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Aliases for ALOXE3 Gene

Aliases for ALOXE3 Gene

  • Arachidonate Lipoxygenase 3 2 3
  • Hydroperoxy Icosatetraenoate Dehydratase 3 4
  • Epidermis-Type Lipoxygenase 3 3 4
  • Epidermal LOX-3 3 4
  • E-LOX-3 3 4
  • ELOX-3 3 4
  • ARCI3 3 6
  • Hydroperoxide Isomerase ALOXE3 3
  • Epidermal Lipoxygenase 3
  • EC 4.2.1.152 4
  • EC 5.4.4.7 4
  • E-LOX 3
  • ELOX3 3

External Ids for ALOXE3 Gene

Previous GeneCards Identifiers for ALOXE3 Gene

  • GC17P008434
  • GC17M009087
  • GC17M007941
  • GC17M008199
  • GC17M007939
  • GC17M007999
  • GC17M007894

Summaries for ALOXE3 Gene

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. Among its related pathways are Prostaglandin 2 biosynthesis and metabolism FM. GO annotations related to this gene include iron ion binding and hepoxilin A3 synthase activity. An important paralog of this gene is ALOX12.

UniProtKB/Swiss-Prot for ALOXE3 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALOXE3 Gene

Genomics for ALOXE3 Gene

Regulatory Elements for ALOXE3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ALOXE3 Gene

Start:
8,095,900 bp from pter
End:
8,119,047 bp from pter
Size:
23,148 bases
Orientation:
Minus strand

Genomic View for ALOXE3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALOXE3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALOXE3 Gene

Proteins for ALOXE3 Gene

  • Protein details for ALOXE3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYJ1-LOXE3_HUMAN
    Recommended name:
    Hydroperoxide isomerase ALOXE3
    Protein Accession:
    Q9BYJ1
    Secondary Accessions:
    • B2R981
    • B7Z3W0
    • Q3ZB74
    • Q9H4F2
    • Q9HC22

    Protein attributes for ALOXE3 Gene

    Size:
    711 amino acids
    Molecular mass:
    80543 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875; Note=Binds 1 Fe cation per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALOXE3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALOXE3 Gene

Proteomics data for ALOXE3 Gene at MOPED

Post-translational modifications for ALOXE3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALOXE3 Gene

No data available for DME Specific Peptides for ALOXE3 Gene

Domains for ALOXE3 Gene

Gene Families for ALOXE3 Gene

HGNC:
  • ALOX :Arachidonate lipoxygenases
IUPHAR :

Suggested Antigen Peptide Sequences for ALOXE3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYJ1

UniProtKB/Swiss-Prot:

LOXE3_HUMAN :
  • Q9BYJ1
Domain:
  • Contains 1 lipoxygenase domain.
  • Contains 1 PLAT domain.
Family:
  • Belongs to the lipoxygenase family.
genes like me logo Genes that share domains with ALOXE3: view

Function for ALOXE3 Gene

Molecular function for ALOXE3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=46 uM for (12R)-HPETE {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; KM=28 uM for (12S)-HPETE {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; KM=32 uM for (15S)-HPETE {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; KM=50 uM for synthetic fatty acid 9E,11Z,14Z-20:3omega6 (at pH 7.5) {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; Vmax=3.256 umol/min/mg enzyme for (12R)-HPETE (at pH 7.5) {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; Vmax=0.858 umol/min/mg enzyme for (12S)-HPETE (at pH 7.5) {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; Vmax=0.484 umol/min/mg enzyme for (15S)-HPETE (at pH 7.5) {ECO:0000269 PubMed:12881489, ECO:0000269 PubMed:17045234, ECO:0000269 PubMed:20921226}; 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.;
UniProtKB/Swiss-Prot CatalyticActivity: A hydroperoxy icosatetraenoate = a hydroxy epoxy icosatrienoate
UniProtKB/Swiss-Prot CatalyticActivity: A hydroperoxy icosatetraenoate = an oxoicosatetraenoate + H(2)O
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ALOXE3 Gene

Gene Ontology (GO) - Molecular Function for ALOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 22622417
GO:0016702 NOT oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA 12881489
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding --
genes like me logo Genes that share ontologies with ALOXE3: view
genes like me logo Genes that share phenotypes with ALOXE3: view

Animal Models for ALOXE3 Gene

MGI Knock Outs for ALOXE3:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALOXE3

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ALOXE3 Gene

Localization for ALOXE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALOXE3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALOXE3 Gene COMPARTMENTS Subcellular localization image for ALOXE3 gene
Compartment Confidence
cytosol 3
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for ALOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ALOXE3: view

Pathways for ALOXE3 Gene

genes like me logo Genes that share pathways with ALOXE3: view

Pathways by source for ALOXE3 Gene

1 GeneGo (Thomson Reuters) pathway for ALOXE3 Gene

UniProtKB/Swiss-Prot Q9BYJ1-LOXE3_HUMAN

  • Pathway: Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis
  • Pathway: Lipid metabolism; sphingolipid metabolism

Gene Ontology (GO) - Biological Process for ALOXE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process IDA 21558561
GO:0019233 sensory perception of pain ISS --
GO:0019369 arachidonic acid metabolic process IDA 12881489
GO:0019372 lipoxygenase pathway IDA 20921226
GO:0035357 peroxisome proliferator activated receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with ALOXE3: view

Compounds for ALOXE3 Gene

(1) HMDB Compounds for ALOXE3 Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6

(3) Novoseek inferred chemical compound relationships for ALOXE3 Gene

Compound -log(P) Hits PubMed IDs
12(r)-hpete 97.8 3
arachidonic acid 55.6 3
lipid 10.2 1
genes like me logo Genes that share compounds with ALOXE3: view

Transcripts for ALOXE3 Gene

mRNA/cDNA for ALOXE3 Gene

(14) Selected AceView cDNA sequences:
(9) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALOXE3 Gene

Arachidonate lipoxygenase 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ALOXE3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ALOXE3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALOXE3 Gene

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

Relevant External Links for ALOXE3 Gene

GeneLoc Exon Structure for
ALOXE3
ECgene alternative splicing isoforms for
ALOXE3

Expression for ALOXE3 Gene

mRNA expression in normal human tissues for ALOXE3 Gene

mRNA differential expression in normal tissues according to GTEx for ALOXE3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (26.0) and Skin - Not Sun Exposed (Suprapubic) (18.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ALOXE3 Gene

SOURCE GeneReport for Unigene cluster for ALOXE3 Gene Hs.232770

mRNA Expression by UniProt/SwissProt for ALOXE3 Gene

Q9BYJ1-LOXE3_HUMAN
Tissue specificity: Predominantly expressed in skin
genes like me logo Genes that share expressions with ALOXE3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ALOXE3 Gene

Orthologs for ALOXE3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALOXE3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALOXE3 35
  • 95.41 (n)
  • 93.94 (a)
ALOXE3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALOXE3 35
  • 89.03 (n)
  • 89.17 (a)
ALOXE3 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALOXE3 35
  • 88.75 (n)
  • 88.61 (a)
ALOXE3 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aloxe3 35
  • 86.36 (n)
  • 88.47 (a)
Aloxe3 16
Aloxe3 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALOXE3 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 49 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Aloxe3 35
  • 85.75 (n)
  • 87.76 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 48 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
-- 36
  • 54 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
-- 36
  • 49 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494252 35
  • 57.81 (n)
  • 50.6 (a)
zebrafish
(Danio rerio)
Actinopterygii ALOXE3 36
  • 39 (a)
OneToMany
si:dkey-17e16.9 35
  • 52.09 (n)
  • 47.09 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
CSA.6148 36
  • 30 (a)
ManyToMany
Species with no ortholog for ALOXE3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALOXE3 Gene

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

Paralogs for ALOXE3 Gene

Paralogs for ALOXE3 Gene

Selected SIMAP similar genes for ALOXE3 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ALOXE3 Gene

genes like me logo Genes that share paralogs with ALOXE3: view

Variants for ALOXE3 Gene

Sequence variations from dbSNP and Humsavar for ALOXE3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs732966 -- 8,100,524(+) tgtct(A/G)tagtt intron-variant
rs894505 -- 8,112,261(+) TGTGT(C/G)CCCCT intron-variant
rs894506 -- 8,100,803(-) CTACA(A/G)TTTTA intron-variant
rs959522 -- 8,101,921(-) GGCTC(A/G)TGCCT intron-variant
rs959523 -- 8,102,148(-) CCTGT(A/G)GCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALOXE3 Gene

Variant ID Type Subtype PubMed ID
nsv833352 CNV Loss 17160897
nsv907657 CNV Loss 21882294
nsv518133 CNV Loss 19592680
nsv457661 CNV Loss 19166990
nsv523885 CNV Loss 19592680
esv2715609 CNV Deletion 23290073
nsv112429 CNV Insertion 16902084
esv22594 CNV Gain 19812545
nsv514860 CNV Complex 21397061

Relevant External Links for ALOXE3 Gene

HapMap Linkage Disequilibrium report
ALOXE3
Human Gene Mutation Database (HGMD)
ALOXE3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALOXE3 Gene

Disorders for ALOXE3 Gene

(1) OMIM Diseases for ALOXE3 Gene (607206)

UniProtKB/Swiss-Prot

LOXE3_HUMAN
  • 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. {ECO:0000269 PubMed:11773004, ECO:0000269 PubMed:16116617, ECO:0000269 PubMed:19131948, ECO:0000269 PubMed:19890349}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ALOXE3 Gene

(3) Novoseek inferred disease relationships for ALOXE3 Gene

Disease -log(P) Hits PubMed IDs
congenital ichthyosis 95.1 2
ichthyosiform erythroderma congenital 91.7 4
ichthyosis 89.3 4

Relevant External Links for ALOXE3

GeneTests
ALOXE3
GeneReviews
ALOXE3
Genetic Association Database (GAD)
ALOXE3
Human Genome Epidemiology (HuGE) Navigator
ALOXE3
genes like me logo Genes that share disorders with ALOXE3: view

Publications for ALOXE3 Gene

  1. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (PMID: 19131948) Eckl K.M. … Hennies H.C. (J. Invest. Dermatol. 2009) 3 4 23 48
  2. Human and mouse eLOX3 have distinct substrate specificities: implications for their linkage with lipoxygenases in skin. (PMID: 17045234) Yu Z. … Brash A.R. (Arch. Biochem. Biophys. 2006) 3 4 23
  3. A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression. (PMID: 11350124) Krieg P. … Fuerstenberger G. (Genomics 2001) 3 4 23
  4. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. (PMID: 11773004) Jobard F. … Fischer J. (Hum. Mol. Genet. 2002) 3 4 23
  5. Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. (PMID: 15629692) Yu Z. … Brash A.R. (Biochim. Biophys. Acta 2005) 3 4 23

Products for ALOXE3 Gene

Sources for ALOXE3 Gene

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