LOXL3 - lysyl oxidase like 3 Gene

Also Known as LOXL; MYP28

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84695

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 References 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 References 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 References 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

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.
Protein Preferred Names Protein Names

lysyl oxidase homolog 3

  • lysyl oxidase-like protein 3

LOXL3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (11)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-114286A PXS-5153A monohydrochloride Inhibitor 99.59% Unkown
HY-170538 SNT-5382 Inhibitor 99.96% Unkown
HY-151499A PXS-6302 hydrochloride Inhibitor 99.57% Unkown
HY-151498A PXS-4787 hydrochloride Inhibitor 99.71% Unkown
HY-114286 PXS-5153A Inhibitor / Unkown
HY-151498 PXS-4787 Inhibitor / Unkown
HY-151499 PXS-6302 Inhibitor / Unkown
HY-180581 LOXL2/sGC modulator-1 / Unkown
HY-RS07743 LOXL3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21632 Loxl3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28150 Loxl3 Rat Pre-designed siRNA Set A Pre-designed Set / 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