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ALOXE3 Gene

protein-coding   GIFtS: 59
GCID: GC17M007999

Arachidonate Lipoxygenase 3

  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)
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Aliases
Arachidonate Lipoxygenase 31 2     E-LOX2
Epidermal LOX-32 3     eLOX32
Epidermis-Type Lipoxygenase 32 3     Epidermal Lipoxygenase2
e-LOX-32 3     Hydroperoxide Isomerase ALOXE32
eLOX-32 3     EC 1.13.11.-3
ARCI32 5     EC 5.4.4.-3

External Ids:    HGNC: 137431   Entrez Gene: 593442   Ensembl: ENSG000001791487   OMIM: 6072065   UniProtKB: Q9BYJ13   

Export aliases for ALOXE3 gene to outside databases

Previous GC identifers: GC17P008434 GC17M009087 GC17M007941 GC17M008199 GC17M007939 GC17M007894


(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 ALOXE3 Gene:
This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The
encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol
(8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE).
This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha
(PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this
gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene
is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital
ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for
this gene.(provided by RefSeq, Sep 2009)

GeneCards Summary for ALOXE3 Gene:
ALOXE3 (arachidonate lipoxygenase 3) is a protein-coding gene. Diseases associated with ALOXE3 include ichthyosis, congenital, autosomal recessive 3, and aloxe3-related autosomal recessive congenital ichthyosis. GO annotations related to this gene include hepoxilin A3 synthase activity and iron ion binding. An important paralog of this gene is ALOX12B.

UniProtKB/Swiss-Prot: LOXE3_HUMAN, Q9BYJ1
Function: Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide
isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide
isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by
ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme
by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid,
to produce fatty acid hydroperoxides. In the skin, acts downstream of ALOX12B on the linoleate moiety of
esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in
the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of
corneocytes lipid envelope and the establishment of the skin barrier to water loss. In parallel, it may have a
signaling function in barrier formation through the production of hepoxilins metabolites. Plays also a role in
adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG. Through
the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia

Gene Wiki entry for ALOXE3 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:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALOXE3 gene promoter:
         Nkx3-1   NF-1/L   NF-1   Nkx3-1 v4   Lmo2   Nkx3-1 v1   LCR-F1   HEN1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALOXE3 promoter sequence
   Search Chromatin IP Primers for ALOXE3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALOXE3


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

ALOXE3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALOXE3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M007999:  view genomic region     (about GC identifiers)

Start:
7,999,218 bp from pter      End:
8,022,365 bp from pter
Size:
23,148 bases      Orientation:
minus 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, 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., 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: LOXE3_HUMAN, Q9BYJ1 (See protein sequence)
Recommended Name: Hydroperoxide isomerase ALOXE3  
Size: 711 amino acids; 80543 Da
Cofactor: Binds 1 iron ion per subunit (By similarity)
Secondary accessions: B2R981 B7Z3W0 Q3ZB74 Q9H4F2 Q9HC22
Alternative splicing: 2 isoforms:  Q9BYJ1-1   Q9BYJ1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALOXE3: NX_Q9BYJ1

Explore proteomics data for ALOXE3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ALOXE3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159432.1  NP_067641.2  

    ENSEMBL proteins: 
     ENSP00000369494   ENSP00000400581   ENSP00000314879  

    ALOXE3 Human Recombinant Protein Products:

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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:
    ALOX: Arachidonate lipoxygenases

    IUPHAR Guide to PHARMACOLOGY protein family classification: E-LOX
    Lipoxygenases

    Selected InterPro protein domains (see all 7):
     IPR020833 LipOase_Fe_BS
     IPR013819 LipOase_C
     IPR001024 PLAT/LH2_dom
     IPR008976 Lipase_LipOase
     IPR020834 LipOase_CS

    Graphical View of Domain Structure for InterPro Entry Q9BYJ1

    ProtoNet protein and cluster: Q9BYJ1

    3 Blocks protein domains:
    IPB000907 Lipoxygenase
    IPB001024 Lipoxygenase
    IPB001885 Mammalian lipoxygenase signature


    UniProtKB/Swiss-Prot: LOXE3_HUMAN, Q9BYJ1
    Similarity: Belongs to the lipoxygenase family
    Similarity: Contains 1 lipoxygenase domain
    Similarity: Contains 1 PLAT domain


    ALOXE3 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LOXE3_HUMAN, Q9BYJ1
    Function: Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide
    isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide
    isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by
    ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme
    by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid,
    to produce fatty acid hydroperoxides. In the skin, acts downstream of ALOX12B on the linoleate moiety of
    esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in
    the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of
    corneocytes lipid envelope and the establishment of the skin barrier to water loss. In parallel, it may have a
    signaling function in barrier formation through the production of hepoxilins metabolites. Plays also a role in
    adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG. Through
    the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia
    Catalytic activity: (5Z,8Z,10E,14Z)-(12R)-12-hydroperoxyicosa-5,8,10,14-tetraenoate =
    (5Z,9E,14Z)-(8R,11R,12R)-8-hydroxy-11,12-hydroperoxyicosa-5,9,14-trienoate
    Biophysicochemical properties: Kinetic parameters: KM=46 uM for (12R)-HPETE; KM=28 uM for (12S)-HPETE; KM=32 uM
    for (15S)-HPETE; KM=50 uM for synthetic fatty acid 9E,11Z,14Z-20:3omega6 (at pH 7.5); Vmax=3.256 umol/min/mg
    enzyme for (12R)-HPETE (at pH 7.5); Vmax=0.858 umol/min/mg enzyme for (12S)-HPETE (at pH 7.5); Vmax=0.484
    umol/min/mg enzyme for (15S)-HPETE (at pH 7.5); Note=Has a 5 to 10 fold higher activity toward (12R)-HPETE
    (hydroperoxyeicosatetraenoic acid) compared to (12S)-HPETE and (15S)-HPETE. From (12R)-HPETE produces a
    stereoisomer of hepoxilin A3. More active on hydroperoxides with an R configuration than an S one;

         Enzyme Numbers (IUBMB): EC 5.4.4.-1 EC 1.13.11.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0016702NOT oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA12881489
    GO:0046872metal ion binding ----
    GO:0051120hepoxilin A3 synthase activity IDA12881489
         
    ALOXE3 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Aloxe3):
     growth/size/body  homeostasis/metabolism  integument  mortality/aging  no phenotypic analysis 

    ALOXE3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aloxe3tm1.2Krie for ALOXE3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALOXE3
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    3 qRT-PCR Assays for microRNAs that regulate ALOXE3:
    hsa-miR-525-5p hsa-miR-520a-5p hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidALOXE3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALOXE3

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    Sino Biological Human cDNA Clone for ALOXE3
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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 UniProtKB/Swiss-Prot
    LOXE3_HUMAN, Q9BYJ1: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion3
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    ALOXE3 for ontologies           About GeneDecksing


    (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 ALOXE3 About    
    See pathways by source

    SuperPathContained pathways About
    1Prostaglandin 2 biosynthesis and metabolism FM
    Prostaglandin 2 biosynthesis and metabolism FM

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ALOXE3
        Prostaglandin 2 biosynthesis and metabolism FM



    UniProtKB/Swiss-Prot: LOXE3_HUMAN, Q9BYJ1
    Pathway: Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis
    Pathway: Lipid metabolism; sphingolipid metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALOXE3
    Interactions:

        Search GeneGlobe Interaction Network for ALOXE3

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

    Selected Interacting proteins for ALOXE3 (Q9BYJ11 ENSP000003148794) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALOX12BO753421EBI-6925949,EBI-6925925
    COTL1ENSP000002624284STRING: ENSP00000262428
    ITGB4ENSP000002001814STRING: ENSP00000200181
    KRT5ENSP000002522424STRING: ENSP00000252242
    VPS39ENSP000003265344STRING: ENSP00000326534
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process IDA--
    GO:0019233sensory perception of pain ISS--
    GO:0019369arachidonic acid metabolic process IDA12881489
    GO:0019372lipoxygenase pathway IDA--
    GO:0035357peroxisome proliferator activated receptor signaling pathway ISS--

    ALOXE3 for ontologies           About GeneDecksing



    (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 ALOXE3 (LOXE3)

    1 HMDB Compound for ALOXE3    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    3 Novoseek inferred chemical compound relationships for ALOXE3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    12(r)-hpete 97.8 4 15629692 (1), 18086569 (1), 17045234 (1)
    arachidonic acid 55.6 5 10569809 (1), 17608720 (1), 17436029 (1)
    lipid 10.2 1 18341575 (1)



    ALOXE3 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALOXE3 gene (2 alternative transcripts): 
    NM_001165960.1  NM_021628.2  

    Unigene Cluster for ALOXE3:

    Arachidonate lipoxygenase 3
    Hs.232770  [show with all ESTs]
    Unigene Representative Sequence: NM_001165960
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380149(uc002gka.3 uc010vuo.2) ENST00000448843(uc010cnr.3)
    ENST00000583808 ENST00000318227(uc010vup.2)
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    Additional mRNA sequence: 

    AF182218.1 AJ269499.1 AK292732.1 AK296416.1 AK313677.1 BC101938.1 BC101939.1 BC103508.1 
    BC104724.1 

    3 DOTS entries:

    DT.101977866  DT.86840964  DT.75114519 

    14 AceView cDNA sequences:

    BM714205 BM676593 AJ269499 AF182218 NM_021628 AW003512 AW300461 AW613990 
    CD693403 AK122822 BQ300190 BG959287 AW593980 BQ367813 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ALOXE3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                                                            
    SP2:                                                                                                            


    ECgene alternative splicing isoforms for ALOXE3

    (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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    ALOXE3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTCCCCTT
    ALOXE3 Expression
    About this image

    ALOXE3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALOXE3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.232770

    UniProtKB/Swiss-Prot: LOXE3_HUMAN, Q9BYJ1
    Tissue specificity: Predominantly expressed in skin

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALOXE3

    (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 chordates.

    Orthologs for ALOXE3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aloxe31 , 5 arachidonate lipoxygenase 31, 5 86.36(n)1
    88.47(a)1
      11 (42.38 cM)5
    238011  NM_011786.21  NP_035916.21 
     691258965 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    41(a)
    1 → many
    JH376180.1(21395-23148)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 6)
    Uncharacterized protein
    (see all 6)
    55(a)
    54(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    GL343400.1(684955-695029)
    GL343400.1(726949-745560)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480456692   -- 84.62(n)    48045669 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-17e16.91 si:dkey-17e16.9 52.09(n)
    47.09(a)
      794132  XM_001333998.2  XP_001334034.2 


    ENSEMBL Gene Tree for ALOXE3 (if available)
    TreeFam Gene Tree for ALOXE3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALOXE3 gene
    ALOX12B2  ALOX52  ALOX15B2  ALOX152  ALOX122  
    6 SIMAP similar genes for ALOXE3 using alignment to 2 protein entries:     LOXE3_HUMAN (see all proteins):
    ALOX12B    arachidonate 12-lipoxygenase    ALOX15B    ALOX5    ALOX15    ALOX12

    ALOXE3 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ALOXE3
    PGOHUM00000237219


    (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 ALOXE3 (see all 796)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0151754
    Ichthyosis, congenital, autosomal recessive 3 (ARCI3)4--see VAR_0151752 R S mis40--------
    VAR_0695654
    Ichthyosis, congenital, autosomal recessive 3 (ARCI3)4--see VAR_0695652 P L mis40--------
    VAR_0695614
    Ichthyosis, congenital, autosomal recessive 3 (ARCI3)4--see VAR_0695612 L M mis40--------
    VAR_0695624
    Ichthyosis, congenital, autosomal recessive 3 (ARCI3)4--see VAR_0695622 G V mis40--------
    VAR_0695644
    Ichthyosis, congenital, autosomal recessive 3 (ARCI3)4--see VAR_0695642 L P mis40--------
    VAR_0151764
    Ichthyosis, congenital, autosomal recessive 3 (ARCI3)4--see VAR_0151762 V F mis40--------
    rs1214342331,2
    Cpathogenic18004301(-) AGCTTC/TGAGGG 4 R * stg11Minor allele frequency- T:0.00EU 1323
    rs1214342351,2
    C,Funknown18004292(-) GGCTGT/ATGGAT 4 /M /L mis12Minor allele frequency- A:0.00NA EU 5873
    rs10019581,2
    C,F,A,H--7987851(-) CCACAC/TGGAGA 2 -- ds500113Minor allele frequency- T:0.44MN NS EA NA WA 912
    rs1468992331,2
    --7987920(+) GTACCC/GATCCA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ALOXE3 (7999218 - 8022365 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ALOXE3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715609CNV Deletion23290073
    nsv112429CNV Insertion16902084
    nsv523885CNV Loss19592680
    nsv457661CNV Loss19166990
    nsv907657CNV Loss21882294
    nsv518133CNV Loss19592680
    nsv833352CNV Loss17160897
    esv22594CNV Gain19812545
    nsv514860CNV Complex21397061

    Human Gene Mutation Database (HGMD): ALOXE3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALOXE3
    DNA2.0 Custom Variant and Variant Library Synthesis for ALOXE3

    (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: 607206   
    OMIM disorders: 606545  
    UniProtKB/Swiss-Prot: LOXE3_HUMAN, Q9BYJ1
  • Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]: A form of autosomal recessive
    congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the
    epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar
    ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within
    the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often
    associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the
    entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on
    an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 13 diseases for ALOXE3:    
    About MalaCards
    ichthyosis, congenital, autosomal recessive 3    aloxe3-related autosomal recessive congenital ichthyosis    ichthyosis, congenital, autosomal recessive 2    autosomal recessive congenital ichthyosis
    congenital ichthyosiform erythroderma    anhidrosis    keratoderma    childhood leukemia
    meningioma    ovarian cancer    multiple myeloma    myeloma
    leukemia

    2 diseases from the University of Copenhagen DISEASES database for ALOXE3:
    Congenital ichthyosiform erythroderma     Anhidrosis

    ALOXE3 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for ALOXE3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital ichthyosis 95.1 2 17608720 (1), 17139268 (1)
    ichthyosiform erythroderma congenital 91.7 7 11773004 (2), 15629692 (1), 16116617 (1)
    ichthyosis 89.3 4 15629692 (1), 19890349 (1), 17436029 (1), 18341575 (1)

    GeneTests: ALOXE3
    GeneReviews: ALOXE3
    Genetic Association Database (GAD): ALOXE3
    Human Genome Epidemiology (HuGE) Navigator: ALOXE3 (6 documents)

    Export disorders for ALOXE3 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 ALOXE3 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with ALOXE3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (PubMed id 19131948)1, 2, 4, 9 Eckl K.M.... Hennies H.C. (J. Invest. Dermatol. 2009)
    2. Human and mouse eLOX3 have distinct substrate specificities: implications for their linkage with lipoxygenases in skin. (PubMed id 17045234)1, 2, 9 Yu Z....Brash A.R. (Arch. Biochem. Biophys. 2006)
    3. Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. (PubMed id 15629692)1, 2, 9 Yu Z....Brash A.R. (Biochim. Biophys. Acta 2005)
    4. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. (PubMed id 11773004)1, 2, 9 Jobard F.... Fischer J. (Hum. Mol. Genet. 2002)
    5. A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression. (PubMed id 11350124)1, 2, 9 Krieg P.... Fuerstenberger G. (Genomics 2001)
    6. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PubMed id 19890349)1, 2, 9 Vahlquist A.... Fischer J. (J. Invest. Dermatol. 2010)
    7. On the role of molecular oxygen in lipoxygenase activation: comparison and contrast of epidermal lipoxygenase-3 with soybean lipoxygenase-1. (PubMed id 20923767)1, 2 Zheng Y. and Brash A.R. (J. Biol. Chem. 2010)
    8. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    9. Dioxygenase activity of epidermal lipoxygenase-3 unveiled: typical and atypical features of its catalytic activity with natural and synthetic polyunsaturated fatty acids. (PubMed id 20921226)1, 2 Zheng Y. and Brash A.R. (J. Biol. Chem. 2010)
    10. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)

    (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: 59344 HGNC: 13743 AceView: ALOXE3 Ensembl:ENSG00000179148 euGenes: HUgn59344
    ECgene: ALOXE3 H-InvDB: ALOXE3

    (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 ALOXE3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALOXE3[genesymbol]
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/153/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALOXE3 gene:
    Search GeneIP for patents involving ALOXE3

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



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