LOXL3 - lysyl oxidase like 3 Gene

Homo sapiens

Also known as LOXL; MYP28

Gene ID: 84695 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16096638	GOA
enables protein-lysine 6-oxidase activity	IDA IDA: Inferred from direct assay	28065600	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in epithelial to mesenchymal transition	IDA IDA: Inferred from direct assay	16096638	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16096638	GOA
involved in negative regulation of T-helper 17 cell lineage commitment	IDA IDA: Inferred from direct assay	28065600	GOA
involved in peptidyl-lysine oxidation	IDA IDA: Inferred from direct assay	28065600	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	28065600	GOA
located in extracellular region	IDA IDA: Inferred from direct assay	11284725	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28065600	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

LOXL3 Protein Structure

SRCR

Lysyl_oxidase

0
200
400
600
753 a.a.

Protein Preferred Names

Protein Names

lysyl oxidase homolog 3

lysyl oxidase-like protein 3

LOXL3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	LOXL3	P58215	Adamtsl2	Mus musculus	Q7TSK7	Anti Tag CoIP	29758265

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114286A	PXS-5153A monohydrochloride	Inhibitor	99.67%	Unkown
HY-151499A	PXS-6302 hydrochloride	Inhibitor	99.83%	Unkown
HY-114286	PXS-5153A	Inhibitor	/	Unkown
HY-151498A	PXS-4787 hydrochloride	Inhibitor	99.71%	Unkown
HY-151498	PXS-4787	Inhibitor	/	Unkown
HY-151499	PXS-6302	Inhibitor	/	Unkown
HY-RS07743	LOXL3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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