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

AKR1A1 Gene

protein-coding   GIFtS: 65
GCID: GC01P046017

aldo-keto reductase family 1, member A1 (aldehyde reductase)

 Explore 81 diseases affiliated with
AKR1A1 via our new
 Human Malady Compendium 
Biological research products
for AKR1A1
    

(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 A1 (Aldehyde Reductase)1 2     EC 1.1.1.23 8
ALR1 2 3 5     ARM2
DD31 2     Alcohol Dehydrogenase2
Aldehyde Reductase2 3     Alcohol Dehydrogenase [NADP(+)]2
Aldo-Keto Reductase Family 1 Member A12 3     Dihydrodiol Dehydrogenase 32
ALDR12 3     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AKR1A1:
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)

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)


(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_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AKR1A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
46,035,721 bp from pter
Size:
19,507 bases      Orientation:
plus strand

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P14550

  • 4/10 DME Specific Peptides for AKR1A1 (P14550) (see all 10)
     AAIYGNE  GLGTWKS  GYRHIDCA  MPLIGLGT 

    AKR1A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000361140   ENSP00000398414   ENSP00000312606  

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    Uscn Proteins for AKR1A1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0016324apical plasma membrane IEA--


    AKR1A1 for ontologies           About GeneDecksing



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

    AKR1A1 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 P14550

    ProtoNet protein and cluster: P14550

    1 Blocks protein family: IPB001395 Aldo/keto reductase

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


    (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: 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

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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:0004032alditol:NADP+ 1-oxidoreductase activity TAS2498333
    GO:0009055electron carrier activity TAS2498333
    GO:0047939L-glucuronate reductase activity IEA--


    AKR1A1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AKR1A1:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Akr1a1tm1Maka for AKR1A1
         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 

    AKR1A1 for phenotypes           About GeneDecksing


    (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 - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Naphthalene metabolism
    Naphthalene metabolism1.00
    Benzo(a)pyrene metabolism0.32
    Naphthalene metabolism1.00
    2Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
    Prostaglandin 2 biosynthesis and metabolism FM0.44
    Prostaglandin 2 biosynthesis and metabolism FM0.44
    3Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics1.00
    4Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics1.00
    5Glycerolipid metabolism
    Glycerolipid metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for AKR1A1
        Prostaglandin 2 biosynthesis and metabolism FM
    Naphthalene metabolism


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

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

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

    3         Kegg Pathways  (Kegg details for AKR1A1):
        Glycolysis / Gluconeogenesis
    Glycerolipid metabolism
    Metabolic pathways


    AKR1A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKR1A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/65 Interacting proteins for AKR1A1 (P145503 ENSP000003126064) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC4Q9NPD33, ENSP000003154764I2D: score=4 STRING: ENSP00000315476
    ISYNA1Q9NPH23I2D: score=4 
    PRPF6O949063I2D: score=3 
    AARSP495883I2D: score=1 
    ACAT1P247523I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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--


    AKR1A1 for ontologies           About GeneDecksing



    (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

    AKR1A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AKR1A1

    10/17 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--

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

    10/129 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about AKR1A1 / AK1A1 

    (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,
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    About This Section

    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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    Additional cDNA sequence: 

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

    24/31 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 

    24/653 AceView cDNA sequences (see all 653):

    AL555848 CA308978 CR621968 H30523 BM851713 NM_153326 BQ778183 BU166803 
    CR616472 BE276619 BQ773247 BE274146 AA769351 CR605893 BQ948897 BG760691 
    BQ057404 CD671277 CA431652 BI870205 CR600290 CD723863 BI761517 AA643349 

    GeneLoc Exon Structure

    5/19 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™, 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

    AKR1A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGTGATCCT

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

    About this image
    See AKR1A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKR1A1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AKR1A1 gene from 6/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AKR1A11 aldo-keto reductase family 1, member A1 (aldehyde reductase) 71.79(n)
    78.46(a)
      424599  NM_001006539.1  NP_001006539.1 
    lizard
    (Anolis carolinensis)
    Reptilia AKR1A16
    --
    75(a)
    1 ↔ 1
    AAWZ02036488(5802-20700)
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G377601 NAD(P)-linked oxidoreductase-like protein 51.14(n)
    48.11(a)
      818353  NM_201897.3  NP_973626.2 
    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)
    About This Section
    Paralogs for AKR1A1 gene
    AKR1C22  AKR1C32  AKR1CL12  AKR1B102  AKR1E22  AKR1C42  AKR1B152  AKR1B12  
    AKR1D12  AKR1C12  
    11 SIMAP similar genes for AKR1A1 using alignment to 2 protein entries:     AK1A1_HUMAN (see all proteins):
    AKR1B1    AKR1B10    AKR1B15    AKR1C1    AKR1C2    AKR1D1
    AKR1C4    AKR1CL1    AKR1E2    AKR1C3    LOC402299

    AKR1A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AKR1A1
    PGOHUM00000242595


    (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

    10/436 NCBI SNPs in AKR1A1 are shown (see all 436    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
    rs569450151,2
    C--46014855(+) TTTTTTTTT/-  
            
    GAGAT
    4 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1830737761,2
    --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
    --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

    HapMap Linkage Disequilibrium report for AKR1A1 (46016215 - 46035721 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for 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.)
    About This Section

    AKR1A1 for disorders           About GeneDecksing

    OMIM gene information: 103830    OMIM disorders: --

    20/81 diseases for AKR1A1 (see all 81):    About MalaCards
    alcoholism    alcohol-related birth defect    retinol binding protein    birth defects
    fetal alcohol syndrome    dental fluorosis    cluster headache    alcohol abuse
    peptic ulcer    nonalcoholic steatohepatitis    non-hodgkin lymphoma    coronary heart disease
    liver cirrhosis    lactic acidosis    atrophic gastritis    alcoholic liver cirrhosis
    viral hepatitis    jaundice    myocardial infarction    ischemic heart disease

    10/52 Novoseek 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)

    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)
    About This Section

    PubMed articles for AKR1A1 gene, integrated from 9 sources (see all 788):
    (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. (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. (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. (1999)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Characterization of the human aldehyde reductase gene and promoter. (PubMed id 10486210)1, 2 Barski O.A.... Bohren K.M. (1999)
    6. Mechanism of human aldehyde reductase: characterization of the active site pocket. (PubMed id 7669785)1, 2 Barski O.A.... Bohren K.M. (1995)
    7. Structures of human and porcine aldehyde reductase: an enzyme implicated in diabetic complications. (PubMed id 15299353)1, 2 El-Kabbani O.... DeLucas L.J. (1994)
    8. Primary structure of aldehyde reductase from human liver. (PubMed id 3615425)1, 2 Wermuth B.... Gabbay K.H. (1987)
    9. Metabolic activation of polycyclic aromatic hydrocarbon trans- dihydrodiols by ubiquitously expressed aldehyde reductase (AKR1A1). (PubMed id 11306097)2, 9 Palackal N.T.... Penning T.M. (2001)
    10. Two allelic variants of aldo-keto reductase 1A1 exhibit reduced in vitro metabolism of daunorubicin. (PubMed id 18276838)2, 9 Bains O.S....Riggs K.W. (2008)

    (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: 10327 HGNC: 380 AceView: AKR1A1 Ensembl:ENSG00000117448 euGenes: HUgn10327
    ECgene: AKR1A1 Kegg: 10327 H-InvDB: AKR1A1

    (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 AKR1A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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