Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol LOXL1 contributors: shn/npt - updated : 10-12-2009
HGNC name lysyl oxidase-like 1
HGNC id 6665
Corresponding disease
XFS exfoliation syndrome
Location 15q24.1      Physical location : 74.218.788 - 74.244.478
Synonym name lysyl oxidase homolog 1
Synonym symbol(s) LOL, LOXL
EC.number 1.4.3.13
DNA
TYPE functioning gene
STRUCTURE 25.69 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - D15S215 - D15S1026 - LOXL1 - D15S160 - D15S965 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2361 - 574 - Hewitt (2008)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   lowly
Nervousbrain   lowly
Reproductivefemale systemplacenta  highly
Respiratorylung   moderately
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
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)