-InvDB: AKR1C4

    Other Databases showing AKR1C4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AKR1C4 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 AKR1C4 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for AKR1C4 gene

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

    GeneCards and IP:
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