LOXL1 - lysyl oxidase like 1 Gene

Also Known as LOL; LOXL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4016

About LOXL1

Cytogenetic location: 15q24.1 Genomic coordinates (GRCh38): 15:73,926,462-73,952,136 (from NCBI)

This gene has 5 transcripts (splice variants), 191 orthologues, 15 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 6.9), prostate (RPKM 6.7) and 25 other tissues.

Summary

This gene encodes a member of the Lysyl Oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in Collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]

LOXL1 Products (1)

mRNA	Protein	Name
NM_005576.4	NP_005567.2	lysyl oxidase homolog 1 preproprotein

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27339457	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in extracellular space	IDA IDA: Inferred from direct assay	37602378	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

LOXL1 Protein Structure

Lysyl_oxidase

0
100
200
300
400
500
574 a.a.

Protein Preferred Names	Protein Names
lysyl oxidase homolog 1	lysyl oxidase-like protein 1

Related Diseases

Diseases	Alias
Exfoliation Syndrome	Pseudoexfoliation Glaucoma Pseudoexfoliation Syndrome Exfoliation Syndrome, Susceptibility To XFS Exfoliation Glaucoma Xfg Pseudoexfoliation Of The Lens Pexg Pexs Exfoliative Syndrome Glaucoma Capsulare Pex Pseudo-Exfoliation Syndrome
Open-Angle Glaucoma	Glaucoma Simplex Pigmentary Glaucoma Wide-Angle Glaucoma Glaucoma, Open-Angle Open Angle Glaucoma Glaucoma Open-Angle Chronic Simple Glaucoma Coag - [Chronic Open-Angle Glaucoma] Csg - [Chronic Simple Glaucoma] Poag - [Primary Open-Angle Glaucoma] Oag - [Open-Angle Glaucoma] Chronic Glaucoma Chronic Open Angle Glaucoma Simple Glaucoma Chronic Noncongestive Glaucoma Ltg - [Low Tension Glaucoma] Noncongestive Glaucoma Nonobstructive Glaucoma Normal Pressure Glaucoma Primary Low Tension Glaucoma Low-Tension Glaucoma Residual Stage Low Tension Glaucoma Open Cleft Glaucoma
Phacogenic Glaucoma
Pelvic Organ Prolapse	Rectal Prolapse Pelvic Organ Prolapse, Susceptibility To, 1 Pelvic Organ Prolapse, Susceptibility To Prolapse Of Vagina And Rectum Vaginal Prolapse Pelvic Organ Prolapse 1 Procidentia, Rectum Prolapse Of Rectal Mucosa Procidentia Of Rectum Rectal Mucosa Prolapse Rectum Prolapse Procidentia Rectum Rp - [Rectal Prolapse] Male Proctocele Male Rectocele Proctoptosis Female Genital Prolapse Female Prolapse Incompetence Of Pelvic Fundus Relaxation Of Perineum Deficiency Of Perineum
Intraocular Pressure Quantitative Trait Locus	Glaucoma IOPQTL Glaucoma, Susceptibility To Postinfectious Glaucoma Glaucoma With Ocular Inflammation Glaucoma Secondary To Eye Inflammation Traumatic Glaucoma Glaucoma With Concussion Of Globe Glaucoma Due To Ocular Trauma Glaucoma Associated With Ocular Trauma Glaucoma Secondary To Drugs
Iris Disease	Iris Diseases
Retinal Vein Occlusion	Occlusion, Of Retinal Vein
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Ocular Pigment Dispersion With Or Without Glaucoma	Pigment Dispersion Syndrome Glaucoma-Related Pigment Dispersion Syndrome OPDG Pds Glaucoma, Pigment-Dispersion Type Gpds1 Pigment-Dispersion Type Glaucoma Pigment-Dispersion Syndrome Glaucoma, Open-Angle
Chronic Closed-Angle Glaucoma	Anatomical Narrow Angle Glaucoma Chronic Angle-Closure Glaucoma Chronic Narrow Angle Glaucoma Secondary Angle-Closure Glaucoma - Synechial
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Lens Subluxation	Subluxation Of Lens
Phacolytic Glaucoma
Uveal Disease	Uveal Diseases
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Primary Angle-Closure Glaucoma	Primary Angle Closure Glaucoma Angle Closure Glaucoma Acg - [Angle Closure Glaucoma] Angle-Closure Glaucoma Closed Angle Glaucoma Acute Glaucoma Prodromal Angle Closure Glaucoma
Morgagni Cataract	Hypermature Cataract Morgagnian Cataract
Glaucoma, Normal Tension	Low Tension Glaucoma Glaucoma, Normal Tension, Susceptibility To Normal Tension Glaucoma Ntg Glaucoma, Normal Pressure NPG Glaucoma, Normal Pressure, Susceptibility To Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]
Juvenile Glaucoma	Glaucoma Of Childhood Hydrophthalmos
Keratopathy
Lens Disease	Lens Diseases
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Scoliosis
Nanophthalmos	Nanophthalmia
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

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 (9)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
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-171955	LXG6403		99.85%	Unkown
HY-151498	PXS-4787	Inhibitor	/	Unkown
HY-151499	PXS-6302	Inhibitor	/	Unkown
HY-RS07741	LOXL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19707	Loxl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26203	Loxl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LOXL1	MGD	MGI:106096
Felis catus	LOXL1	VGNC	VGNC:68079
Rattus norvegicus	LOXL1	RGD	RGD:1308752
Bos taurus	LOXL1	VGNC	VGNC:30952
Canis familiaris	LOXL1	VGNC	VGNC:49917
Macaca mulatta	LOXL1	VGNC	VGNC:82176
Others	LOXL1	NCBI