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  2. ALOXE3 - arachidonate lipoxygenase 3 Gene

ALOXE3 - arachidonate lipoxygenase 3 Gene

中文名称:花生四烯酸脂氧合酶 3

种属: Homo sapiens

同用名: ARCI3; E-LOX; eLOX3; eLOX-3

基因 ID: 59344 | 基因类型: protein coding

关于 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).

功能概要

该基因是脂氧合酶家族的成员,可被花生四烯酸衍生的化合物分解代谢。编码的酶是一种氢过氧化物异构酶,可从 12R-氢过氧二十碳四烯酸 (12R-HPETE) 合成一种独特类型的环氧醇 (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) 。这种环氧醇可以激活与表皮分化有关的核受体过氧化物酶体增殖物激活受体α (PPARalpha) 。由该基因编码的酶的功能丧失导致鱼鳞病,表明该基因在人类皮肤分化中的功能。该基因是 17p13.1 上脂氧合酶基因簇的一部分。该基因的突变会导致非大疱性先天性鱼鳞病样红皮病 (NCIE) 。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in arachidonate metabolic process IDA
IDA: 通过直接分析推断
12881489 GOA
involved in hepoxilin biosynthetic process IDA
IDA: 通过直接分析推断
12881489 GOA
involved in linoleic acid metabolic process IDA
IDA: 通过直接分析推断
12881489 GOA
involved in lipoxygenase pathway IDA
IDA: 通过直接分析推断
20921226 GOA
involved in sphingolipid metabolic process IDA
IDA: 通过直接分析推断
21558561 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ALOXE3 蛋白结构

PLAT

PLAT: PLAT/LH2 domain (4 - 109)

Lipoxygenase

Lipoxygenase: Lipoxygenase (252 - 702)

  • 0
  • 200
  • 400
  • 600
  • 711 a.a.
蛋白主名 其他名称

hydroperoxide isomerase ALOXE3

Epidermal lipoxygenase-3

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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