Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	59344
Gene name	Arachidonate epidermal lipoxygenase 3
Gene symbol	ALOXE3
Synonyms (NCBI Gene)	ARCI3E-LOXLI5eLOX-3eLOX3
Chromosome	17
Chromosome location	17p13.1
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-trieno

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434232	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434233	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs121434234	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs139375856	T>C	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs141340759	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs147149459	G>A	Pathogenic	Missense variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs370031870	G>A,T	Pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs745480657	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs765682032	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs781631629	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, downstream transcript variant
rs786205120	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1296095311	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1311967606	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs1355284797	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1567999245	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1568005543	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598209965	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments
MIRT778925	hsa-miR-1255a	CLIP-seq
MIRT778926	hsa-miR-1255b	CLIP-seq
MIRT778927	hsa-miR-2110	CLIP-seq
MIRT778928	hsa-miR-3126-5p	CLIP-seq
MIRT778929	hsa-miR-3150a-3p	CLIP-seq
MIRT778930	hsa-miR-3175	CLIP-seq
MIRT778931	hsa-miR-3605-5p	CLIP-seq
MIRT778932	hsa-miR-4419a	CLIP-seq
MIRT778933	hsa-miR-4510	CLIP-seq
MIRT778934	hsa-miR-4535	CLIP-seq
MIRT778935	hsa-miR-4659a-3p	CLIP-seq
MIRT778936	hsa-miR-4659b-3p	CLIP-seq
MIRT778937	hsa-miR-4776-5p	CLIP-seq
MIRT778938	hsa-miR-492	CLIP-seq
MIRT778939	hsa-miR-939	CLIP-seq
MIRT1929926	hsa-miR-647	CLIP-seq
MIRT778925	hsa-miR-1255a	CLIP-seq
MIRT778926	hsa-miR-1255b	CLIP-seq
MIRT778927	hsa-miR-2110	CLIP-seq
MIRT778928	hsa-miR-3126-5p	CLIP-seq
MIRT778929	hsa-miR-3150a-3p	CLIP-seq
MIRT778930	hsa-miR-3175	CLIP-seq
MIRT778931	hsa-miR-3605-5p	CLIP-seq
MIRT778932	hsa-miR-4419a	CLIP-seq
MIRT778933	hsa-miR-4510	CLIP-seq
MIRT778939	hsa-miR-939	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IDA	21558561
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	12881489
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	20921226, 20923767
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019233	Process	Sensory perception of pain	ISS
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0019369	Process	Arachidonate metabolic process	IDA	12881489, 17045234
GO:0019369	Process	Arachidonate metabolic process	IEA
GO:0019372	Process	Lipoxygenase pathway	IBA
GO:0019372	Process	Lipoxygenase pathway	IDA	20921226
GO:0019372	Process	Lipoxygenase pathway	TAS
GO:0034440	Process	Lipid oxidation	IEA
GO:0035357	Process	Peroxisome proliferator activated receptor signaling pathway	IEA
GO:0035357	Process	Peroxisome proliferator activated receptor signaling pathway	ISS
GO:0043651	Process	Linoleic acid metabolic process	IBA
GO:0043651	Process	Linoleic acid metabolic process	IDA	12881489, 17045234
GO:0043651	Process	Linoleic acid metabolic process	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050486	Function	Intramolecular hydroxytransferase activity	IDA	20923767, 21558561
GO:0051122	Process	Hepoxilin biosynthetic process	IBA
GO:0051122	Process	Hepoxilin biosynthetic process	IDA	12881489, 17045234
GO:0051122	Process	Hepoxilin biosynthetic process	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0106255	Function	Hydroperoxy icosatetraenoate isomerase activity	IBA
GO:0106255	Function	Hydroperoxy icosatetraenoate isomerase activity	IDA	12881489, 17045234
GO:0106255	Function	Hydroperoxy icosatetraenoate isomerase activity	IEA
GO:0106255	Function	Hydroperoxy icosatetraenoate isomerase activity	TAS
GO:0106256	Function	Hydroperoxy icosatetraenoate dehydratase activity	IEA

MIM	HGNC	e!Ensembl
607206	13743	ENSG00000179148

Q9BYJ1

Protein name

Hydroperoxide isomerase ALOXE3 (Epidermis-type lipoxygenase 3) (Epidermal LOX-3) (e-LOX-3) (eLOX-3) (Hydroperoxy dehydratase ALOXE3) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152) (Hydroperoxy icosatetraenoate isomerase) (EC 5.4.4.7)

Protein function

Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity (PubMed:12881489, PubMed:17045234, PubMed:20921226, PubMed:20923767). The hydroperoxide

PDB

6VB2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01477	PLAT	4 → 113	PLAT/LH2 domain	Domain
PF00305	Lipoxygenase	211 → 697	Lipoxygenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in skin.

Sequence

MAVYRLCVTTGPYLRAGTLDNISVTLVGTCGESPKQRLDRMGRDFAPGSVQKYKVRCTAE
LGELLLLRVHKERYAFFRKDSWYCSRICVTEPDGSVSHFPCYQWIEGYCTVELRPGTART
ICQDSLPLLLDHRTRELRARQECYRWKIYAPGFPCMVDVNSFQEMESDKKFALTKTTTCV
DQGDSSGNRYLPGFPMKIDIPSLMYMEPNVRYSATKTISLLFNAIPASLGMKLRGLLDRK
GSWKKLDDMQNIFWCHKTFTTKYVTEHWCEDHFFGYQYLNGVNPVMLHCISSLPSKLPVT
NDMVAPLLGQDTCLQTELERGNIFLADYWILAEAPTHCLNGRQQYVAAPLCLLWLSPQGA
LVPLAIQLSQTPGPDSPIFLPTDSEWDWLLAKTWVRNSEFLVHENNTHFLCTHLLCEAFA
MATLRQLPLCHPIYKLLLPHTRYTLQVNTIARATLLNPEGLVDQVTSIGRQGLIYLMSTG
LAHFTYTNFCLPDSLRARGVLAIPNYHYRDDGLKIWAAIESFVSEIVGYYYPSDASVQQD
SELQAWTGEIFAQAFLGRESSGFPSRLCTPGEMVKFLTAIIFNCSAQHAAVNSGQHDFGA
WMPNAPSSMRQPPPQTKGTTTLKTYLDTLPEVNISCNNLLLFWLVSQEPKDQRPLGTYPD
EHFTEEAPRRSIAAFQSRLAQISRDIQERNQGLALPYTYLDPPLIENSVSI

Sequence length

711

Interactions

View interactions

	KEGG		Reactome
	Arachidonic acid metabolism Metabolic pathways		Synthesis of 12-eicosatetraenoic acid derivatives

168

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALOXE3-related disorder	Pathogenic	rs121434233, rs147149459, rs141340759	RCV003944796 RCV003920029 RCV003398653
Autosomal recessive congenital ichthyosis	Pathogenic	rs147149459	RCV000615069
Autosomal recessive congenital ichthyosis 2	Pathogenic; Likely pathogenic	rs121434233, rs777240858, rs1311967606, rs1296095311, rs765682032, rs1568005543	RCV005357068 RCV005356403 RCV000782398 RCV000782397 RCV000782396 RCV000782395
Autosomal recessive congenital ichthyosis 3	Pathogenic; Likely pathogenic	rs2151838171, rs754701941, rs121434232, rs121434233, rs121434234, rs370031870, rs1415942704, rs147149459, rs777240858, rs139375856, rs786205120, rs745480657, rs1355284797, rs1296095311, rs765682032 View all (25 more)	RCV001783428 RCV001785913 RCV000003576 RCV000003577 RCV000003578 RCV000201260 RCV003147012 RCV000032747 RCV003333496 RCV001289477 RCV000032746 RCV000032748 RCV000032749 RCV001289504 RCV002470977 RCV001289484 RCV001249459 RCV001262620 RCV001289498 RCV001289490 RCV001289482 RCV001289481 RCV001289499 RCV001289485 RCV001289494 RCV001289501 RCV001289476 RCV001289502 RCV001289492 RCV001289495 RCV001289479 RCV001289487 RCV001289493 RCV001289478 RCV001289483 RCV001289480 RCV001289500 RCV001289491 RCV001289488 RCV001289486
Congenital nonbullous ichthyosiform erythroderma	Pathogenic	rs781631629	RCV001849396
Ichthyosis	Pathogenic	rs370031870	RCV000755138
Lamellar ichthyosis	Pathogenic; Likely pathogenic	rs370031870, rs141115577, rs147149459, rs781631629, rs1311967606, rs1296095311, rs764781178	RCV002469062 RCV003226839 RCV001844106 RCV001291298 RCV003117573 RCV004768646 RCV002282503
Trichohepatoenteric syndrome 2	Pathogenic	rs764781178	RCV005861223

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs3027205	RCV005894717
Congenital ichthyosiform erythroderma	Uncertain significance; Benign	rs144069104, rs58194728	RCV000396044 RCV000328666
Familial cancer of breast	Benign	rs151256885	RCV005894135
Ichthyosis and erythrokeratoderma	Conflicting classifications of pathogenicity	rs142781546	RCV006275882
Malignant tumor of esophagus	Benign	rs151256885, rs3027205	RCV005894136 RCV005894716
Ovarian serous cystadenocarcinoma	Benign	rs3027205	RCV005894718

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alopecia	Associate	26370990
Hyperkeratosis Epidermolytic	Associate	26370990, 29935003
Ichthyosiform Erythroderma Congenital	Associate	27025581
Ichthyosis	Associate	27025581
Lamellar ichthyosis type 3	Associate	17139268, 19131948, 26578203, 30600594
Prostatic Neoplasms	Associate	30678711
Self Healing Collodion Baby	Associate	19890349
Skin Diseases	Associate	26370990, 29130490
Trichophyton infection	Associate	26370990

ALOXE3 (arachidonate epidermal lipoxygenase 3)