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FLASH GENE
Symbol LOXL1 contributors: shn/npt - updated : 10-12-2009
HGNC name lysyl oxidase-like 1
HGNC id 6665
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • extensive homology with the conserved copper-binding and catalytic domains of LOX
  • lacking a signal sequence
    • conjugated MetalloP
    HOMOLOGY
    interspecies ortholog to Loxl1, Mus musculus
    ortholog to Loxl1, Rattus norvegicus
    ortholog to loxl1, Danio rerio๙
    Homologene
    FAMILY lysyl oxidase gene family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • catalyzes oxidative deamination of lysine residues of tropoelastin leading to their spontaneous cross-linking with consequential formation of elastin polymer fibers
  • required both as a crosslinking enzyme and an element of the scaffold to ensure spatially defined deposition of elastin
  • playing a generalized role in elastic fiber homeostatsis in adult tissues
  • essential for biogenesis of connective tissue
  • can act as tumor suppressor genes and exert their functions through the inhibition of the Ras/ERK signaling pathway in bladder cancer (Wu 2007)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    copper Cu2+ and lysyl tyrosine kinase
    protein
  • fibulin 5 (FBLN5)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) XFS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    commonly silenced genes in human bladder cancer cells, and this silence is predominantly related to promoter methylation (Wu 2007)
    Susceptibility to pseudoexfoliation (PEX) and pseudoexfoliation glaucoma (PEXG)
    Variant & Polymorphism SNP LOXL1 SNPs are highly associated with exfoliation syndrome (XFS)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking the protein lysyl oxidase-like 1 (LOXL1) do not deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation (Liu 2004)