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

ALOXE3 Gene

protein-coding   GIFtS: 60
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)
About This Section

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 aloxe3-related autosomal recessive congenital ichthyosis, and autosomal recessive congenital ichthyosis, and among its related super-pathways are Synthesis of Prostaglandins (PG) and Thromboxanes (TX). GO annotations related to this gene include iron ion binding and linoleate 13S-lipoxygenase activity. An important paralog of this gene is ALOX12B.

UniProtKB/Swiss-Prot: LOXE3_HUMAN, Q9BYJ1
Function: Introduces molecular oxygen into polyunsaturated fatty acids. Exact substrate is not known

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALOXE3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LOXE3_HUMAN, Q9BYJ1 (See protein sequence)
Recommended Name: Epidermis-type lipoxygenase 3  
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYJ1

  • ALOXE3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALOXE3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001159432.1  NP_067641.2  

    ENSEMBL proteins: 
     ENSP00000369494   ENSP00000400581   ENSP00000314879  

    Human Recombinant Protein Products for ALOXE3: 
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    Novus Biologicals ALOXE3 Proteins
    Novus Biologicals ALOXE3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALOXE3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    ALOXE3 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for ALOXE3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ALOX: Arachidonate lipoxygenases

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

    5/7 InterPro protein domains (see all 7):
     IPR020833 LipOase_Fe_BS
     IPR013819 LipOase_C
     IPR001024 LipOase_LH2
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LOXE3_HUMAN, Q9BYJ1
    Function: Introduces molecular oxygen into polyunsaturated fatty acids. Exact substrate is not known

         Enzyme Number (IUBMB): EC 1.13.11.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding ----
    GO:0016165linoleate 13S-lipoxygenase activity ----
    GO:0016702NOT oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA12881489
    GO:0046872metal ion binding ----
         
    ALOXE3 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Aloxe3):
     growth/size  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 - Custom generated mouse model solutions for ALOXE3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ALOXE3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALOXE3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALOXE3 

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    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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                         Customized lentivirus expression plasmids for stable overexpression of ALOXE3 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALOXE3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALOXE3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
    Prostaglandin 2 biosynthesis and metabolism FM0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ALOXE3
        Prostaglandin 2 biosynthesis and metabolism FM


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



    UniProtKB/Swiss-Prot: LOXE3_HUMAN, Q9BYJ1
    Pathway: Lipid metabolism; leukotriene D4 biosynthesis


    ALOXE3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALOXE3

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

    4 Interacting proteins for ALOXE3 (ENSP000003148794) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COTL1ENSP000002624284STRING: ENSP00000262428
    ITGB4ENSP000002001814STRING: ENSP00000200181
    KRT5ENSP000002522424STRING: ENSP00000252242
    VPS39ENSP000003265344STRING: ENSP00000326534
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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:0019370leukotriene biosynthetic process ----
    GO:0019372lipoxygenase pathway IDA--

    ALOXE3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALOXE3 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about ALOXE3 / LOXE3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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)
    miRNA
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    3 QIAGEN miScript miRNA 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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    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:

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

    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


    See ALOXE3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALOXE3

    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
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ALOXE3 gene from 5/11 species (see all 11)    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 ALOXE31 arachidonate lipoxygenase 3 59.56(n)
    51.93(a)
      425997  XM_423676.3  XP_423676.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 6)
    --
    55(a)
    54(a)
    (see all 6)
    many ↔ many
    possible ortholog
    (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 LOC7941321 epidermis-type lipoxygenase 3-like 50.97(n)
    44.98(a)
      794132  XM_001333998.1  XP_001334034.1 


    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)
    About This Section
    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    ALOX15    ALOX5    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) 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

    10/796 SNPs in ALOXE3 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607206   
    OMIM disorders: 242100  
    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

  • 10 diseases for ALOXE3:    About MalaCards
    aloxe3-related autosomal recessive congenital ichthyosis    autosomal recessive congenital ichthyosis    congenital ichthyosiform erythroderma    anhidrosis
    ichthyosis    alcoholism    keratoderma    meningioma
    ovarian cancer    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)
    About This Section

    PubMed articles for ALOXE3 gene, integrated from 9 sources (see all 37):
    (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. (2009)
    2. 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. (2002)
    3. 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. (2001)
    4. Genotypic and clinical spectrum of self-improving col lodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients . (PubMed id 19890349)1, 2, 9 Vahlquist A....Fischer J. (2010)
    5. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    6. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    7. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (2008)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. Human and mouse eLOX3 have distinct substrate specificities: implications for their linkage with lipoxygenases in skin. (PubMed id 17045234)1, 9 Yu Z....Brash A.R. (2006)

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

      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 59344 HGNC: 13743 AceView: ALOXE3 Ensembl:ENSG00000179148 euGenes: HUgn59344
    ECgene: ALOXE3 H-InvDB: ALOXE3

    (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 ALOXE3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALOXE3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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