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AKR7L Gene

pseudogene   GIFtS: 40
GCID: GC01M019592

Aldo-Keto Reductase Family 7-Like

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(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 7-Like1 2     EC 1.-.-.-3
AFAR32 3 5     AFB1 Aldehyde Reductase 33
AKR7A42 3 5     AFB1-AR 33
AFB1-AR32     Aldoketoreductase 7-Like3

External Ids:    HGNC: 240561   Entrez Gene: 2461812   Ensembl: ENSG000002114547   OMIM: 6084785   UniProtKB: Q8NHP13   

Export aliases for AKR7L gene to outside databases

Previous GC identifers: GC01M019466 GC01M017838


(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 AKR7L Gene:
This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1.
The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1)
to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which
includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no
evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a
duplicated pseudogene, and it is therefore represented as such in this Gene record. Alternative splicing results
in multiple transcript variants. (provided by RefSeq, Jul 2011)

GeneCards Summary for AKR7L Gene:
AKR7L (aldo-keto reductase family 7-like) is a pseudogene. GO annotations related to this gene include oxidoreductase activity. An important paralog of this gene is AKR7A3.

UniProtKB/Swiss-Prot: ARK74_HUMAN, Q8NHP1
Function: Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol.
May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent
hepatocarcinogen (By similarity)




(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 AKR7L gene promoter:
         RP58   Pax-5   NF-kappaB2   HTF   Lmo2   IRF-1   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKR7L promoter sequence
   Search Chromatin IP Primers for AKR7L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKR7L


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

Entrez Gene cytogenetic band: 1p36.13|1p35-p36.1   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.1-p35

AKR7L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKR7L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M019592:  view genomic region     (about GC identifiers)

Start:
19,592,476 bp from pter      End:
19,600,688 bp from pter
Size:
8,213 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for AKR7L

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ARK74_HUMAN, Q8NHP1 (See protein sequence)
Recommended Name: Aflatoxin B1 aldehyde reductase member 4  
Size: 331 amino acids; 36964 Da
Secondary accessions: Q5U614
Alternative splicing: 2 isoforms:  Q8NHP1-1   Q8NHP1-2   

Explore the universe of human proteins at neXtProt for AKR7L: NX_Q8NHP1

Explore proteomics data for AKR7L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys208
  • Modification sites at PhosphoSitePlus

  • See AKR7L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000402491   ENSP00000411913   ENSP00000406430  

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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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    2 InterPro protein domains:
     IPR001395 Aldo/ket_red
     IPR023210 NADP_OxRdtase_dom

    Graphical View of Domain Structure for InterPro Entry Q8NHP1

    ProtoNet protein and cluster: Q8NHP1

    UniProtKB/Swiss-Prot: ARK74_HUMAN, Q8NHP1
    Similarity: Belongs to the aldo/keto reductase family. Aldo/keto reductase 2 subfamily


    Find genes that share domains with AKR7L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: ARK74_HUMAN, Q8NHP1
    Function: Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol.
    May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent
    hepatocarcinogen (By similarity)

         Enzyme Number (IUBMB): EC 1.-.-.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity IEA--
         
    Find genes that share ontologies with AKR7L           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AKR7L

    miRNA
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    miRTarBase miRNAs that target AKR7L:
    hsa-mir-34a-5p (MIRT025393)

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    (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
    mitochondrion3
    nucleus1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKR7L
    Interactions:

        Search GeneGlobe Interaction Network for AKR7L

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for AKR7L (Q8NHP13 ENSP000004119134) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3GLB2Q9NR463I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    KCNH1ENSP000002717514STRING: ENSP00000271751
    KCNH5ENSP000003214274STRING: ENSP00000321427
    KCNH2ENSP000002621864STRING: ENSP00000262186
    About this table

    (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 AKR7L (ARK74)

    4 HMDB Compounds for AKR7L    About this table
    CompoundSynonyms CAS #PubMed Ids
    Aflatoxin B1AFB1 (see all 2)1162-65-8--
    Aflatoxin B1 dialcoholAFB1 dialcohol ----
    Seleniumselenium (see all 5)7782-49-2--
    Selenocysteine(2R)-2-amino-3-selanylpropanoate (see all 8)3614-08-2--



    (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 AKR7L gene (2 alternative transcripts): 
    NM_001145289.1  NM_201252.3  

    Unigene Cluster for AKR7L:

    Aldo-keto reductase family 7-like
    Hs.662342  [show with all ESTs]
    Unigene Representative Sequence: NR_040288
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000457194 ENST00000429712 ENST00000493176 ENST00000420396(uc021ohn.1 uc021oho.1)

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      QuantiFast Probe-based Assays in human, mouse, rat AKR7L

    Additional mRNA sequence: 

    AJ278012.1 BC035351.1 NR_040288.1 NR_040289.1 

    5 DOTS entries:

    DT.98132118  DT.75116548  DT.100028944  DT.316608  DT.91771037 

    Selected AceView cDNA sequences (see all 333):

    BQ021710 BX362128 BX281656 AV653525 CR625016 NM_003689 BC011586 BX401279 
    BI835445 AA831310 BC004111 BM707873 CR606766 CR597954 AI343752 AA595048 
    CR614593 BC013996 BU542750 AL540565 AW059559 BQ233440 AL555575 BU629489 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AKR7L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AKR7L Expression
    About this image

    AKR7L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AKR7L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.662342

    UniProtKB/Swiss-Prot: ARK74_HUMAN, Q8NHP1
    Tissue specificity: Mainly expressed in uterus

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AKR7L gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia AKR7L6
    aldo-keto reductase family 7-like
    27(a)
    1 ↔ 1
    2(79334205-79342984)
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    22(a)
    1 → many
    21(4669158-4673255)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    20(a)
    1 → many
    AAWZ02040488(128-4390)
    zebrafish
    (Danio rerio)
    Actinopterygii akr7a36
    aldo-keto reductase family 7, member A3 (aflatoxin...
    24(a)
    1 → many
    11(42944035-42951294) ENSDARG00000016649
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative aryl alcohol dehydrogenase; transcription...
    5(a)
    1 → many
    XVI(381965-382993) YPL088W


    ENSEMBL Gene Tree for AKR7L (if available)
    TreeFam Gene Tree for AKR7L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AKR7L gene
    AKR7A32  KCNAB12  KCNAB32  AKR7A22  KCNAB22  
    2 SIMAP similar genes for AKR7L using alignment to 1 protein entry:     ARK74_HUMAN:
    AKR7A3    AKR7A2

    Find genes that share paralogs with AKR7L           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AKR7L (see all 332)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs784230691,2
    F--19592114(+) CTCCCT/GTGGAA 2 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1463840971,2
    --19592135(+) GAGGCC/TACATG 2 -- ds50010--------
    rs1397505331,2
    --19592140(+) CACATA/GTGTGC 2 -- ds50010--------
    rs1500690461,2
    --19592146(+) TGTGCC/TAGTTA 2 -- ds50010--------
    rs799803731,2
    C,F--19592224(+) ACACCG/AGGGAA 2 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1886860131,2
    --19592248(+) CCCCAC/GTGAGT 2 -- ds50010--------
    rs1153074181,2
    C,F--19592343(+) CTCTTG/CAACTC 2 -- ds50012Minor allele frequency- C:0.05NA EA 240
    rs764042791,2
    C,F--19592487(+) TACTTA/GAAGTG 2 -- nc-transcript-variant1Minor allele frequency- G:0.01WA 118
    rs1140325591,2
    C,F--19592538(+) TCACAA/GTCAAT 2 -- nc-transcript-variant1Minor allele frequency- G:0.04WA 118
    rs1453472901,2
    --19592563(+) ATAAGC/TGCCCC 2 -- nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for AKR7L (19592476 - 19600688 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AKR7L:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744819CNV Deletion23290073
    dgv25e199CNV Deletion23128226
    nsv871933CNV Loss21882294
    esv26443CNV Loss19812545

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608478    OMIM disorders: --


    Find genes that share disorders with AKR7L           About GenesLikeMe

    Genetic Association Database (GAD): AKR7L

    Export disorders for AKR7L 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 AKR7L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with AKR7L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Aflatoxin B1 aldehyde reductase (AFAR) genes cluster at 1p35-1p36.1 in a region frequently altered in human tumour cells. (PubMed id 12879023)1, 2, 3 Praml C.... Schwab M. (Oncogene 2003)
    2. Voxelwise genome-wide association study (vGWAS). (PubMed id 20171287)1, 4 Stein J.L....Thompson P. (Neuroimage 2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    7. The aldo-keto reductase superfamily homepage. (PubMed id 12604248)1 Hyndman D....Penning T.M. (Chem. Biol. Interact. 2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 246181 HGNC: 24056 AceView: AKR7A2andAKR7A3andAFAR3 Ensembl:ENSG00000211454 euGenes: HUgn246181
    ECgene: AKR7L H-InvDB: AKR7L

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AKR7L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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