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P58215 Proteins SRCR domain Repeats
Uniprot ID:P58215
Protein name: Lysyl oxidase homolog 3
Gene : LOXL3 LOXL
Protein Family:Lysyl oxidase family
Squence Length : 753
Sequnce
>P58215 754 MRPVSVWQWSPWGLLLCLLCSSCLGSPSPSTGPEKKAGSQGLRFRLAGFPRKPYEGRVEIQRAGEWGTICDDDFTLQAAHILCRELGFTEATGWTHSAKYGPGTGRIWLDNLSCSGTEQSVTECASRGWGNSDCTHDEDAGVICKDQRLPGFSDSNVIEVEHHLQVEEVRIRPAVGWGRRPLPVTEGLVEVRLPDGWSQVCDKGWSAHNSHVVCGMLGFPSEKRVNAAFYRLLAQRQQHSFGLHGVACVGTEAHLSLCSLEFYRANDTARCPGGGPAVVSCVPGPVYAASSGQKKQQQSKPQGEARVRLKGGAHPGEGRVEVLKASTWGTVCDRKWDLHAASVVCRELGFGSAREALSGARMGQGMGAIHLSEVRCSGQELSLWKCPHKNITAEDCSHSQDAGVRCNLPYTGAETRIRLSGGRSQHEGRVEVQIGGPGPLRWGLICGDDWGTLEAMVACRQLGLGYANHGLQETWYWDSGNITEVVMSGVRCTGTELSLDQCAHHGTHITCKRTGTRFTAGVICSETASDLLLHSALVQETAYIEDRPLHMLYCAAEENCLASSARSANWPYGHRRLLRFSSQIHNLGRADFRPKAGRHSWVWHECHGHYHSMDIFTHYDILTPNGTKVAEGHKASFCLEDTECQEDVSKRYECANFGEQGITVGCWDLYRHDIDCQWIDITDVKPGNYILQVVINPNFEVAESDFTNNAMKCNCKYDGHRIWVHNCHIGDAFSEEANRRFERYPGQTSNQII
Domains
DOMAIN 44 145 SRCR 1 DOMAIN 169 282 SRCR 2 DOMAIN 307 407 SRCR 3 DOMAIN 417 525 SRCR 4
SRCR sequence regions
44 - 145 LAGFPRKPYEGRVEIQRAGEWGTICDDDFTLQAAHILCRELGFTEATGWTHSAKYGPGTGRIWLDNLSCSGTEQSVTECASRGWGNSDCTHDEDAGVICKDQ 169 - 282 IRPAVGWGRRPLPVTEGLVEVRLPDGWSQVCDKGWSAHNSHVVCGMLGFPSEKRVNAAFYRLLAQRQQHSFGLHGVACVGTEAHLSLCSLEFYRANDTARCPGGGPAVVSCVPG 307 - 407 LKGGAHPGEGRVEVLKASTWGTVCDRKWDLHAASVVCRELGFGSAREALSGARMGQGMGAIHLSEVRCSGQELSLWKCPHKNITAEDCSHSQDAGVRCNLP 417 - 525 LSGGRSQHEGRVEVQIGGPGPLRWGLICGDDWGTLEAMVACRQLGLGYANHGLQETWYWDSGNITEVVMSGVRCTGTELSLDQCAHHGTHITCKRTGTRFTAGVICSET
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).; 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).; 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)"
Mutation
83 83 C->A: Impaired ability to mediate deacetylation of STAT3 when associated with A-214 A-345 and A-459 214 214 C->A: Impaired ability to mediate deacetylation of STAT3 when associated with A-83 A-345 and A-459 345 345 C->A: Impaired ability to mediate deacetylation of STAT3 when associated with A-83 A-214 and A-459 376 376 C->A: Impaired ability to mediate deacetylation of STAT3 when associated with A-446 and A-492 446 446 C->A: Impaired ability to mediate deacetylation of STAT3 when associated with A-376 and A-492 459 459 C->A: Impaired ability to mediate deacetylation of STAT3 when associated with A-83 A-214 and A-345 492 492 C->A: Impaired ability to mediate deacetylation of STAT3 when associated with A-376 and A-446 607 609 HGH->QGQ: Impaired ability to mediate deacetylation of STAT3
Disease
"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) Defects in LOXL3 are found in another family with early-onset high myopia (PubMed:26957899) The disease may be caused by mutations affecting the gene represented in this entry (PubMed:25663169, PubMed:26957899)"