LOXL1
entrez
4016
canonical
uniprot
Q08397
canonical
ensembl
ENSG00000129038
resolver
ensp
ENSP00000261921
resolver
ensp
ENSP00000457827
resolver
ensp
ENSP00000686164
resolver
enst
ENST00000261921
resolver
enst
ENST00000566011
resolver
genesymbol
LOXL1
resolver
genesymbol_syn
LOXL
resolver
hgnc
HGNC:6665
resolver
uniprot
H3BUV8
resolver
uniprot
Q6NUL3
resolver
uniprot
Q96BW7
resolver
uniprot_entry
H3BUV8_HUMAN
resolver
uniprot_entry
LOXL1_HUMAN
resolver
uniprot_sec
Q6NUL3
resolver
uniprot_sec
Q96BW7
resolver
amino_acid_sequence
MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSEYVPAGPQRSESSSRVLLAGAPQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFGFGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASSVSASAFASTYRQQPSYPQQFPYPQAPFVSQYENYDPASRTYDQGFVYYRPAGGGVGAGAAAVASAGVIYPYQPRARYEEYGGGEELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYSEGTPGFEQAYPDPGPEAAQAHGGDPRLGWYPPYANPPPEAYGPPRALEPPYLPVRSSDTPPPGGERNGAQQGRLSVGSVYRPNQNGRGLPDLVPDPNYVQASTYVQRAHLYSLRCAAEEKCLASTAYAPEATDYDVRVLLRFPQRVKNQGTADFLPNRPRHTWEWHSCHQHYHSMDEFSHYDLLDAATGKKVAEGHKASFCLEDSTCDFGNLKRYACTSHTQGLSPGCYDTYNADIDCQWIDITDVQPGNYILKVHVNPKYIVLESDFTNNVVRCNIHYTGRYVSATNCKIVQS
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17690259, ECO:0000269|PubMed:18037624, ECO:0000269|PubMed:19343041}. Note=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.
uniprot
proteins
ec_number
1.4.3.13
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P97873}.
uniprot
proteins
mass_dalton
63110
uniprot
proteins
post_translational_modification
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. {ECO:0000250|UniProtKB:P33072}.; 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. {ECO:0000250|UniProtKB:Q95L39}.
uniprot
proteins
protein_family
Lysyl oxidase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17690259
uniprot
proteins
pubmed
18037624
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19343041
uniprot
proteins
pubmed
27339457
uniprot
proteins
pubmed
35328709
uniprot
proteins
pubmed
7689553
uniprot
proteins
sequence_length
574
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:35328709}. Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:P97873}.
uniprot
proteins