2. Gene
  3. LOXL3 - lysyl oxidase like 3 Gene

LOXL3 - lysyl oxidase like 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：赖氨酰氧化酶样 3

种属: Homo sapiens

同用名: LOXL; MYP28

基因 ID: 84695 | 基因类型: protein coding

关于 LOXL3

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,532,258-74,555,702 (from NCBI)

This gene has 10 transcripts (splice variants), 219 orthologues, 15 paralogues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 7.6), bone marrow (RPKM 5.2) and 24 other tissues.

功能概要

该基因编码一种赖氨酰氧化酶，它可能起胺氧化酶的作用，并在胶原蛋白和弹性蛋白的交联形成中发挥作用。小鼠相关基因的缺失会导致新生儿死亡，并伴有腭裂、脊柱畸形和胶原组织缺陷。在一个患有斯蒂克勒综合征的家族中发现了该基因的突变。[RefSeq 提供，2016 年 9 月]

This gene encodes a Lysyl Oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in Collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]

LOXL3 基因产物(3)

mRNA Protein Name
NM_001289164.3 NP_001276093.1 lysyl oxidase homolog 3 isoform 2 precursor
NM_001289165.2 NP_001276094.1 lysyl oxidase homolog 3 isoform 3
NM_032603.5 NP_115992.1 lysyl oxidase homolog 3 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16096638 GOA
enables protein-lysine 6-oxidase activity IDA
IDA: 通过直接分析推断
28065600 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in epithelial to mesenchymal transition IDA
IDA: 通过直接分析推断
16096638 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
16096638 GOA
involved in negative regulation of T-helper 17 cell lineage commitment IDA
IDA: 通过直接分析推断
28065600 GOA
involved in peptidyl-lysine oxidation IDA
IDA: 通过直接分析推断
28065600 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
28065600 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
11284725 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28065600 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

LOXL3 蛋白结构

SRCR

SRCR: Scavenger receptor cysteine-rich domain (52 - 145)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (185 - 281)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (311 - 407)

SRCR

SRCR: Scavenger receptor cysteine-rich domain (421 - 525)

Lysyl_oxidase

Lysyl_oxidase: Lysyl oxidase (529 - 732)

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

lysyl oxidase homolog 3

lysyl oxidase-like protein 3

LOXL3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
LOXL3 P58215 Adamtsl2 Mus musculus Q7TSK7
Anti Tag CoIP
29758265
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Myopia 28, Autosomal Recessive

MYP28
3-Methylglutaconic Aciduria, Type Viii

3-Methylglutaconic Aciduria Type 8

MGCA8

3-Methylglutaconic Aciduria Type Viii, Mgca8

Mga8

3-Methylglutaconic Aciduria 8

3-Methylglutaconic Aciduria, Type Vii
Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1
Autosomal Recessive Stickler Syndrome
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Weissenbacher-Zweymuller Syndrome

Wzs

Pierre Robin Syndrome With Fetal Chondrodysplasia

OSMEDA

Weissenbacher-Zweymüller Syndrome

Heterozygous Osmed

Stickler Syndrome, Type 3

Osmed, Heterozygous

Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly

Stickler Syndrome, Type Iii, Formerly

Stl3, Formerly

Piere-Robin Syndrome

Pierre Robin Malformation

Heterozygous Otospondylomegaepiphyseal Dysplasia

Autosomal Dominant Otospondylomegaepiphyseal Dysplasia

Ad Osmed

Stickler Syndrome Type 3

Stickler Syndrome, Non-Ocular Type

Stickler-Like Syndrome

Stickler Syndrome 3

Stickler Syndrome Non-Ocular Type

Stickler Syndrome Type Iii

Stl3

Weissenbacher-Zweymueller Syndrome

Stickler Syndrome, Type Iii

Pierre Robin Syndrome

Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant
Ritscher-Schinzel Syndrome 1

3c Syndrome

Craniocerebellocardiac Dysplasia

RTSC1

Dandy-Walker-Like Malformation With Atrioventricular Septal Defect

Dandy-Walker Like Malformation With Atrioventricular Septal Defect

Cranio-Cerebello-Cardiac Dysplasia

Dandy-Walker-Like Malformation With Asd

Ritscher Schinzel Syndrome

Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome

Ritscher-Schinzel Syndrome

3c
Marshall Syndrome

MRSHS

Deafness, Myopia, Cataract, Saddle Nose-Marshall Type

Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis

Pfapa Syndrome

Pfapa

Marshall Syndrome With Periodic Fever

Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
Fibrochondrogenesis

Fbcg1

Fbcg2

Fibrochondrogenesis-1

Fibrochondrogenesis-2

Fibrochondrogenesis 1

Fibrochondrogenesis 2
Orofacial Cleft

Cleft, Orofacial
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

相关产品

Pre-clinical Phase
生物活性分子 (9)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-114286A PXS-5153A monohydrochloride Inhibitor 99.59% 否
HY-151499A PXS-6302 hydrochloride Inhibitor 99.83% 否
HY-114286 PXS-5153A Inhibitor / 否
HY-151498A PXS-4787 hydrochloride Inhibitor 99.71% 否
HY-151498 PXS-4787 Inhibitor / 否
HY-151499 PXS-6302 Inhibitor / 否
HY-RS07743 LOXL3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21632 Loxl3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28150 Loxl3 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris LOXL3 VGNC VGNC:42740
Bos taurus LOXL3 VGNC VGNC:30954
Rattus norvegicus LOXL3 RGD RGD:1311011
Mus musculus LOXL3 MGD MGI:1337004
Macaca mulatta LOXL3 VGNC VGNC:74284
Felis catus LOXL3 VGNC VGNC:63259
Others LOXL3 NCBI
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