Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

AKR1D1 Gene

protein-coding   GIFtS: 64
GCID: GC07P137687

Aldo-Keto Reductase Family 1, Member D1

(Previous names: aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase))
(Previous symbol: SRD5B1)
  See related diseases
at  

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

Aliases
Aldo-Keto Reductase Family 1, Member D11 2     Aldo-Keto Reductase Family 1, Member D1 (Delta
4-3-Ketosteroid-5-Beta-Reductase)1
SRD5B11 2 3 5     3-Oxo-5-Beta-Steroid 4-Dehydrogenase2
Delta 4-3-Ketosteroid-5-Beta-Reductase1 2     3o5bred2
Delta(4)-3-Ketosteroid 5-Beta-Reductase2 3     Steroid-5-Beta-Reductase, Beta Polypeptide 1 (3-Oxo-5 Beta-Steroid Delta
4-Dehydrogenase Beta 1)2
Delta(4)-3-Oxosteroid 5-Beta-Reductase2 3     EC 1.3.1.33
CBAS22 5     Aldo-Keto Reductase Family 1 Member D13

External Ids:    HGNC: 3881   Entrez Gene: 67182   Ensembl: ENSG000001227877   OMIM: 6047415   UniProtKB: P518573   

Export aliases for AKR1D1 gene to outside databases

Previous GC identifers: GC07P136103 GC07P137089 GC07P137177 GC07P137218 GC07P137411 GC07P132069


(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 AKR1D1 Gene:
The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid
intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute
to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene.
Other variants may be present, but their full-length natures have not been determined yet. (provided by RefSeq,
Jul 2010)

GeneCards Summary for AKR1D1 Gene: 
AKR1D1 (aldo-keto reductase family 1, member D1) is a protein-coding gene. Diseases associated with AKR1D1 include bile acid synthesis defect, congenital, 2, and congenital bile acid synthesis defect, and among its related super-pathways are Synthesis of bile acids and bile salts and Metabolic pathways. GO annotations related to this gene include delta4-3-oxosteroid 5beta-reductase activity and steroid binding. An important paralog of this gene is AKR1C2.

UniProtKB/Swiss-Prot: AK1D1_HUMAN, P51857
Function: Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and
testosterone to 5-beta-reduced metabolites. The bile acid intermediates
7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKR1D1 gene promoter:
         HOXA3   Pbx1a   MEF-2   CUTL1   POU3F2   MEF-2A   SEF-1 (1)   aMEF-2   Msx-1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AKR1D1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKR1D1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKR1D1


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

Entrez Gene cytogenetic band: 7q32-q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q32-q33

AKR1D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR1D1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P137687:  view genomic region     (about GC identifiers)

Start:
137,687,070 bp from pter      End:
137,803,050 bp from pter
Size:
115,981 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 137,106,397-137,148,256     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AK1D1_HUMAN, P51857 (See protein sequence)
Recommended Name: 3-oxo-5-beta-steroid 4-dehydrogenase  
Size: 326 amino acids; 37377 Da
Subcellular location: Cytoplasm
6/14 PDB 3D structures from and Proteopedia for AKR1D1 (see all 14):
3BUR (3D)        3BUV (3D)        3BV7 (3D)        3CAQ (3D)        3CAS (3D)        3CAV (3D)    
Secondary accessions: A1L4P6 A8K060 B4DPN3 B4DPN8
Alternative splicing: 3 isoforms:  P51857-1   P51857-2   P51857-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AKR1D1: NX_P51857

Explore proteomics data for AKR1D1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51857

  • AKR1D1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKR1D1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001177835.1  NP_001177836.1  NP_005980.1  

    ENSEMBL proteins: 
     ENSP00000389197   ENSP00000402374   ENSP00000242375   ENSP00000397042  
    Reactome Protein details: P51857
    Human Recombinant Protein Products for AKR1D1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for AKR1D1
    OriGene Protein Over-expression Lysate for AKR1D1
    OriGene MassSpec for AKR1D1 
    OriGene Custom Protein Services for AKR1D1
    GenScript Custom Purified and Recombinant Proteins Services for AKR1D1
    Novus Biologicals AKR1D1 Proteins
    Novus Biologicals AKR1D1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for AKR1D1
    Cloud-Clone Corp. Proteins for AKR1D1 

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

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

    AKR1D1 for ontologies           About GeneDecksing



    AKR1D1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for AKR1D1
    GenScript Custom Superior Antibodies Services for AKR1D1
    Novus Biologicals AKR1D1 Antibodies
    Abcam antibodies for AKR1D1
    Cloud-Clone Corp. Antibodies for AKR1D1 
    ThermoFisher Antibodies for AKR1D1
    LSBio Antibodies in human, mouse, rat for AKR1D1 

    Assay Products for AKR1D1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AKR1D1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AKR1D1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AKR1D1 
    Cloud-Clone Corp. CLIAs for AKR1D1


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

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

    Graphical View of Domain Structure for InterPro Entry P51857

    ProtoNet protein and cluster: P51857

    1 Blocks protein domain: IPB001395 Aldo/keto reductase

    UniProtKB/Swiss-Prot: AK1D1_HUMAN, P51857
    Similarity: Belongs to the aldo/keto reductase family


    AKR1D1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AK1D1_HUMAN, P51857
    Function: Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and
    testosterone to 5-beta-reduced metabolites. The bile acid intermediates
    7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one can also act as substrates
    Catalytic activity: 5-beta-cholestan-3-one + NADP(+) = cholest-4-en-3-one + NADPH
    Catalytic activity: 17,21-dihydroxy-5-beta-pregnane-3,11,20-trione + NADP(+) = cortisone
    Enzyme regulation: Subject to inhibition by high substrate concentrations. Inhibited by testosterone
    concentrations above 10 uM
    Biophysicochemical properties: Kinetic parameters: KM=2.7 uM for testosterone;

         Genatlas biochemistry entry for AKR1D1:
    aldo-keto reductase family 1,member D1 (delta 4-3-ketosteroid-5-beta-reductase),expressed in liver,catalyzing the
    reduction of the delta 4 double bond of bile acid intermediates and steroid hormones with the delta 4-3 one
    structure in the A/B cis configuration

         Enzyme Number (IUBMB): EC 1.3.1.31

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005496steroid binding TAS7508385
    GO:0047787delta4-3-oxosteroid 5beta-reductase activity IEA--
         
    AKR1D1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AKR1D1:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AKR1D1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AKR1D1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKR1D1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AKR1D1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKR1D1
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate AKR1D1 (see all 11):
    hsa-miR-18a hsa-miR-7-2* hsa-miR-520a-5p hsa-miR-373* hsa-miR-421 hsa-miR-10b* hsa-miR-4261 hsa-miR-525-5p
    SwitchGear 3'UTR luciferase reporter plasmidAKR1D1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AKR1D1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AKR1D1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AKR1D1
    Sirion Biotech Customized adenovirus for overexpression of AKR1D1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for AKR1D1 (see all 13)
    OriGene ORF clones in mouse, rat for AKR1D1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AKR1D1 (NM_005989)
    Sino Biological Human cDNA Clone for AKR1D1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AKR1D1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKR1D1
    Sirion Biotech Customized lentivirus for stable overexpression of AKR1D1 
                         Customized lentivirus expression plasmids for stable overexpression of AKR1D1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AKR1D1
    Search LifeMap BioReagents cell lines for AKR1D1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1D1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AKR1D1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.87
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.61
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.87
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.56
    Bile acid and bile salt metabolism0.74
    bile acid biosynthesis, neutral pathway0.50
    Primary bile acid biosynthesis0.74
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Biological oxidations
    metapathway biotransformation0.41
    4Glucuronidation
    Steroid hormone biosynthesis0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for AKR1D1
        bile acid biosynthesis, neutral pathway
    metapathway biotransformation


    5/7        Reactome Pathways for AKR1D1 (see all 7)
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Bile acid and bile salt metabolism
    Metabolism
    Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol


    3         Kegg Pathways  (Kegg details for AKR1D1):
        Primary bile acid biosynthesis
    Steroid hormone biosynthesis
    Metabolic pathways


    AKR1D1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AKR1D1

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

    5/37 Interacting proteins for AKR1D1 (ENSP000002423754) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    CYP11B2ENSP000003258224STRING: ENSP00000325822
    CYP17A1ENSP000003589034STRING: ENSP00000358903
    CYP19A1ENSP000002604334STRING: ENSP00000260433
    CYP8B1ENSP000003188674STRING: ENSP00000318867
    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:0006707cholesterol catabolic process IDA7508385
    GO:0007586digestion IDA7508385
    GO:0008206bile acid metabolic process TAS--
    GO:0008207C21-steroid hormone metabolic process IDA7508385

    AKR1D1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AKR1D1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for AKR1D1 (AK1D1)

    10/24 HMDB Compounds for AKR1D1 (see all 24)    About this table
    CompoundSynonyms CAS #PubMed Ids
    11-Dehydrocorticosterone11-dehydro-Corticosterone (see all 15)72-23-1--
    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--
    19-Oxotestosterone 4075-13-2--
    21-Hydroxy-5b-pregnane-3,11,20-trione21-Hydroxy-5beta-pregnane-3,11,20-trione 10417-86-4--
    5a-Pregnane-3,20-dione3,20-Allopregnanedione (see all 15)566-65-4--
    5b-Dihydrotestosterone17beta-hydroxy-5beta-androstan-3-one (see all 2)571-22-2--
    5beta-Cholestanone5beta Cholestanone (see all 4)601-53-6--
    7a,12a-Dihydroxy-5b-cholestan-3-one7a,12a-Dihydroxy-5b-cholestan-3-one (see all 4)----
    7a,12a-Dihydroxy-cholestene-3-one7-alpha,12-alpha-dihydroxy-4-cholesten-3-one (see all 7)----

    4 DrugBank Compounds for AKR1D1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (5BETA)-PREGNANE-3,20-DIONE-- --target--10592235
    5-beta-DIHYDROTESTOSTERONE-- --target--10592235
    Azelaic AcidAnchoic acid (see all 7)123-99-9targetinhibitor3207614
    FinasterideFinasterida [INN-Spanish] (see all 2)98319-26-7targetinhibitor19515843

    3 Novoseek inferred chemical compound relationships for AKR1D1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11beta-hydroxysteroid 62.4 3 8291900 (2), 12589943 (1)
    steroid 59.6 15 19028475 (2), 19515843 (2), 18407998 (2), 12589943 (1) (see all 5)
    progesterone 49.6 1 18407998 (1)

    Search CenterWatch for drugs/clinical trials and news about AKR1D1 / AK1D1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AKR1D1 gene (3 alternative transcripts): 
    NM_001190906.1  NM_001190907.1  NM_005989.3  

    Unigene Clusters for AKR1D1:

    Aldo-keto reductase family 1, member D1
    Hs.201667  [show with all ESTs], Hs.740214
    Unigene Representative Sequences: NM_005989, FM160743
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468877(uc011kqd.1 uc011kqc.1) ENST00000432161(uc011kqb.1)
    ENST00000411726(uc011kqf.2) ENST00000242375(uc003vtz.3 uc011kqe.1 uc010lmy.1)
    ENST00000438242 ENST00000470851
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKR1D1
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate AKR1D1 (see all 11):
    hsa-miR-18a hsa-miR-7-2* hsa-miR-520a-5p hsa-miR-373* hsa-miR-421 hsa-miR-10b* hsa-miR-4261 hsa-miR-525-5p
    SwitchGear 3'UTR luciferase reporter plasmidAKR1D1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AKR1D1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AKR1D1
    Clone
    Products:
         
    OriGene clones in human, mouse for AKR1D1 (see all 13)
    OriGene ORF clones in mouse, rat for AKR1D1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AKR1D1 (NM_005989)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AKR1D1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKR1D1
    Sirion Biotech Customized lentivirus for stable overexpression of AKR1D1 
                         Customized lentivirus expression plasmids for stable overexpression of AKR1D1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for AKR1D1
    OriGene qSTAR qPCR primer pairs in human, mouse for AKR1D1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AKR1D1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AKR1D1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AKR1D1

    Additional mRNA sequence: FM160743.1 

    3 DOTS entries:

    DT.407598  DT.92418473  DT.121073245 

    22 AceView cDNA sequences:

    AI191980 C21009 CB111926 NM_005989 AI652102 BG210362 AV649163 Z28339 
    CB120354 AK058142 AU099126 AV645816 AI033123 T68583 AI198697 T68663 
    CB162784 AV653393 AI656277 AV693448 AV689192 BU561106 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AKR1D1 expression in normal human tissues (normalized intensities)      AKR1D1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AKR1D1 Expression
    About this image


    AKR1D1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Thalamus
             brain/midbrain   
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             visceral organ   
     
     Neural Tube (Nervous System)
             Diencephalon

    See AKR1D1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKR1D1

    SOURCE GeneReport for Unigene clusters: Hs.201667 Hs.740214

    UniProtKB/Swiss-Prot: AK1D1_HUMAN, P51857
    Tissue specificity: Highly expressed in liver. Expressed in testis and weakly in colon

        SABiosciences Expression via Pathway-Focused PCR Array including AKR1D1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for AKR1D1
    OriGene qSTAR qPCR primer pairs in human, mouse for AKR1D1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AKR1D1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AKR1D1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AKR1D1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1D1

    (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 animals and fungi.

    Orthologs for AKR1D1 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akr1d11 , 5 aldo-keto reductase family 1, member D11, 5 83.08(n)1
    82.77(a)1
      6 (16.44 cM)5
    2086651  NM_145364.21  NP_663339.11 
     375301735 
    chicken
    (Gallus gallus)
    Aves AKR1D11 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) 75.46(n)
    81.6(a)
      418107  XM_416341.3  XP_416341.3 
    lizard
    (Anolis carolinensis)
    Reptilia AKR1D16
    --
    Uncharacterized protein
    78(a)
    32(a)
    1 ↔ 1
    possible ortholog
    5(15099545-15150713)
    AAWZ02039178(2232-9123)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC061932.12   -- 76.33(n)    BC061932.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:566226
    zgc:56622
    39(a)
    possible ortholog
    18(12660381-12669534)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60843 aldehyde reductase 49(a)
    (best of 6)
      68C15   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y39G8B.1a3   -- 42(a)
    (best of 10)
      II(13970799-13972831)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GRE3(YHR104W)4 Aldose reductase involved in methylglyoxal, d-xylose, more   --   8(323409-324392) 856504  NP_011972.1 


    ENSEMBL Gene Tree for AKR1D1 (if available)
    TreeFam Gene Tree for AKR1D1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKR1D1 gene
    AKR1C22  AKR1CL12  AKR1C32  AKR1B102  AKR1A12  AKR1C42  AKR1E22  AKR1B152  
    AKR1B12  AKR1C12  
    11 SIMAP similar genes for AKR1D1 using alignment to 5 protein entries:     AK1D1_HUMAN (see all proteins):
    AKR1C1    AKR1C3    AKR1C4    AKR1CL1    AKR1C2    AKR1B15
    AKR1B10    AKR1B1    AKR1A1    AKR1E2    LOC402299

    AKR1D1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AKR1D1
    PGOHUM00000245070


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1010 SNPs in AKR1D1 are shown (see all 1010)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0444314
    Congenital bile acid synthesis defect 2 (CBAS2)4--see VAR_0444312 R C mis40--------
    VAR_0330084
    Congenital bile acid synthesis defect 2 (CBAS2)4--see VAR_0330082 P L mis40--------
    VAR_0330074
    Congenital bile acid synthesis defect 2 (CBAS2)4--see VAR_0330072 L F mis40--------
    VAR_0444304
    Congenital bile acid synthesis defect 2 (CBAS2)4--see VAR_0444302 P R mis40--------
    rs2676066491,2
    Cpathogenic1141146109(+) ATACCC/GTAGAG 6 P R mis10--------
    rs1219183421,2
    Cpathogenic1141154943(+) CCATCC/TGTATT 6 P L mis10--------
    rs574351601,2
    C--137114237(+) TTTTT-/TT/TTT
            
    CTTTT
    6 -- int1 cds11NA 2
    rs3738394041,2
    C--137115020(+) TCTCA-/AA/AAA
            
    AAAAA
    6 -- int1 cds10--------
    rs361190431,2
    C--137117281(+) CAACA-/CTGTTTG 3 -- int10--------
    rs3767461011,2
    C--137121632(+) TCTCA-/A/AA  
            
    AAAAA
    3 -- int10--------

    HapMap Linkage Disequilibrium report for AKR1D1 (137687070 - 137803050 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for AKR1D1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735212CNV Deletion23290073
    esv2735213CNV Deletion23290073
    esv2658716CNV Deletion23128226
    esv2527075CNV Insertion19546169
    nsv437032CNV Loss16327808
    esv34048CNV Loss18971310
    nsv518070CNV Gain19592680
    esv33947CNV Gain17666407
    nsv831151CNV Gain+Loss17160897


    Human Gene Mutation Database (HGMD): AKR1D1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AKR1D1
    DNA2.0 Custom Variant and Variant Library Synthesis for AKR1D1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604741   
    OMIM disorders: 235555  
    UniProtKB/Swiss-Prot: AK1D1_HUMAN, P51857
  • Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]: A condition characterized by jaundice,
    intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of
    chenodeoxycholic acid and cholic acid in plasma and urine. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 12 diseases for AKR1D1:    About MalaCards
    bile acid synthesis defect, congenital, 2    congenital bile acid synthesis defect    carotid stenosis    congestive heart failure
    hepatitis    cholestasis    encephalitis    intrahepatic cholangiocarcinoma
    cholangiocarcinoma    liver disease    alcoholism    schizophrenia


    AKR1D1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AKR1D1
    Human Genome Epidemiology (HuGE) Navigator: AKR1D1 (3 documents)

    Export disorders for AKR1D1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AKR1D1 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with AKR1D1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of cDNA of human delta 4-3-oxosteroid 5 beta- reductase and substrate specificity of the expressed enzyme. (PubMed id 7508385)1, 2, 3 Kondo K.-H.... Bjoerkhem I. (1994)
    2. Crystal structure of human liver Delta4-3-ketosteroid 5beta-reductase (AKR1D1) and implications for substrate binding and catalysis. (PubMed id 18407998)1, 2, 9 Di Costanzo L....Christianson D.W. (2008)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    5. Genomic organization of a human 5beta-reductase and its pseudogene and substrate selectivity of the expressed enzyme. (PubMed id 11342103)1, 2 Charbonneau A. and The V.L. (2001)
    6. Assignment of steroid 5beta-reductase (SRD5B1) and its pseudogene (SRD5BP1) to human chromosome bands 7q32-->q33 and 1q23-->q25, respectively, by in situ hybridization. (PubMed id 10343119)1, 3 Charbonneau A. and Luu-The V. (1999)
    7. Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. (PubMed id 12970144)2, 9 Lemonde H.A.... Clayton P.T. (2003)
    8. Inhibition of human steroid 5beta-reductase (AKR1D1) by finasteride and structure of the enzyme-inhibitor complex. (PubMed id 19515843)7, 9 Drury J.E....Christianson D.W. (2009)
    9. SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. (PubMed id 15030995)2, 9 Gonzales E....Jacquemin E. (2004)
    10. Crystal structures of human Delta4-3-ketosteroid 5beta-reductase (AKR1D1) reveal the presence of an alternative binding site responsible for substrate inhibition. (PubMed id 19075558)1, 9 Faucher F....Breton R. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6718 HGNC: 388 AceView: AKR1D1 Ensembl:ENSG00000122787 euGenes: HUgn6718
    ECgene: AKR1D1 Kegg: 6718 H-InvDB: AKR1D1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AKR1D1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AKR1D1 gene:
    Search GeneIP for patents involving AKR1D1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for AKR1D1  
     OriGene qPCR primer pairs and template standards for AKR1D1   OriGene Protein Over-expression Lysate for AKR1D1  
     OriGene MassSpec something-or-other for AKR1D1   OriGene clones in human, mouse for AKR1D1  
     OriGene qSTAR qPCR primer pairs in human, mouse for AKR1D1   OriGene Purified Protein for AKR1D1  
     OriGene ORF clones in mouse, rat for AKR1D1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AKR1D1   OriGene Custom Protein Services for AKR1D1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AKR1D1
     QIAGEN SeqTarget long-range PCR primers for resequencing AKR1D1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKR1D1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AKR1D1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AKR1D1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AKR1D1
     GenScript Custom Purified and Recombinant Proteins Services for AKR1D1 GenScript cDNA clones with any tag delivered in your preferred vector for AKR1D1
     GenScript Custom Assay Services for AKR1D1 GenScript Custom Superior Antibodies Services for AKR1D1
     GenScript Custom overexpressing Cell Line Services for AKR1D1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in AKR1D1 promoter
     Search Chromatin IP Primers for AKR1D1
     RT2 qPCR Primer Assay in human, mouse, rat AKR1D1
     Search GNC Networks for AKR1D1
     SABiosciences PCR Arrays including human, mouse, rat AKR1D1
     Search Tocris compounds for AKR1D1 (AK1D1)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for AKR1D1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     AKR1D1 antibodies
     AKR1D1 proteins
     AKR1D1 lysates
     Antibodies for AKR1D1
     See all of Abcam's Antibodies, Kits and Proteins for AKR1D1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for AKR1D1




     Proteins for AKR1D1
     Antibodies for AKR1D1
     ELISAs for AKR1D1
     CLIAs for AKR1D1
     Search LifeMap BioReagents cell lines for AKR1D1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1D1
     SwitchGear 3'UTR luciferase reporter plasmids for AKR1D1
     SwitchGear Promoter luciferase reporter plasmids for AKR1D1
     ThermoFisher Antibodies for AKR1D1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKR1D1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for AKR1D1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AKR1D1
    Customized:
     lentivirus for stable overexpression of AKR1D1
     lentivirus expression plasmids for stable overexpression of AKR1D1
     adenovirus for overexpression of AKR1D1
     LSBio Antibodies in human, mouse, rat for AKR1D1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      AKR1D1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4