InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LOXL1

Summary

InnateDB Protein

IDBP-21347.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LOXL1

Protein Name

lysyl oxidase-like 1

Synonyms

LOL; LOXL;

Species

Homo sapiens

Ensembl Protein

ENSP00000261921

InnateDB Gene

IDBG-21345 (LOXL1)

Protein Structure

UniProt Annotation

Function

Active on elastin and collagen substrates. {ECO:0000250}.

Subcellular Localization

Secreted, extracellular space {ECO:0000305}.

Disease Associations

Exfoliation syndrome (XFS) [MIM:177650]: A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues. {ECO:0000269PubMed:18037624, ECO:0000269PubMed:19343041}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to exfoliation syndrome is conferred by a risk haplotype that includes two LOXL1 coding non-synonymous SNPs (Arg141Leu and Gly153Asp) and one intronic SNP. Arg141Leu and Gly153Asp are sufficient to confer disease susceptibility in some populations.

Tissue Specificity

Expressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not detected in the retina. {ECO:0000269PubMed:18037624}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005507	copper ion binding
GO:0005515	protein binding
GO:0016641	oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor

Biological Process

GO:0018277	protein deamination
GO:0030198	extracellular matrix organization
GO:0032496	response to lipopolysaccharide
GO:0035904	aorta development
GO:0055114	oxidation-reduction process

Cellular Component

GO:0001669	acrosomal vesicle
GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005604	basement membrane
GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0031012	extracellular matrix