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FLASH GENE

Symbol

LOXL1

contributors: shn/npt - updated : 10-12-2009

HGNC name	lysyl oxidase-like 1
HGNC id	6665

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005576 7 - 2361 NP_005567 - 574 - Hewitt (2008)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       lowly Nervous brain       lowly Reproductive female system placenta     highly Respiratory lung       moderately Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   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 rerioù

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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)