UniProt:Q08397 LOXL1

chain
  • signal peptide:1-25
  • propeptide:26-95
  • chain:96-574
checksum 7570FEFB3E09066D
comment
  • FUNCTION Catalyzes the oxidative deamination of lysine and hydroxylysine residues in collagen and elastin, resulting in the formation of covalent cross-linkages, and the stabilization of collagen and elastin fibers (By similarity). Essential for the elastic fiber homeostasis and for their maintenance at adult age (By similarity).CATALYTIC ACTIVITY L-lysyl-[protein] + O2 + H2O = (S)-2-amino-6-oxohexanoyl-[protein] + H2O2 + NH4(+)COFACTOR Contains 1 lysine tyrosylquinone.SUBUNIT Interacts (via propeptide) with EFEMP2 (PubMed:27339457). Interacts with FBLN5 (By similarity).SUBCELLULAR LOCATION Expressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not detected in the retina.PTM The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine.PTM Proteolytic processing by a furin-like protease causes removal of N-terminal propeptide resulting in an enzyme largely inactive, but further proteolytic processing by BMP1 results in enzyme activation.DISEASE Disease susceptibility is associated with variants 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.SIMILARITY Belongs to the lysyl oxidase family.
crossReference
databaseName UniProt
dbId 58661
description
  • recommendedName: Lysyl oxidase homolog 1 ecNumber evidence="3"1.4.3.13 alternativeName: Lysyl oxidase-like protein 1 shortName: LOL
displayName UniProt:Q08397 LOXL1
geneName
  • LOXL1
  • LOXL
identifier Q08397
isSequenceChanged false
keyword
  • Cleavage on pair of basic residues
  • Copper
  • Disulfide bond
  • Extracellular matrix
  • Glaucoma
  • LTQ
  • Metal-binding
  • Oxidoreductase
  • Proteomics identification
  • Reference proteome
  • Secreted
  • Signal
  • TPQ
modified [InstanceEdit:9948485] Weiser, Joel, 2025-05-21
moleculeType Protein
name
  • LOXL1
otherIdentifier
  • 11717551_a_at
  • 16802903
  • 203570_PM_at
  • 203570_at
  • 3601349
  • 3601350
  • 3601351
  • 3601352
  • 3601353
  • 3601354
  • 3601355
  • 3601356
  • 3601357
  • 3601358
  • 3601359
  • 3601360
  • 3601368
  • 3601369
  • 3601371
  • 3601372
  • 3601373
  • 3601374
  • 3601375
  • 3601376
  • 3601377
  • 3601379
  • 3601380
  • 36811_at
  • 4016
  • 7984771
  • 87896_s_at
  • A_23_P124084
  • A_33_P3354464
  • GE60531
  • GO:0001669
  • GO:0003824
  • GO:0004720
  • GO:0005507
  • GO:0005515
  • GO:0005576
  • GO:0005604
  • GO:0005615
  • GO:0016491
  • GO:0016641
  • GO:0018277
  • GO:0030198
  • GO:0030199
  • GO:0030312
  • GO:0031012
  • GO:0032496
  • GO:0035904
  • GO:0046872
  • GO:0048856
  • GO:0140096
  • HMNXSV003020568
  • ILMN_1708363
  • ILMN_1734950
  • PH_hs_0004020
  • TC15000670.hg
  • U24389_s_at
  • g5031882_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • LOXL1_HUMAN
  • Q6NUL3
  • Q96BW7
sequenceLength 574
species [Species:48887] Homo sapiens
stId uniprot:Q08397
url http://purl.uniprot.org/uniprot/Q08397
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