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

AKR1B1 Gene

protein-coding   GIFtS: 75
GCID: GC07M134127

Aldo-Keto Reductase Family 1, Member B1 (Aldose Reductase)


(Previous symbol: ALDR1)
Alzheimer's & Parkinson's Diseases Congress
  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 B1 (Aldose Reductase)1 2     Aldehyde Reductase 12
ALDR11 2 3 5     Aldose Reductase2
Aldo-Keto Reductase Family 1 Member B12 3     Lii5-2 CTCL Tumor Antigen2
AR2 3     Low Km Aldose Reductase2
EC 1.1.1.213 8     Aldehyde Reductase3
ADR2     EC 1.1.18
ALR22     

External Ids:    HGNC: 3811   Entrez Gene: 2312   Ensembl: ENSG000000856627   OMIM: 1038805   UniProtKB: P151213   

Export aliases for AKR1B1 gene to outside databases

Previous GC identifers: GC07M132469 GC07M133529 GC07M133543 GC07M133346 GC07M133584 GC07M133778 GC07M128428


(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 AKR1B1 Gene:
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes
and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of
glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of
glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the
HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that
used by the Mouse Genome Informatics database. (provided by RefSeq, Feb 2009)

GeneCards Summary for AKR1B1 Gene: 
AKR1B1 (aldo-keto reductase family 1, member B1 (aldose reductase)) is a protein-coding gene. Diseases associated with AKR1B1 include diabetic neuropathy, and hyperglycemia, and among its related super-pathways are Metabolic pathways and Cyclophosphamide Pathway, Pharmacodynamics. GO annotations related to this gene include electron carrier activity and alditol:NADP+ 1-oxidoreductase activity. An important paralog of this gene is AKR1C2.

UniProtKB/Swiss-Prot: ALDR_HUMAN, P15121
Function: Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their
corresponding alcohols with a broad range of catalytic efficiencies

summary for AKR1B1 Gene:
Aldose reductase (also known as aldehyde reductase) catalyzes the reduction of a wide variety of hydrophobic
and hydrophilic carbonyl-containing compounds to their corresponding alcohols. This enzyme is cytosolic,
exists as a monomer and requires NADPH as a co-factor. Aldose reductase catalyzes the rate-limiting step of
the polyol pathway (the conversion of glucose to sorbitol), a pathway that is overactive in diabetes
mellitus and the cause of diabetic complications. Aldose reductase is expressed in most mammalian tissues
and is found at high concentrations in the seminal vesicles, lens, retina, renal medulla and sciatic nerve.
Currently there is much interest in the development of pharmalogical inhibitors targeting this enzyme as a
method of preventing the complications associated with chronic hyperglycemia.

Gene Wiki entry for AKR1B1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKR1B1 gene promoter:
         GR   AP-1   ATF-2   GR-beta   STAT5A   c-Jun   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKR1B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKR1B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKR1B1


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

Entrez Gene cytogenetic band: 7q35   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q35

AKR1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR1B1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M134127:  view genomic region     (about GC identifiers)

Start:
134,127,102 bp from pter      End:
134,144,036 bp from pter
Size:
16,935 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 133,471,421-133,488,201     

(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: ALDR_HUMAN, P15121 (See protein sequence)
Recommended Name: Aldose reductase  
Size: 316 amino acids; 35853 Da
Subunit: Monomer
Subcellular location: Cytoplasm
6/111 PDB 3D structures from and Proteopedia for AKR1B1 (see all 111):
1ABN (3D)        1ADS (3D)        1AZ1 (3D)        1AZ2 (3D)        1EF3 (3D)        1EL3 (3D)    
Secondary accessions: B2R8N3 Q5U031 Q6FGA4 Q6ICP2 Q9BS21 Q9UCI9

Explore the universe of human proteins at neXtProt for AKR1B1: NX_P15121

Explore proteomics data for AKR1B1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15121

  • 4/13 DME Specific Peptides for AKR1B1 (P15121) (see all 13)
     IPKSVTP  GLGTWKS  DLKLDYLD  LFIVSKLW 

    AKR1B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKR1B1 Protein Expression
    REFSEQ proteins: NP_001619.1  
    ENSEMBL proteins: 
     ENSP00000285930   ENSP00000414399   ENSP00000413205  
    Reactome Protein details: P15121
    Human Recombinant Protein Products for AKR1B1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for AKR1B1
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    Novus Biologicals AKR1B1 Proteins
    Novus Biologicals AKR1B1 Lysates
    Sino Biological Recombinant Protein for AKR1B1
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for AKR1B1
    Cloud-Clone Corp. Proteins for AKR1B1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS2112546
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    AKR1B1 for ontologies           About GeneDecksing



    AKR1B1 Antibody Products: 
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    (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 P15121

    ProtoNet protein and cluster: P15121

    1 Blocks protein domain: IPB001395 Aldo/keto reductase

    UniProtKB/Swiss-Prot: ALDR_HUMAN, P15121
    Similarity: Belongs to the aldo/keto reductase family


    AKR1B1 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: ALDR_HUMAN, P15121
    Function: Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their
    corresponding alcohols with a broad range of catalytic efficiencies
    Catalytic activity: Alditol + NAD(P)(+) = aldose + NAD(P)H
    Enzyme regulation: Cys-299 may regulate the kinetic and inhibition properties of the enzyme, but does not
    participate in catalysis

         Genatlas biochemistry entry for AKR1B1:
    aldo-keto reductase family 1 member B1,monomeric NADPH dependent,widely expressed,at low levels in liver,cytosolic
    reducing aromatic and aliphatic aldehydes,with less activity than AKR1A1

         Enzyme Numbers (IUBMB): EC 1.1.1.211 2 EC 1.1.12

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004032alditol:NADP+ 1-oxidoreductase activity IEA--
    GO:0004033aldo-keto reductase (NADP) activity TAS8435445
    GO:0009055electron carrier activity TAS2112546
    GO:0016491oxidoreductase activity ----
    GO:0043795glyceraldehyde oxidoreductase activity IDA--
         
    AKR1B1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AKR1B1:
     Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Akr1b3):
     behavior/neurological  growth/size  homeostasis/metabolism  mortality/aging  renal/urinary system 
     skeleton  vision/eye 

    AKR1B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AKR1B1: Akr1b3tm1Tona Akr1b3tm1Skc

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AKR1B1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AKR1B1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKR1B1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AKR1B1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target AKR1B1:
    hsa-mir-488 (MIRT003789)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKR1B1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate AKR1B1:
    hsa-miR-1304
    SwitchGear 3'UTR luciferase reporter plasmidAKR1B1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector: AKR1B1 (NM_001628)
    Sino Biological Human cDNA Clone for AKR1B1
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                         Customized lentivirus expression plasmids for stable overexpression of AKR1B1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1B1


    (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 AKR1B1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Ifosfamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics0.72
    Cyclophosphamide Pathway, Pharmacodynamics0.72
    3Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00
    4acetone degradation I (to methylglyoxal)
    acetone degradation I (to methylglyoxal)0.44
    methylglyoxal degradation III0.38
    5Glucuronidation
    Pentose and glucuronate interconversions0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AKR1B1
        Naphthalene metabolism


    1 GeneGo (Thomson Reuters) Pathway for AKR1B1
        Naphthalene metabolism

    4 BioSystems Pathways for AKR1B1
        Polyol pathway
    methylglyoxal degradation III
    acetone degradation I (to methylglyoxal)
    metapathway biotransformation


    5        Reactome Pathways for AKR1B1
        Metabolism of steroid hormones and vitamin D
    Metabolism
    Pregnenolone biosynthesis
    Steroid hormones
    Metabolism of lipids and lipoproteins

    2 PharmGKB Pathways for AKR1B1
        Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics

    5/6         Kegg Pathways  (Kegg details for AKR1B1) (see all 6):
        Pentose and glucuronate interconversions
    Fructose and mannose metabolism
    Galactose metabolism
    Glycerolipid metabolism
    Pyruvate metabolism


    AKR1B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKR1B1

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

    5/52 Interacting proteins for AKR1B1 (P151212, 3 ENSP000002859304) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD1Q157972, 3MINT-62012 I2D: score=3 
    PRMT2P553452, 3, ENSP000003479064MINT-8290942 MINT-8291016 I2D: score=1 STRING: ENSP00000347906
    PAX7P237593, ENSP000003645244I2D: score=1 STRING: ENSP00000364524
    DSTQ030013, ENSP000003597904I2D: score=1 STRING: ENSP00000359790
    DSPP159243, ENSP000003691294I2D: score=1 STRING: ENSP00000369129
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS2112546
    GO:0006700C21-steroid hormone biosynthetic process TAS--
    GO:0006950response to stress TAS8435445
    GO:0008202steroid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    AKR1B1 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

    AKR1B1 for compounds           About GeneDecksing

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

    Compounds for AKR1B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AlrestatinAldose reductase inhibitor[51411-04-2]
    EBPCAldose reductase inhibitor[4450-98-0]

    10/18 HMDB Compounds for AKR1B1 (see all 18)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-Propane-1,2-diol(2S)-propane-1,2-diol (see all 3)4254-15-3--
    Alpha-D-GlucoseHexopyranose (see all 11)492-62-6--
    D-Galactose(+)-Galactose (see all 14)59-23-4--
    D-Lactaldehyde(2R)-2-hydroxypropanal (see all 4)3946-09-6--
    D-XylitolD-Xylitol (see all 20)87-99-0--
    D-Xylosed-Xylose (see all 8)58-86-6--
    GalactitolDulcose (see all 13)608-66-2--
    Glyceraldehyde(+/-)-2,3-dihydroxy-Propanal (see all 24)56-82-6--
    Glycerol1,2,3-Trihydroxypropane (see all 22)56-81-5--
    L-ArabinoseArabinose (see all 3)5328-37-0--

    10/29 DrugBank Compounds for AKR1B1 (see all 29)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Sulindac-- 38194-50-2targetinhibitor8529171 3920599 6409111 2632448 11752352 6413448
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423 10592235
    Alrestatin-- 51411-04-2target--17139284 17016423 10592235
    IDD552-- --target--17139284 17016423 10592235
    Inhibitor Idd 384-- --target--17139284 17016423 10592235
    N-Acetylalanine-- 97-69-8target--17139284 17016423 10592235
    [3-(4-Bromo-2-Fluoro-Benzyl)-7-Chloro-2,4-Dioxo-3,4-Dihydro-2h-Quinazolin-1-Yl]-Acetic Acid-- --target--17139284 17016423 10592235
    Alpha-D-Glucose-6-Phosphate-- --target--17139284 17016423
    Citric Acid-- 77-92-9target--17139284 17016423
    Fidarestat(Stereoisomer)-- --target--17139284 17016423

    10/122 Novoseek inferred chemical compound relationships for AKR1B1 gene (see all 122)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aldose 99.5 2542 1901806 (10), 15736047 (10), 7748183 (9), 15746188 (9) (see all 99)
    tolrestat 95.8 56 2119323 (3), 12604217 (2), 9871575 (2), 9186297 (2) (see all 47)
    epalrestat 95.4 81 18644069 (3), 9681489 (2), 12200074 (2), 7585850 (2) (see all 48)
    sorbinil 95 67 2157439 (3), 2122961 (2), 1472112 (2), 1907924 (2) (see all 50)
    zopolrestat 92.6 32 17898287 (3), 7929871 (2), 15530506 (2), 10737739 (2) (see all 21)
    ponalrestat 92.4 50 10226565 (3), 1902410 (2), 1611835 (2), 10628361 (2) (see all 28)
    fidarestat 91.6 38 19594152 (4), 10882376 (4), 10706394 (3), 11359994 (3) (see all 18)
    ranirestat 91 14 19212096 (2), 18363521 (2), 17593238 (1), 16373898 (1) (see all 7)
    alrestatin 89.9 14 8003482 (2), 9405046 (2), 2157439 (2), 11461193 (1) (see all 7)
    mannitol 89.2 290 14583178 (6), 15967436 (5), 1901456 (4), 1936586 (4) (see all 99)

    Search CenterWatch for drugs/clinical trials and news about AKR1B1 / ALDR

    (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 AKR1B1 gene: 
    NM_001628.2  

    Unigene Cluster for AKR1B1:

    Aldo-keto reductase family 1, member B1 (aldose reductase)
    Hs.521212  [show with all ESTs]
    Unigene Representative Sequence: AB209796
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285930(uc003vrp.1) ENST00000434222 ENST00000465351 ENST00000467251
    ENST00000498771 ENST00000498373 ENST00000487438 ENST00000489022 ENST00000491741
    ENST00000497983 ENST00000484592 ENST00000467829 ENST00000426422 ENST00000462784


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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AKR1B1
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    Additional mRNA sequence: 

    AB209796.1 AF328729.1 AK311339.1 AK313439.1 BC000260.1 BC005387.1 BC010391.1 BT019859.1 
    CR450351.1 CR542203.1 J04795.1 J05017.1 J05474.1 M34720.1 X15414.1 

    24/50 DOTS entries (see all 50):

    DT.91938612  DT.100637594  DT.91911063  DT.95182901  DT.95182930  DT.448405  DT.121060998  DT.95197736 
    DT.100709235  DT.121061101  DT.121060563  DT.40259704  DT.92466151  DT.121060534  DT.121060712  DT.219759 
    DT.100851794  DT.95182925  DT.121061093  DT.95182906  DT.100674627  DT.100728479  DT.121060798  DT.121439753 

    24/899 AceView cDNA sequences (see all 899):

    CR609712 R01786 BQ687077 CR595528 R71262 CB106863 BM697976 CA444154 
    CR625913 CR602165 BE790316 BM667793 CD612231 CR617008 BM474788 BQ882165 
    BX280797 BG164977 BQ685959 AJ573453 R63321 BE795420 CR615638 CR597034 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for AKR1B1 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a ·
    SP1:                                                  -                       -     -                 -     -                                         -         
    SP2:                                                  -                       -     -                 -     -                                                   
    SP3:                                -     -     -     -                       -     -                 -     -                                                   
    SP4:                                                  -                       -     -                 -     -     -     -     -                       -         
    SP5:                                                  -                 -     -     -     -     -     -     -     -     -                             -         

    ExUns: 10b · 10c ^ 11 ^ 12a · 12b
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for AKR1B1

    (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

    AKR1B1 expression in normal human tissues (normalized intensities)      AKR1B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAGTTTTG
    AKR1B1 Expression
    About this image


    AKR1B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             Ureter
             visceral organ   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   

    See AKR1B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKR1B1

    SOURCE GeneReport for Unigene cluster: Hs.521212

    UniProtKB/Swiss-Prot: ALDR_HUMAN, P15121
    Tissue specificity: Highly expressed in embryonic epithelial cells (EUE) in response to osmotic stress

        SABiosciences Expression via Pathway-Focused PCR Arrays including AKR1B1: 
              Stress & Toxicity PathwayFinder in human mouse rat
              Osmotic Stress in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1B1

    (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 AKR1B1 gene from 8/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akr1b31 , 5 aldo-keto reductase family 1, member B3 (aldose reductase)1, 5 85.93(n)1
    85.71(a)1
      6 (14.87 cM)5
    116771  NM_009658.31  NP_033788.31 
     343039345 
    chicken
    (Gallus gallus)
    Aves AKR1B1L1 aldo-keto reductase family 1, member B1-like (aldose more 75.32(n)
    75.32(a)
      418171  NM_001243590.1  NP_001230519.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686092 hypothetical protein MGC68609 76.81(n)    BC060383.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.61422 Transcribed sequence with moderate similarity to protein more 77.16(n)    CK029623.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60841 , 3 aldehyde reductase3
    CG60841
    60(a)
    (best of 7)3
    62.75(n)1
    59.48(a)1
      68C153
    393041  NM_140227.11  NP_648484.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y39G8B.1a3
    CELE_Y39G8B.11
    Protein Y39G8B.11 47(a)
    (best of 10)3
    53.5(n)1
    47.77(a)1
      II(13970799-13972831)3
    1750471  NM_064524.21  NP_496925.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GRE31 Gre3p 48.19(n)
    44.9(a)
      856504   NP_011972.1 
    rice
    (Oryza sativa)
    Liliopsida NM_190596.12   -- 74.95(n)    NM_190596.1 


    ENSEMBL Gene Tree for AKR1B1 (if available)
    TreeFam Gene Tree for AKR1B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKR1B1 gene
    AKR1C22  AKR1CL12  AKR1C32  AKR1B102  AKR1A12  AKR1C42  AKR1E22  AKR1B152  
    AKR1D12  AKR1C12  
    11 SIMAP similar genes for AKR1B1 using alignment to 3 protein entries:     ALDR_HUMAN (see all proteins):
    AKR1B10    AKR1B15    AKR1C1    AKR1E2    AKR1C3    AKR1CL1
    AKR1C4    AKR1A1    AKR1C2    LOC402299    AKR1D1

    AKR1B1 for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for AKR1B1 (see all 9)
    PGOHUM00000242177 PGOHUM00000248391 PGOHUM00000247814 PGOHUM00000234983 PGOHUM00000234282


    (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

    10/520 SNPs in AKR1B1 are shown (see all 520)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1393908931,2
    --134126681(+) AACACC/TGACCT 1 -- ds50010--------
    rs1500570281,2
    --134126683(+) CACCGA/TCCTCG 1 -- ds50010--------
    rs1444056311,2
    --134126698(+) TCATAC/TGTAGA 1 -- ds50010--------
    rs737249571,2
    C,F--134126731(+) GAATCG/AAACAT 1 -- ds50012Minor allele frequency- A:0.04WA 120
    rs171678511,2
    C,F--134127061(+) TGAGAT/CAGAAG 1 -- ds50019Minor allele frequency- C:0.33NA WA 388
    rs1837870481,2
    C--134127205(+) TTTGAC/GCTGGT 1 -- ut310--------
    rs22295431,2
    C,F,O,A,H--134127355(-) GCCAGC/AGAGGG 1 -- ut31 ese312Minor allele frequency- A:0.10MN NA EA NS 930
    rs1862968541,2
    --134127382(+) GTCCCA/GCTGCT 1 -- ut310--------
    rs50551,2
    F--134127402(-) TAGTAT/GGGCCT 1 -- ut31 ese31Minor allele frequency- G:0.05MN 80
    rs2015934661,2
    --134127452(+) AGGTCA/GCTTGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for AKR1B1 (134127102 - 134144036 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AKR1B1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv889222CNV Gain21882294


    Human Gene Mutation Database (HGMD): AKR1B1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 103880    OMIM disorders: --

    20/64 diseases for AKR1B1 (see all 64):    About MalaCards
    diabetic neuropathy    hyperglycemia    diabetic cataract    diabetic polyneuropathy
    diabetic autonomic neuropathy    polyradiculopathy    autonomic neuropathy    diabetic macular edema
    polyneuropathy    corneal disease    type 1 diabetes mellitus    diabetes mellitus
    cataract-glaucoma    galactosemia    diabetic retinopathy    senile cataract
    gastroparesis    bladder transitional cell carcinoma    cholecystitis    type 1 diabetes

    10 diseases from the University of Copenhagen DISEASES database for AKR1B1:
    Diabetes mellitus     Diabetic cataract     Neuropathy     Diabetic retinopathy
    Hyperglycemia     Galactosemia     Hepatitis B     Autonomic neuropathy
    Blindness     Polyneuropathy

    AKR1B1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/67 Novoseek inferred disease relationships for AKR1B1 gene (see all 67)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetic neuropathies 89.1 89 2109678 (4), 18220710 (3), 9452821 (2), 11137177 (2) (see all 59)
    diabetic cataract 84 15 12871135 (2), 16639016 (2), 1907924 (1), 14751239 (1) (see all 10)
    hyperglycemia 75 47 15539002 (2), 7838591 (2), 19383984 (2), 1314495 (1) (see all 34)
    diabetic retinopathy 74.8 66 12446366 (5), 17548166 (3), 19587357 (3), 16545977 (3) (see all 37)
    retinopathy 72.8 27 8174849 (2), 12446366 (1), 8288059 (1), 15369682 (1) (see all 23)
    diabetic nephropathies 70 39 16620264 (4), 16631535 (2), 12408275 (1), 18325349 (1) (see all 24)
    microangiopathy diabetic 66.1 8 10898124 (2), 16911628 (1), 1841026 (1), 15999695 (1)
    diabetes mellitus 65.5 28 1902410 (1), 7839671 (1), 18451330 (1), 19373836 (1) (see all 25)
    sensorimotor polyneuropathy 65.5 3 15451902 (2), 16373898 (1)
    autonomic neuropathy 65.1 8 10369429 (2), 8482988 (1), 2125013 (1), 18220710 (1) (see all 5)

    Genetic Association Database (GAD): AKR1B1
    Human Genome Epidemiology (HuGE) Navigator: AKR1B1 (36 documents)

    Export disorders for AKR1B1 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 AKR1B1 gene, integrated from 9 sources (see all 866):
    (articles sorted by number of sources associating them with AKR1B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians. (PubMed id 16620264)1, 4, 9 Wolford J.K....Hanson R.L. (2006)
    2. Aldose reductase is involved in long-term adaptation of EUE cells to hyperosmotic stress. (PubMed id 8435445)1, 2, 9 Ferraretto A....Ronchi S. (1993)
    3. Cloning and expression of human aldose reductase. (PubMed id 2112546)1, 2, 9 Nishimura C.... Flynn T.G. (1990)
    4. Cloning and prokaryotic expression of a biologically active human placental aldose reductase. (PubMed id 2111143)1, 2, 9 Grundmann U.... Amann E. (1990)
    5. Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 a nd PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indian s with type-2 diabetes. (PubMed id 20353610)1, 4, 9 Prasad P....Thelma B.K. (2010)
    6. The alrestatin double-decker: binding of two inhibitor molecules to human aldose reductase reveals a new specificity determinant. (PubMed id 9405046)1, 2, 9 Harrison D.H.... Gabbay K.H. (1997)
    7. The -106CC genotype of the aldose reductase gene is associated with an increased risk of proliferative diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes. (PubMed id 16545977)1, 4, 9 dos Santos K.G....Roisenberg I. (2006)
    8. Aldose reductase gene is associated with diabetic macroangiopathy in Japanese Type 2 diabetic patients. (PubMed id 16911628)1, 4, 9 Watarai A....Nakamura J. (2006)
    9. C(-106)T polymorphism of the aldose reductase gene and the progression rate of diabetic retinopathy. (PubMed id 16701918)1, 4, 9 Olmos P....Castro J. (2006)
    10. [Association study between diabetic retinopathy and aldose reductase gene polymorphism in Tunisians] (PubMed id 15973199)1, 4, 9 Zghal-Mokni I....Abdelhak S. (2005)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 231 HGNC: 381 AceView: AKR1B1 Ensembl:ENSG00000085662 euGenes: HUgn231
    ECgene: AKR1B1 Kegg: 231 H-InvDB: AKR1B1

    (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 AKR1B1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AKR1B1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AKR1B1 gene:
    Search GeneIP for patents involving AKR1B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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