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AKR1A1 Gene

protein-coding   GIFtS: 70
GCID: GC01P046017

Aldo-Keto Reductase Family 1, Member A1 (Aldehyde Reductase)

  See AKR1A1-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 A1 (Aldehyde Reductase)1 2     DD32
ALR2 3 5     HEL-S-165mP2
Dihydrodiol Dehydrogenase 31 2     HEL-S-62
Aldehyde Reductase2 3     Alcohol Dehydrogenase2
Aldo-Keto Reductase Family 1 Member A12 3     Alcohol Dehydrogenase [NADP(+)]2
ALDR12 3     Epididymis Secretory Protein Li 62
EC 1.1.1.23 8     Epididymis Secretory Sperm Binding Protein Li 165mP2
ARM2     EC 1.1.18

External Ids:    HGNC: 3801   Entrez Gene: 103272   Ensembl: ENSG000001174487   OMIM: 1038305   UniProtKB: P145503   

Export aliases for AKR1A1 gene to outside databases

Previous GC identifers: GC01P045743 GC01P045016 GC01P045446 GC01P045429 GC01P045685 GC01P045789 GC01P044128


(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 AKR1A1 Gene:
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes
and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and
xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants
of this gene exist, all encoding the same protein. (provided by RefSeq, Jan 2011)

GeneCards Summary for AKR1A1 Gene:
AKR1A1 (aldo-keto reductase family 1, member A1 (aldehyde reductase)) is a protein-coding gene. Diseases associated with AKR1A1 include ethylene glycol poisoning, and methanol poisoning. GO annotations related to this gene include electron carrier activity and L-glucuronate reductase activity. An important paralog of this gene is AKR1C2.

UniProtKB/Swiss-Prot: AK1A1_HUMAN, P14550
Function: Catalyzes the NADPH-dependent reduction of a variety of aromatic and aliphatic aldehydes to their
corresponding alcohols. Catalyzes the reduction of mevaldate to mevalonic acid and of glyceraldehyde to glycerol.
Has broad substrate specificity. In vitro substrates include succinic semialdehyde, 4-nitrobenzaldehyde,
1,2-naphthoquinone, methylglyoxal, and D-glucuronic acid. Plays a role in the activation of procarcinogens, such
as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs,
including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN)

Gene Wiki entry for AKR1A1 (Aldo-keto reductase family 1, member A1) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the AKR1A1 gene promoter:
         Max   C/EBPbeta   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKR1A1 promoter sequence
   Search Chromatin IP Primers for AKR1A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKR1A1


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

Entrez Gene cytogenetic band: 1p33-p32   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p33-p32

AKR1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR1A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P046017:  view genomic region     (about GC identifiers)

Start:
46,016,215 bp from pter      End:
46,035,723 bp from pter
Size:
19,509 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: AK1A1_HUMAN, P14550 (See protein sequence)
Recommended Name: Alcohol dehydrogenase [NADP(+)]  
Size: 325 amino acids; 36573 Da
Subunit: Monomer (By similarity)
1 PDB 3D structure from and Proteopedia for AKR1A1:
2ALR (3D)    
Secondary accessions: A8KAL8 D3DQ04 Q6IAZ4

Explore the universe of human proteins at neXtProt for AKR1A1: NX_P14550

Explore proteomics data for AKR1A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys153
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AKR1A1 (P14550) (see all 10)
     AAIYGNE  GLGTWKS  GYRHIDCA  MPLIGLGT 


    See AKR1A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001189343.1  NP_006057.1  NP_697021.1  NP_001189342.1  

    ENSEMBL proteins: 
     ENSP00000361140   ENSP00000398414   ENSP00000476978   ENSP00000312606   ENSP00000476713  

    AKR1A1 Human Recombinant Protein Products:

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    Novus Biologicals AKR1A1 Lysates
    Sino Biological Recombinant Protein for AKR1A1
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    Cloud-Clone Corp. Proteins for AKR1A1

     
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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 P14550

    ProtoNet protein and cluster: P14550

    1 Blocks protein domain: IPB001395 Aldo/keto reductase

    UniProtKB/Swiss-Prot: AK1A1_HUMAN, P14550
    Similarity: Belongs to the aldo/keto reductase family


    Find genes that share domains with AKR1A1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AK1A1_HUMAN, P14550
    Function: Catalyzes the NADPH-dependent reduction of a variety of aromatic and aliphatic aldehydes to their
    corresponding alcohols. Catalyzes the reduction of mevaldate to mevalonic acid and of glyceraldehyde to glycerol.
    Has broad substrate specificity. In vitro substrates include succinic semialdehyde, 4-nitrobenzaldehyde,
    1,2-naphthoquinone, methylglyoxal, and D-glucuronic acid. Plays a role in the activation of procarcinogens, such
    as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs,
    including the anthracyclines doxorubicin (DOX) and daunorubicin (DAUN)
    Catalytic activity: An alcohol + NADP(+) = an aldehyde + NADPH

         Genatlas biochemistry entry for AKR1A1:
    aldehyde reductase 1,monomeric NADPH dependent,expressed in many organs predominantly in
    kidney,cortex,liver,thyroid,small intestine,cytosolic reducing various biogenic and xenobiotic aldehyde
    compounds,with two alternatively spliced transcripts encoding the same protein

         Enzyme Numbers (IUBMB): EC 1.1.1.21 2 EC 1.1.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004032alditol:NADP+ 1-oxidoreductase activity TAS2498333
    GO:0009055electron carrier activity TAS2498333
    GO:0047939L-glucuronate reductase activity IEA--
         
    Find genes that share ontologies with AKR1A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for AKR1A1:
     Synthetic lethal with Ras 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Akr1a1):
     cellular  craniofacial  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  renal/urinary system  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with AKR1A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Akr1a1tm1Maka for AKR1A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AKR1A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKR1A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AKR1A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AKR1A1:
    hsa-let-7b-5p (MIRT032282), hsa-mir-34a-5p (MIRT025351), hsa-mir-186-5p (MIRT045288)

    Block miRNA regulation of human, mouse, rat AKR1A1 using miScript Target Protectors
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKR1A1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    plasma membrane2
    cytoskeleton1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005829cytosol IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with AKR1A1           About GenesLikeMe


    (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 AKR1A1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1tryptophan utilization II
    tryptophan utilization I0.71
    tryptophan degradation X (mammalian, via tryptamine)0.00
    2Biological oxidations
    metapathway biotransformation0.42
    Benzo(a)pyrene metabolism0.00
    3Cyclophosphamide Pathway, Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics
    Ifosfamide Pathway, Pharmacodynamics0.00
    4Glycolysis and gluconeogenesis short map
    Glycolysis / Gluconeogenesis0.46
    5Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics0.43


    Find genes that share SuperPaths with AKR1A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for AKR1A1
        Naphthalene metabolism
    Prostaglandin 2 biosynthesis and metabolism FM

    4 BioSystems Pathways for AKR1A1
        Benzo(a)pyrene metabolism
    tryptophan degradation X (mammalian, via tryptamine)
    metapathway biotransformation
    tryptophan utilization I


    4 PharmGKB Pathways for AKR1A1
        Cyclophosphamide Pathway, Pharmacodynamics
    Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    Doxorubicin Pathway, Pharmacokinetics
    Ifosfamide Pathway, Pharmacodynamics

    4 Kegg Pathways  (Kegg details for AKR1A1):
        Glycolysis / Gluconeogenesis
    Glycerolipid metabolism
    Metabolic pathways
    Degradation of aromatic compounds

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKR1A1
    Interactions:

        GeneGlobe Interaction Network for AKR1A1

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

    Selected Interacting proteins for AKR1A1 (P145503 ENSP000003126064) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF5AP632413, ENSP000003367024I2D: score=1 STRING: ENSP00000336702
    EXOSC4Q9NPD33, ENSP000003154764I2D: score=4 STRING: ENSP00000315476
    URB1O602873, ENSP000003721994I2D: score=1 STRING: ENSP00000372199
    MDH2P409263, ENSP000003270704I2D: score=1 STRING: ENSP00000327070
    ISYNA1Q9NPH23I2D: score=4 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process TAS2498333
    GO:0006081cellular aldehyde metabolic process TAS2498333
    GO:0019853L-ascorbic acid biosynthetic process IEA--
    GO:0042840D-glucuronate catabolic process IEA--
    GO:0046185aldehyde catabolic process IEA--

    Find genes that share ontologies with AKR1A1           About GenesLikeMe



    (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 AKR1A1 (AK1A1)

    Selected HMDB Compounds for AKR1A1 (see all 17)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    6-Hydroxyhexanoic acid6-Hydroxyhexanoate (see all 2)1191-25-9--
    Acetaldehydeacetaldehyde (see all 5)75-07-0--
    Adipate semialdehydeHexan-1-one-6-carboxylate (see all 3)928-81-4--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Glyceraldehyde(+/-)-2,3-dihydroxy-Propanal (see all 24)56-82-6--
    Glycerol1,2,3-Trihydroxypropane (see all 22)56-81-5--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--

    5 DrugBank Compounds for AKR1A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--10592235
    DoxorubicinAdria (see all 4)23214-92-8enzymesubstrate18635746
    NADHbeta-DPNH (see all 18)606-68-8enzymesubstrate19583966
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--10592235
    Tolrestat-- 82964-04-3target--10592235

    Selected Novoseek inferred chemical compound relationships for AKR1A1 gene (see all 129)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4-methylpyrazole 93.9 79 8865952 (2), 11762672 (2), 2282461 (1), 2099148 (1) (see all 52)
    acetaldehyde 91.9 128 8892513 (4), 17590984 (2), 9795248 (2), 8541036 (2) (see all 99)
    m-nitrobenzaldehyde 91.1 1 11329488 (1)
    ethanol 87.6 347 14718645 (5), 8244116 (4), 11586401 (3), 2041490 (2) (see all 99)
    nad+ 82.1 53 2099148 (1), 9529900 (1), 12827287 (1), 15720144 (1) (see all 47)
    p-nitrosodimethylaniline 81.4 1 9581470 (1)
    nadh 78.1 52 9432004 (2), 9516661 (1), 15808017 (1), 17015264 (1) (see all 43)
    n-benzylformamide 74.3 2 15449945 (1)
    ethylene glycol 71.2 32 11434452 (3), 8865952 (2), 11099610 (2), 9806434 (2) (see all 22)
    pyrazole 70.3 9 1993997 (1), 1590543 (1), 7847607 (1), 7646056 (1) (see all 8)



    Find genes that share compounds with AKR1A1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AKR1A1 gene (4 alternative transcripts): 
    NM_001202414.1  NM_006066.3  NM_153326.2  NM_001202413.1  

    Unigene Cluster for AKR1A1:

    Aldo-keto reductase family 1, member A1 (aldehyde reductase)
    Hs.474584  [show with all ESTs]
    Unigene Representative Sequence: NM_006066
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372070(uc021omx.1 uc021omy.1 uc001cod.3 uc001coe.3)
    ENST00000434299 ENST00000496999 ENST00000476957 ENST00000481885 ENST00000351829
    ENST00000471651(uc009vxw.3) ENST00000497973 ENST00000473038(uc001cof.3)
    ENST00000495913 ENST00000487654 ENST00000475919 ENST00000475985
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      QuantiTect SYBR Green Assays in human, mouse, rat AKR1A1
      QuantiFast Probe-based Assays in human, mouse, rat AKR1A1

    Additional mRNA sequence: 

    AK293083.1 AK307068.1 AK307237.1 AK307288.1 AK311175.1 BC000670.2 BC005394.1 BC033287.1 
    BT007003.1 CR457010.1 J04794.1 

    Selected DOTS entries (see all 31):

    DT.452914  DT.97860403  DT.100876856  DT.100876857  DT.100876880  DT.100876862  DT.100876859  DT.100876873 
    DT.95265907  DT.100876884  DT.102832770  DT.219220  DT.121387658  DT.92457246  DT.100876869  DT.121387644 
    DT.65287039  DT.95265894  DT.97860404  DT.100876864  DT.100876867  DT.102832769  DT.121387645  DT.121387650 

    Selected AceView cDNA sequences (see all 653):

    CR616472 AI287528 BQ057927 BM786895 BQ377365 AA617946 BE389733 BQ181727 
    BQ426013 BM887841 BG230714 CR607253 BM794951 CB242230 AI361095 AL525486 
    CB146263 BE513275 BI870205 CR613190 CD723863 BM781566 CA308232 NM_153326 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AKR1A1 (see all 19)    About this scheme

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

    ExUns: 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11
    SP1:                          -               
    SP2:                          -               
    SP3:  -     -     -           -               
    SP4:  -     -     -           -               
    SP5:                                          


    ECgene alternative splicing isoforms for AKR1A1

    (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)
    About This Section

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    AKR1A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGTGATCCT
    AKR1A1 Expression
    About this image


    AKR1A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Lens
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Colon (Gastrointestinal Tract)
    AKR1A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKR1A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474584

    UniProtKB/Swiss-Prot: AK1A1_HUMAN, P14550
    Tissue specificity: Widely expressed. Highly expressed in kidney, salivary gland and liver. Detected in trachea,
    stomach, brain, lung, prostate, placenta, mammary gland, small intestine and lung

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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 eukaryotes.

    Orthologs for AKR1A1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akr1a11 , 5 aldo-keto reductase family 1, member A1 (aldehyde reductase)1, 5 87.79(n)1
    93.23(a)1
      4 (53.26 cM)5
    588101  NM_021473.31  NP_067448.11 
     1166365105 
    chicken
    (Gallus gallus)
    Aves AKR1A11 aldo-keto reductase family 1, member A1 (aldehyde reductase) 71.79(n)
    78.46(a)
      424599  NM_001006539.2  NP_001006539.1 
    lizard
    (Anolis carolinensis)
    Reptilia AKR1A16
    aldo-keto reductase family 1, member A1 (aldehyde ...
    68(a)
    1 ↔ 1
    AAWZ02036488(4841-25880)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.101702 Xenopus laevis transcribed sequence with moderate similarity more 74.45(n)    CF520439.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.131322 Transcribed sequence with weak similarity to protein more 74.99(n)    CK237455.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG60843 aldehyde reductase 49(a)
    (best of 6)
      68C15   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y39G8B.1a3   -- 45(a)
    (best of 11)
      II(13970799-13972831)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCY1(YOR120W)4 Putative NADP(+) coupled glycerol dehydrogenase, proposed more   --   15(551114-552052) 854287  NP_014763.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G377601 AT2G37760 51.14(n)
    48.11(a)
      818353  NM_129332.4  NP_565871.1 
    rice
    (Oryza sativa)
    Liliopsida NM_194590.12   -- 70.33(n)    NM_194590.1 


    ENSEMBL Gene Tree for AKR1A1 (if available)
    TreeFam Gene Tree for AKR1A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AKR1A1 gene
    AKR1C22  AKR1CL12  AKR1C32  AKR1B102  AKR1C42  AKR1E22  AKR1B152  AKR1B12  
    AKR1D12  AKR1C12  
    11 SIMAP similar genes for AKR1A1 using alignment to 4 protein entries:     AK1A1_HUMAN (see all proteins):
    AKR1B1    AKR1B10    AKR1B15    AKR1C1    AKR1C2    AKR1D1
    AKR1C3    AKR1C4    AKR1CL1    AKR1E2    LOC402299

    Find genes that share paralogs with AKR1A1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AKR1A1
    PGOHUM00000242595


    (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)
    About This Section

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    Selected SNPs for AKR1A1 (see all 547)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1997792971,2
    --46014533(+) TTTTA-/TTTTTT 4 -- us2k10--------
    rs24534041,2
    C,F--46014735(+) aggctG/Agagtg 4 -- us2k18Minor allele frequency- A:0.44NA WA CSA EA 368
    rs1830737761,2
    C--46014897(+) TTGTTA/GCCCAG 4 -- us2k10--------
    rs1877114291,2
    --46014953(+) CCCAGA/GTTCAA 4 -- us2k10--------
    rs120776211,2
    C,F--46015005(+) GGCATA/GTGCCA 4 -- us2k15Minor allele frequency- G:0.44NA CSA 9
    rs1925187011,2
    --46015136(+) ACAGGC/TGTGAG 4 -- us2k10--------
    rs1476608601,2
    C--46015152(+) GCACCC/TGGCCA 4 -- us2k10--------
    rs112111381,2
    C,F,A--46015157(+) CGGCCG/AAGTCT 4 -- us2k111Minor allele frequency- A:0.16NA WA CSA EA 373
    rs6227981,2
    C,F,A,H--46015271(+) AGAGTG/TGCTCT 4 -- us2k123Minor allele frequency- T:0.46MN NS EA NA WA CSA 2534
    rs1397016311,2
    --46015526(+) ATGGTA/GTGCTG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for AKR1A1 (46016215 - 46035723 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for AKR1A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829726CNV Loss17160897
    nsv871928CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AKR1A1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 103830    OMIM disorders: --

    7 diseases for AKR1A1:    
    About MalaCards
    ethylene glycol poisoning    methanol poisoning    alcohol-related birth defect    hangover
    fetal alcohol syndrome    liver cirrhosis    alcohol dependence


    Find genes that share disorders with AKR1A1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for AKR1A1 gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alcoholism 75 49 9463245 (4), 10733556 (2), 9066994 (2), 8244116 (1) (see all 39)
    liver diseases alcoholic 67.9 6 15698522 (2), 2379876 (1), 9373704 (1), 9731720 (1) (see all 5)
    metabolic acidosis 59.4 6 18375643 (1), 18958433 (1), 12448112 (1)
    fetal alcohol syndrome 58.4 3 7748347 (2), 1877746 (1)
    alcohol abuse 55.7 2 2408260 (1), 11704927 (1)
    alcoholic cirrhosis 53.3 6 20171022 (2), 19404864 (1), 1592339 (1), 8325617 (1) (see all 5)
    poisoning 52.9 20 11172179 (2), 16035197 (2), 11099610 (2), 10497633 (1) (see all 16)
    intoxication 50.6 12 9865242 (1), 11392120 (1), 11979651 (1), 8865952 (1) (see all 11)
    pancreatitis alcoholic 35.8 1 8986224 (1)
    cirrhosis 30.9 3 1592339 (1), 8428716 (1)

    Genetic Association Database (GAD): AKR1A1
    Human Genome Epidemiology (HuGE) Navigator: AKR1A1 (9 documents)

    Export disorders for AKR1A1 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 AKR1A1 gene, integrated from 10 sources (see all 792):
    (articles sorted by number of sources associating them with AKR1A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The structural organization of the human aldehyde reductase gene, AKR1A1, and mapping to chromosome 1p33-->p32. (PubMed id 10393438)1, 2, 3, 9 Fujii J.... Taniguchi N. (Cytogenet. Cell Genet. 1999)
    2. The aldo-keto reductase superfamily. cDNAs and deduced amino acid sequences of human aldehyde and aldose reductases. (PubMed id 2498333)1, 2, 3 Bohren K.M.... Gabbay K.H. (J. Biol. Chem. 1989)
    3. Major differences exist in the function and tissue-specific expression of human aflatoxin B1 aldehyde reductase and the principal human aldo-keto reductase AKR1 family members. (PubMed id 10510318)1, 2, 9 O'Connor T.... Hayes J.D. (Biochem. J. 1999)
    4. Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma. (PubMed id 17149600)1, 4, 9 Lan Q....Chanock S. (Hum. Genet. 2007)
    5. Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma. (PubMed id 16543247)1, 4, 9 Wang S.S....Rothman N. (Carcinogenesis 2006)
    6. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    7. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    8. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    9. Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma. (PubMed id 19423521)1, 4 Han X....Zhang Y. (amp 2009)
    10. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10327 HGNC: 380 AceView: AKR1A1 Ensembl:ENSG00000117448 euGenes: HUgn10327
    ECgene: AKR1A1 Kegg: 10327 H-InvDB: AKR1A1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for AKR1A1 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 AKR1A1 gene:
    Search GeneIP for patents involving AKR1A1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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