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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   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 Chromatin IP Primers for AKR1D1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AK1D1_HUMAN, P51857 (See protein sequence)
Recommended Name: 3-oxo-5-beta-steroid 4-dehydrogenase  
Size: 326 amino acids; 37377 Da
Selected 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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AKR1D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000389197   ENSP00000402374   ENSP00000242375   ENSP00000397042  
    Reactome Protein details: P51857

    AKR1D1 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 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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 

         1 MGI phenotypic allele for Akr1d1 (no phenotypes)

    AKR1D1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Akr1d1tm1(KOMP)Vlcg for AKR1D1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AKR1D1
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       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
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    miRTarBase miRNAs that target AKR1D1:
    hsa-mir-1 (MIRT024083)

    Block miRNA regulation of human, mouse, rat AKR1D1 using miScript Target Protectors
    Selected qRT-PCR 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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1D1


    (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
    AK1D1_HUMAN, P51857: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    cytoskeleton2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    AKR1D1 for ontologies           About GeneDecksing


    (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 AKR1D1 About    
    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
    bile acid biosynthesis, neutral pathway0.48
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Biological oxidations
    metapathway biotransformation0.42
    4Steroid hormone biosynthesis
    Steroid hormone biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    3 Reactome Pathways for AKR1D1
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol


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


    AKR1D1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including AKR1D1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AKR1D1

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

    Selected Interacting proteins for AKR1D1 (ENSP000002423754) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    CYP11B2ENSP000003258224STRING: ENSP00000325822
    CYP17A1ENSP000003589034STRING: ENSP00000358903
    CYP19A1ENSP000002604334STRING: ENSP00000260433
    CYP8B1ENSP000003188674STRING: ENSP00000318867
    About this table

    Gene Ontology (GO): Selected biological process terms (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, 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 AKR1D1 (AK1D1)

    Selected 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)



    AKR1D1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AKR1D1 gene (3 alternative transcripts): 
    NM_001190906.1  NM_001190907.1  NM_005989.3  

    Unigene Cluster for AKR1D1:

    Aldo-keto reductase family 1, member D1
    Hs.201667  [show with all ESTs]
    Unigene Representative Sequence: NM_005989
    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
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      QuantiTect SYBR Green Assays in human, mouse, rat AKR1D1
      QuantiFast Probe-based Assays in human, mouse, rat AKR1D1

    Additional mRNA sequence: 

    AK289425.1 AK298421.1 AK298428.1 BC130625.1 BC130627.1 FM160741.1 FM160742.1 Z28339.1 

    3 DOTS entries:

    DT.407598  DT.92418473  DT.121073245 

    22 AceView cDNA sequences:

    C21009 AI191980 CB111926 BG210362 AI652102 NM_005989 CB120354 AK058142 
    Z28339 AV649163 T68663 AI033123 AV645816 T68583 AU099126 AI198697 
    AI656277 AV653393 CB162784 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™, 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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    AKR1D1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Hepatocyte-like cells
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Diencephalon
     
     Brain (Nervous System)
             Thalamus
     
     Testis (Reproductive System)
    AKR1D1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKR1D1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.201667

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

        Pathway & Disease-focused RT2 Profiler PCR Array including AKR1D1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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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 animals and fungi.

    Orthologs for AKR1D1 gene from Selected species (see all 17)    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  NM_001277393.1  NP_001264322.1 
    lizard
    (Anolis carolinensis)
    Reptilia AKR1D16
    aldo-keto reductase family 1, member D1
    78(a)
    1 ↔ 1
    5(15099545-15150713)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC061932.12   -- 76.33(n)    BC061932.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:566226
    zgc:56622
    39(a)
    many ↔ many
    18(12660381-12669534) ENSDARG00000031014
    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)
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    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    AKR1C2    AKR1CL1    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), 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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    Selected SNPs for AKR1D1 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 14 diseases for AKR1D1:    
    About MalaCards
    bile acid synthesis defect, congenital, 2    congenital bile acid synthesis defect    carotid stenosis    congestive heart failure
    hepatitis    cholestasis    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    encephalitis    liver disease    bipolar disorder    schizophrenia
    multiple myeloma    myeloma


    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)
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    PubMed articles for AKR1D1 gene, integrated from 10 sources (see all 38):
    (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. (Eur. J. Biochem. 1994)
    2. Inhibition of human steroid 5beta-reductase (AKR1D1) by finasteride and structure of the enzyme-inhibitor complex. (PubMed id 19515843)2, 7, 9 Drury J.E....Christianson D.W. (J. Biol. Chem. 2009)
    3. Crystal structure of human liver delta(4)-3-ketosteroid 5beta- reductase (AKR1D1) and implications for substrate binding and catalysis. (PubMed id 18407998)1, 2, 9 Di Costanzo L.... Christianson D.W. (J. Biol. Chem. 2008)
    4. 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, 2, 9 Faucher F....Breton R. (Biochemistry 2008)
    5. Conversion of human steroid 5I^-reductase (AKR1D1) into 3I^-hydroxysteroid dehydrogenase by single point mutation E120H: example of perfect enzyme engineering. (PubMed id 22437839)1, 2 Chen M....Penning T.M. (J. Biol. Chem. 2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Structure and catalytic mechanism of human steroid 5beta-reductase (AKR1D1). (PubMed id 18848863)1, 2 Di Costanzo L....Penning T.M. (Mol. Cell. Endocrinol. 2009)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    9. 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. (Biochim. Biophys. Acta 2001)
    10. Assignment of steroid 5beta-reductase (SRD5B1) and its pseudogene (SRD5BP1) to human chromosome bands 7q32--&gt;q33 and 1q23--&gt;q25, respectively, by in situ hybridization. (PubMed id 10343119)1, 3 Charbonneau A. and Luu-The V. (Cytogenet. Cell Genet. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6718 HGNC: 388 AceView: AKR1D1 Ensembl:ENSG00000122787 euGenes: HUgn6718
    ECgene: AKR1D1 Kegg: 6718 H-InvDB: AKR1D1

    (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 AKR1D1 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 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



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