LOXL3
entrez
84695
canonical
uniprot
P58215
canonical
ensembl
ENSG00000115318
resolver
ensp
ENSP00000264094
resolver
ensp
ENSP00000377512
resolver
ensp
ENSP00000524015
resolver
ensp
ENSP00000524016
resolver
ensp
ENSP00000524018
resolver
genesymbol
LOXL3
resolver
genesymbol_syn
LOXL
resolver
hgnc
HGNC:13869
resolver
uniprot
D6W5J1
resolver
uniprot
Q2EHP2
resolver
uniprot
Q6IPL7
resolver
uniprot
Q96RS1
resolver
uniprot_entry
LOXL3_HUMAN
resolver
uniprot_sec
D6W5J1
resolver
uniprot_sec
Q2EHP2
resolver
uniprot_sec
Q6IPL7
resolver
uniprot_sec
Q96RS1
resolver
amino_acid_sequence
MRPVSVWQWSPWGLLLCLLCSSCLGSPSPSTGPEKKAGSQGLRFRLAGFPRKPYEGRVEIQRAGEWGTICDDDFTLQAAHILCRELGFTEATGWTHSAKYGPGTGRIWLDNLSCSGTEQSVTECASRGWGNSDCTHDEDAGVICKDQRLPGFSDSNVIEVEHHLQVEEVRIRPAVGWGRRPLPVTEGLVEVRLPDGWSQVCDKGWSAHNSHVVCGMLGFPSEKRVNAAFYRLLAQRQQHSFGLHGVACVGTEAHLSLCSLEFYRANDTARCPGGGPAVVSCVPGPVYAASSGQKKQQQSKPQGEARVRLKGGAHPGEGRVEVLKASTWGTVCDRKWDLHAASVVCRELGFGSAREALSGARMGQGMGAIHLSEVRCSGQELSLWKCPHKNITAEDCSHSQDAGVRCNLPYTGAETRIRLSGGRSQHEGRVEVQIGGPGPLRWGLICGDDWGTLEAMVACRQLGLGYANHGLQETWYWDSGNITEVVMSGVRCTGTELSLDQCAHHGTHITCKRTGTRFTAGVICSETASDLLLHSALVQETAYIEDRPLHMLYCAAEENCLASSARSANWPYGHRRLLRFSSQIHNLGRADFRPKAGRHSWVWHECHGHYHSMDIFTHYDILTPNGTKVAEGHKASFCLEDTECQEDVSKRYECANFGEQGITVGCWDLYRHDIDCQWIDITDVKPGNYILQVVINPNFEVAESDFTNNAMKCNCKYDGHRIWVHNCHIGDAFSEEANRRFERYPGQTSNQII
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in LOXL3 are found in a family with an autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence and sensorineural deafness (PubMed:25663169). Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate) (PubMed:25663169). The degree of hearing loss varies among affected individuals and may become more severe over time (PubMed:25663169). Syndrome expressivity is variable (PubMed:25663169). Ocular disorders include non-progressive myopia with associated chorioretinal degeneration (PubMed:25663169). {ECO:0000269|PubMed:25663169}.; DISEASE: Myopia 28, autosomal recessive (MYP28) [MIM:619781]: A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP28 patients are affected by early-onset high myopia in the first decade of life. Retinal detachment may occur, and early-onset cataract has been reported. {ECO:0000269|PubMed:26957899, ECO:0000269|PubMed:33456446}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.4.3.-
uniprot
proteins
ec_number
1.4.3.13
uniprot
proteins
function
FUNCTION: Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:17018530, PubMed:28065600). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin (PubMed:17018530). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600). Also able to catalyze deacetylation of lysine residues on STAT3 (PubMed:28065600). {ECO:0000250|UniProtKB:Q9Z175, ECO:0000269|PubMed:17018530, ECO:0000269|PubMed:28065600}.; FUNCTION: [Isoform 1]: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type VIII (PubMed:17018530). {ECO:0000269|PubMed:17018530}.; FUNCTION: [Isoform 2]: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV (PubMed:17018530). {ECO:0000269|PubMed:17018530}.
uniprot
proteins
mass_dalton
83166
uniprot
proteins
mutagenesis
MUTAGEN 83; /note="C->A: Impaired ability to mediate deacetylation of STAT3; when associated with A-214; A-345 and A-459."; /evidence="ECO:0000269|PubMed:28065600"; MUTAGEN 214; /note="C->A: Impaired ability to mediate deacetylation of STAT3; when associated with A-83; A-345 and A-459."; /evidence="ECO:0000269|PubMed:28065600"; MUTAGEN 345; /note="C->A: Impaired ability to mediate deacetylation of STAT3; when associated with A-83; A-214 and A-459."; /evidence="ECO:0000269|PubMed:28065600"; MUTAGEN 376; /note="C->A: Impaired ability to mediate deacetylation of STAT3; when associated with A-446 and A-492."; /evidence="ECO:0000269|PubMed:28065600"; MUTAGEN 446; /note="C->A: Impaired ability to mediate deacetylation of STAT3; when associated with A-376 and A-492."; /evidence="ECO:0000269|PubMed:28065600"; MUTAGEN 459; /note="C->A: Impaired ability to mediate deacetylation of STAT3; when associated with A-83; A-214 and A-345."; /evidence="ECO:0000269|PubMed:28065600"; MUTAGEN 492; /note="C->A: Impaired ability to mediate deacetylation of STAT3; when associated with A-376 and A-446."; /evidence="ECO:0000269|PubMed:28065600"; MUTAGEN 607..609; /note="HGH->QGQ: Impaired ability to mediate deacetylation of STAT3."; /evidence="ECO:0000269|PubMed:28065600
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}.
uniprot
proteins
protein_family
Lysyl oxidase family
uniprot
proteins
pubmed
11284725
uniprot
proteins
pubmed
11334717
uniprot
proteins
pubmed
11386757
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17018530
uniprot
proteins
pubmed
25663169
uniprot
proteins
pubmed
26218558
uniprot
proteins
pubmed
26957899
uniprot
proteins
pubmed
28065600
uniprot
proteins
pubmed
33456446
uniprot
proteins
sequence_length
753
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000250|UniProtKB:Q9Z175}. Cytoplasm {ECO:0000269|PubMed:28065600}. Nucleus {ECO:0000269|PubMed:28065600}. Note=It is unclear how LOXL3 is both intracellular (cytoplasmic and nuclear) and extracellular: it contains a clear signal sequence and is predicted to localize in the extracellular medium. However, the intracellular location is clearly reported and at least another protein of the family (LOXL2) also has intracellular and extracellular localization despite the presence of a signal sequence (PubMed:28065600). {ECO:0000269|PubMed:28065600}.; SUBCELLULAR LOCATION: [Isoform 1]: Secreted, extracellular space {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:17018530}. Secreted, extracellular space {ECO:0000269|PubMed:17018530}.
uniprot
proteins