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

AKR1D1 Gene

protein-coding   GIFtS: 60
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)
 Explore 12 diseases affiliated with
AKR1D1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for AKR1D1    

Aliases
for AKR1D1 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 D11 2     3-Oxo-5-Beta-Steroid 4-Dehydrogenase2
SRD5B11 2 3 5     3o5bred2
Delta(4)-3-Ketosteroid 5-Beta-Reductase2 3     Delta 4-3-Ketosteroid-5-Beta-Reductase2
Delta(4)-3-Oxosteroid 5-Beta-Reductase2 3     Steroid-5-Beta-Reductase, Beta Polypeptide 1 (3-Oxo-5 Beta-Steroid Delta
4-Dehydrogenase Beta 1)2
CBAS22 5     EC 1.3.1.33
Aldo-Keto Reductase Family 1, Member D1 (Delta
4-3-Ketosteroid-5-Beta-Reductase)1
     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


Summaries
for AKR1D1 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 AKR1D1:
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)

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




Genomic Views
for AKR1D1 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_000007.13  NC_018918.1  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     

Proteins
for AKR1D1 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51857

    • AKR1D1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    ProSpec Recombinant Protein for AKR1D1
    Uscn 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



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    Uscn ELISAs and CLIAs for AKR1D1

    Protein Domains /
    Families
    for AKR1D1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AKR1D1 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 P51857

    ProtoNet protein and cluster: P51857

    1 Blocks protein family: IPB001395 Aldo/keto reductase

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


    Function
    for AKR1D1 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: 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

    miRNA
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    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 plasmid: AKR1D1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005496steroid binding TAS7508385
    GO:00475683-oxo-5-beta-steroid 4-dehydrogenase activity ----
    GO:0047787delta4-3-oxosteroid 5beta-reductase activity IEA--


    AKR1D1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for AKR1D1 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  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
    		Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.53
    		Primary bile acid biosynthesis0.84
    		bile acid biosynthesis, neutral pathway0.52
    		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.79
    		Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.37
    		Bile acid and bile salt metabolism0.70
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Steroid hormone biosynthesis
    		Steroid hormone biosynthesis1.00
    4Biological oxidations
    		metapathway biotransformation0.41

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for AKR1D1 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

    AKR1D1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AKR1D1

    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 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 

    Transcripts
    for AKR1D1 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 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

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    Inhib. RNA
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    Additional cDNA sequence: FM160743.1 

    3 DOTS entries:

    DT.407598  DT.92418473  DT.121073245 

    22 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for AKR1D1 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

    AKR1D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    AKR1D1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
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    Orthologs
    for AKR1D1 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 AKR1D1 gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    --
    		 --
    		 80(a)
    33(a)
    		 1 ↔ 1
    possible ortholog
    		 5(15132268-15150713)
    AAWZ02039178(2232-9058)
    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   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G212606
    AT2G212506
    		 aldose-6-phosphate reductase (NADPH2)
    NAD(P)-linked oxidoreductase domain-containing pro...
    		 38(a)
    37(a)
    		 many ↔ many
    many ↔ many
    		 2(9105583-9107380)
    2(9103181-9105187)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 oxidoreductase, aldo/keto reductase family protein...
    		 31(a)
    		 1 → many
    		 2(1227308-1230217)


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

    Paralogs
    for AKR1D1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKR1D1 gene
    AKR1C22  AKR1C32  AKR1CL12  AKR1B102  AKR1A12  AKR1E22  AKR1C42  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


    Genomic Variants
    for AKR1D1 gene

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

    10/850 NCBI SNPs in AKR1D1 are shown (see all 850)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219183421,2
    		Cpathogenic137136573(+) CCATCC/TGTATT 6 P L mis10--------
    rs679358381,2
    		C--132078196(+) TTCCTT/-TTTTT 3 -- int11Minor allele frequency- -:0.00NA 2
    rs102310781,2
    		C,F,H,--137104464(+) agaggG/Ccacat 3 -- us2k15Minor allele frequency- C:0.02NS EA WA 538
    rs737322341,2
    		C,F,--137104804(+) ATGAAT/CGGATC 3 -- us2k13Minor allele frequency- C:0.09WA CSA 122
    rs763459621,2
    		--137105080(+) TTTGTA/GATGGA 3 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1152169991,2
    		C,F,--137105569(+) GAAATT/CGGTCC 3 -- us2k11Minor allele frequency- C:0.05WA 118
    rs744090611,2
    		--137105646(+) AGATCC/TCTTTC 3 -- us2k11Minor allele frequency- T:0.01NA 120
    rs734494811,2
    		C,--137105793(+) TGTGTG/ATTAGT 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1146897741,2
    		C,F,--137106123(+) GAGATT/CTGGTT 3 -- us2k11Minor allele frequency- C:0.03WA 118
    rs77798651,2
    		A,H--137106266(+) GGTTAC/TGTTTT 3 -- us2k14Minor allele frequency- T:0.00NS EA 418

    HapMap Linkage Disequilibrium report for AKR1D1 (137687070 - 137803050 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for AKR1D1
         4 CNVs: 47950 100140 7605 1436
    Human Gene Mutation Database (HGMD): AKR1D1

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    Disorders / Diseases
    for AKR1D1 gene

    (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.)
    About This Section
    AKR1D1 for disorders           About GeneDecksing

    OMIM gene information: 604741   
    OMIM disorders: 235555  
    UniProtKB/Swiss-Prot: AK1D1_HUMAN, P51857
  • Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]; also
    • known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show
    absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine

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

    Human Genome Epidemiology (HuGE) Navigator: AKR1D1 (3 documents)

    Export disorders for AKR1D1 gene to outside databases

    Publications
    for AKR1D1 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 AKR1D1 gene, integrated from 9 sources (see all 34):
    (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. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 5 Beta-dihydroprogesterone and steroid 5 beta-reductase decrease in association with human parturition at term. (PubMed id 16123077)1, 9 Sheehan P.M....Brennecke S.P. (2005)

    External Searches for AKR1D1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    Genome Databases showing AKR1D1 gene

    (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

    Other Databases showing AKR1D1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AKR1D1 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 AKR1D1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for AKR1D1 gene

    (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:
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