ALOXE3 - arachidonate lipoxygenase 3 Gene

Also Known as ARCI3; E-LOX; eLOX3; eLOX-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 59344

About ALOXE3

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,095,900-8,118,916 (from NCBI)

This gene has 4 transcripts (splice variants), 374 orthologues, 5 paralogues and is associated with 6 phenotypes. Restricted expression toward skin (RPKM 14.1).

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]

ALOXE3 Products (3)

mRNA	Protein	Name
NM_001165960.1	NP_001159432.1	hydroperoxide isomerase ALOXE3 isoform 1
NM_001369446.1	NP_001356375.1	hydroperoxide isomerase ALOXE3 isoform 3
NM_021628.3	NP_067641.2	hydroperoxide isomerase ALOXE3 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables hepoxilin A3 synthase activity	IDA IDA: Inferred from direct assay	12881489	GOA
enables intramolecular hydroxytransferase activity	IDA IDA: Inferred from direct assay	20923767	GOA
NOT enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA IDA: Inferred from direct assay	12881489	GOA
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA IDA: Inferred from direct assay	20921226	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in arachidonate metabolic process	IDA IDA: Inferred from direct assay	12881489	GOA
involved in hepoxilin biosynthetic process	IDA IDA: Inferred from direct assay	12881489	GOA
involved in linoleic acid metabolic process	IDA IDA: Inferred from direct assay	12881489	GOA
involved in lipoxygenase pathway	IDA IDA: Inferred from direct assay	20921226	GOA
involved in sphingolipid metabolic process	IDA IDA: Inferred from direct assay	21558561	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALOXE3 Protein Structure

PLAT

Lipoxygenase

0
200
400
600
711 a.a.

Protein Preferred Names	Protein Names
hydroperoxide isomerase ALOXE3	Epidermal lipoxygenase-3

Related Diseases

Diseases	Alias
Ichthyosis, Congenital, Autosomal Recessive 3	Autosomal Recessive Congenital Ichthyosis 3 ARCI3 Lamellar Ichthyosis 5 Collodion Baby, Self-Healing Ichthyosis, Lamellar, 5, Formerly Li5, Formerly Li5 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive, Type 3
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Ichthyosis, Congenital, Autosomal Recessive 2	Autosomal Recessive Congenital Ichthyosis 2 ARCI2 Ncie1 Ichthyosiform Erythroderma, Congenital Collodion Baby, Self-Healing Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly Ncie1, Formerly Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form Nonbullous Congenital Ichthyosiform Erythroderma 1 Cie Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form Iecn1 Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive, Type 2 Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Self-Improving Collodion Baby	Self-Healing Collodion Baby Shcb Sici Self-Improving Congenital Ichthyosis
Ichthyosis, Congenital, Autosomal Recessive 1	Collodion Fetus Autosomal Recessive Congenital Ichthyosis 1 ARCI1 Ichthyosis Congenita Lamellar Exfoliation Of Newborn Desquamation Of Newborn Ichthyosis Congenita Ii Shcb Icr2 Bathing Suit Ichthyosis Li1 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution Collodion Baby, Self-Healing Ichthyosis, Lamellar, 1, Formerly Li1, Formerly Ichthyosis Lamellar 1 Lamellar Ichthyosis, Type 1 Bsi Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution Autosomal Recessive Congenital Ichthyosis Tgm1-Related Lamellar Ichthyosis 1 Non-Erythrodermic Ichthyosis Ichthyosis, Congenital, Autosomal Recessive, Type 1 Congenital Ichthyosis
Trichothiodystrophy 1, Photosensitive	TTD1 Tay Syndrome Trichothiodystrophy With Congenital Ichthyosis Photosensitive Trichothiodystrophy Ibids Syndrome Ttdp Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation Ichthyosis, Congenital, With Trichothiodystrophy Pibids Syndrome Photosensitive Trichothiodystrophy 1 Trichothiodystrophy, Photosensitive Sulfur-Deficient Brittle Hair Syndrome Ttd-P Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature Trichothiodystrophy Photosensitive Trichothiodystrophy, Type 1 Tricho-Thiodystrophy Disorder Trichothiodystrophy Syndromes Amish Brittle Hair Brain Syndrome
Ichthyosis, Congenital, Autosomal Recessive 4b	Harlequin Ichthyosis Autosomal Recessive Congenital Ichthyosis 4b Hi Harlequin Fetus ARCI4B Ichthyosis Congenita, Harlequin Fetus Type Harlequin Type Ichthyosis 'Harlequin Fetus' Harlequin Type Ichthyosis Congenita Harlequin Type Ichthyosis Fetalis Harlequin Baby Syndrome Ichthyosis Congenita, Harlequin Type Ichthyosis Fetalis, Harlequin Type Ichthyosis Congenita Harlequin Fetus Type Ichthyosis, Harlequin Ichthyosis, Congenital, Autosomal Recessive, Type 4b
Ichthyosis, Congenital, Autosomal Recessive 7	ARCI7 Autosomal Recessive Congenital Ichthyosis 7
Tinea Profunda	Deep Seated Dermatophytosis Granuloma Trichophyticum Majocchi'S Granuloma
Epidermolytic Hyperkeratosis	Bullous Congenital Ichthyosiform Erythroderma Bullous Ichthyosiform Erythroderma EHK Bullous Erythroderma Ichthyosiformis Congenita Of Brocq Bcie Bie Epidermolytic Ichthyosis Ichthyosis Bullosa Of Siemens Superficial Epidermolytic Ichthyosis Hyperkeratosis, Epidermolytic Congenital Bullous Ichthyosiform Erythroderma Bullous Type Ichthyosis Epidermolytic Palmoplantar Hyperkeratosis Bullous Ichthyosiform Erythroderma Congenita Bullous Erythroderma Ichthyosiforme Sei Epidermolytic Hyperkeratosis Late-Onset Epidermolytic Hyperkeratosis, Late-Onset
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
X-Linked Chondrodysplasia Punctata 2	Happle Syndrome Cdpx2 Conradi-Hünermann Syndrome Chondrodysplasia Punctata 2, X-Linked X-Linked Dominant Chondrodysplasia Punctata Conradi-Hunermann Syndrome Conradi-Hünermann-Happle Syndrome Cdpxd Cpxd Chondrodystrophia Calcificans Congenita Conradi-Hunermann-Happle Syndrome X-Linked Chondrodysplasia Punctata Type 2 Chondrodysplasia Punctata, X-Linked Dominant Type
Eyelid Disease	Eyelid Diseases Eyelid Disorders
Ichthyosis, X-Linked	X-Linked Ichthyosis Steroid Sulfatase Deficiency Placental Steroid Sulfatase Deficiency Steroid Sulfatase Deficiency Disease XLI Sts Deficiency Ssdd X-Linked Recessive Ichthyosis X-Linked Ichthyosis With Steryl-Sulphatase Deficiency X-Linked Placental Steryl-Sulphatase Deficiency Ssd X Linked Ichthyosis Recessive X-Linked Ichthyosis Rxli Syndromic Recessive X-Linked Ichthyosis Recessive X-Linked Ichthyosis With Extracutaneous Manifestations Syndromic Rxli X-Linked Ichthyosis Syndrome IXL Ichthyosis X-Linked Sex-Linked Ichthyosis X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
Ichthyosis Vulgaris	Ichthyosis Simplex Dominant Congenital Ichthyosiform Erythroderma Common Ichthyosis Fish Scale Disease VI Ichthyoses Congenital Ichthyosis
Peeling Skin Syndrome	Deciduous Skin Familial Continuous Skin Peeling Syndrome Idiopathic Deciduous Skin Keratosis Exfoliativa Congenita Pss Peeling Skin Disease Skin Peeling Syndrome Familial Continuous Skin Peeling Keratolysis Exfoliativa Congenita Exfoliation Syndrome Keratolysis Exfoliativa
Chanarin-Dorfman Syndrome	Neutral Lipid Storage Disease CDS Neutral Lipid Storage Disease With Ichthyosis Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation Triglyceride Storage Disease With Ichthyosis Nlsdi Ichthyotic Neutral Lipid Storage Disease Dorfman-Chanarin Syndrome Dcs Chanarin-Dorfman Disease Ichthyosiform Erythroderma With Leukocyte Vacuolation Lipidosis With Triglyceride Storage Disease Disorder Of Cornification 12 Dorfman Chanarin Syndrome Neutral Lipid Storage Disease With Ichthyotic Dorfman-Chanarin Disease
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00626	ALOXE3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ALOXE3	RGD	RGD:1306252
Macaca mulatta	ALOXE3	VGNC	VGNC:69607
Felis catus	ALOXE3	VGNC	VGNC:59758
Canis familiaris	ALOXE3	VGNC	VGNC:37814
Bos taurus	ALOXE3	VGNC	VGNC:25846
Mus musculus	ALOXE3	MGD	MGI:1345140