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ALOXE3 arachidonate epidermal lipoxygenase 3 [ Homo sapiens (human) ]

Gene ID: 59344, updated on 14-Nov-2024

Summary

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Official Symbol
ALOXE3provided by HGNC
Official Full Name
arachidonate epidermal lipoxygenase 3provided by HGNC
Primary source
HGNC:HGNC:13743
See related
Ensembl:ENSG00000179148 MIM:607206; AllianceGenome:HGNC:13743
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LI5; ARCI3; E-LOX; eLOX3; eLOX-3
Summary
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]
Expression
Restricted expression toward skin (RPKM 14.1) See more
Orthologs
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Genomic context

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See ALOXE3 in Genome Data Viewer
Location:
17p13.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8095900..8118916, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8001351..8024291, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7999218..8022234, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene arachidonate 12-lipoxygenase, 12R type Neighboring gene uncharacterized LOC107985075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7990062-7990810 Neighboring gene microRNA 4314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8151 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8153 Neighboring gene tRNA-Lys (anticodon TTT) 3-5 Neighboring gene tRNA-Gln (anticodon CTG) 1-5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity. Gao MM, et al. Brain Res Bull, 2021 May. PMID 33581311
  2. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Krebsová A, et al. Am J Hum Genet, 2001 Jul. PMID 11398099, Free PMC Article
  3. Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia. Sugiura K, et al. Acta Derm Venereol, 2015 Sep. PMID 25423909
  4. Characterization of Epidermal Lipoxygenase Expression in Normal Human Skin and Tissue-Engineered Skin Substitutes. Simard-Bisson C, et al. J Histochem Cytochem, 2018 Nov. PMID 29985723, Free PMC Article
  5. Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families. Rahman SB, et al. Congenit Anom (Kyoto), 2019 May. PMID 29935003, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity.
    Title: The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity.
  2. Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
    Title: Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
  3. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
    Title: Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
  4. Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
    Title: Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.
  5. Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families has been reported.
    Title: Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.
  6. Study found that DNA methylation at cg25365794 in ALOXE3 gene is associated with urinary 8-isoprostane levels and with specific cancer outcomes. Whoever, the association between urinary 8-isoprostane levels and DNA methylation at the ALOXE3 gene may not be causal.
    Title: The associations of DNA methylation alterations in oxidative stress-related genes with cancer incidence and mortality outcomes: a population-based cohort study.
  7. Case Report: ALOXE3 mutation causing congenital ichthyosis and recurrent eczema.
    Title: Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.
  8. In summary, we have identified three novel sequence variants, one in TGM1 and two in ALOXE3, in three consanguineous families segregating lamellar ichthyosis and congenital ichthyosiform erythroderma types of autosomal recessive congenital ichthyosis.
    Title: Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
  9. Case Report: homozygous ALOXE3 mutation causing autosomal recessive congenital ichthyosis.
    Title: Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.
  10. Loss-of-function mutations in the LOX genes ALOX12B and ALOXE3 have been found to represent the second most common cause of autosomal recessive congenital ichthyosis. [review]
    Title: The role of lipoxygenases in epidermis.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC119694, MGC119695, MGC119696

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hepoxilin A3 synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hepoxilin A3 synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hepoxilin A3 synthase activity TAS
Traceable Author Statement
more info
  
enables hydroperoxy icosatetraenoate dehydratase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydroperoxy icosatetraenoate isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables intramolecular hydroxytransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
NOT enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in arachidonate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in arachidonate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ceramide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in establishment of skin barrier ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in hepoxilin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in hepoxilin biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in linoleic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in linoleic acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid oxidation IEA
Inferred from Electronic Annotation
more info
  
involved_in lipoxygenase pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipoxygenase pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipoxygenase pathway TAS
Traceable Author Statement
more info
  
involved_in peroxisome proliferator activated receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sphingolipid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
hydroperoxide isomerase ALOXE3
Names
Epidermal lipoxygenase-3
Lamellar ichthyosis 5
arachidonate lipoxygenase 3
e-LOX-3
epidermal LOX-3
epidermal lipoxygenase
epidermis-type lipoxygenase 3
hydroperoxy dehydratase ALOXE3
hydroperoxy icosatetraenoate dehydratase
hydroperoxy icosatetraenoate isomerase
NP_001159432.1
NP_001356375.1
NP_067641.2
XP_016880410.1
XP_016880411.1
XP_016880412.1
XP_016880413.1
XP_016880414.1
XP_047292466.1
XP_047292467.1
XP_054172822.1
XP_054172823.1
XP_054172824.1
XP_054172825.1
XP_054172826.1
XP_054172827.1
XP_054172828.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015807.1 RefSeqGene

    Range
    5403..28017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165960.1 → NP_001159432.1  hydroperoxide isomerase ALOXE3 isoform 1

    See identical proteins and their annotated locations for NP_001159432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF182218, AK296416, DC376381
    UniProtKB/TrEMBL
    J3KPH2
    Conserved Domains (2) summary
    cd01753
    Location:134 → 248
    PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...
    pfam00305
    Location:400 → 834
    Lipoxygenase; Lipoxygenase

  2. NM_001369446.1 → NP_001356375.1  hydroperoxide isomerase ALOXE3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC129492
    UniProtKB/TrEMBL
    B3KVD2
    Conserved Domains (2) summary
    cd01753
    Location:2 → 116
    PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...
    pfam00305
    Location:267 → 701
    Lipoxygenase

  3. NM_021628.3 → NP_067641.2  hydroperoxide isomerase ALOXE3 isoform 2

    See identical proteins and their annotated locations for NP_067641.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF182218, AK313677, DA183156
    Consensus CDS
    CCDS11130.1
    UniProtKB/Swiss-Prot
    B2R981, B7Z3W0, Q3ZB74, Q9BYJ1, Q9H4F2, Q9HC22
    UniProtKB/TrEMBL
    B3KVD2
    Related
    ENSP00000400581.2, ENST00000448843.7
    Conserved Domains (2) summary
    cd01753
    Location:2 → 116
    PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...
    cl27717
    Location:268 → 702
    Lipoxygenase; Lipoxygenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8095900..8118916 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436510.1 → XP_047292466.1  hydroperoxide isomerase ALOXE3 isoform X3

  2. XM_017024921.3 → XP_016880410.1  hydroperoxide isomerase ALOXE3 isoform X1

    UniProtKB/TrEMBL
    B3KVD2

  3. XM_017024922.3 → XP_016880411.1  hydroperoxide isomerase ALOXE3 isoform X2

  4. XM_047436511.1 → XP_047292467.1  hydroperoxide isomerase ALOXE3 isoform X5

  5. XM_017024924.3 → XP_016880413.1  hydroperoxide isomerase ALOXE3 isoform X5

  6. XM_017024923.3 → XP_016880412.1  hydroperoxide isomerase ALOXE3 isoform X4

    UniProtKB/TrEMBL
    A0AAQ5BHH1
    Related
    ENSP00000519433.1, ENST00000714144.1

  7. XM_017024925.3 → XP_016880414.1  hydroperoxide isomerase ALOXE3 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8001351..8024291 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316849.1 → XP_054172824.1  hydroperoxide isomerase ALOXE3 isoform X3

  2. XM_054316847.1 → XP_054172822.1  hydroperoxide isomerase ALOXE3 isoform X1

  3. XM_054316848.1 → XP_054172823.1  hydroperoxide isomerase ALOXE3 isoform X2

  4. XM_054316852.1 → XP_054172827.1  hydroperoxide isomerase ALOXE3 isoform X5

  5. XM_054316851.1 → XP_054172826.1  hydroperoxide isomerase ALOXE3 isoform X5

  6. XM_054316850.1 → XP_054172825.1  hydroperoxide isomerase ALOXE3 isoform X4

    UniProtKB/TrEMBL
    A0AAQ5BHH1

  7. XM_054316853.1 → XP_054172828.1  hydroperoxide isomerase ALOXE3 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYJ1.1 GenPept UniProtKB/Swiss-Prot:Q9BYJ1

Gene LinkOut

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