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FLASH GENE
Symbol LOXL3 contributors: mct - updated : 25-11-2021
HGNC name lysyl oxidase-like 3
HGNC id 13869
Corresponding disease
STL6 Stickler syndrome 6
Location 2p13.1      Physical location : 74.759.945 - 74.781.062
Synonym name lysyl oxidase homolog 3
Synonym symbol(s) LOXL
EC.number 1.4.3.13
DNA
TYPE functioning gene
SPECIAL FEATURE
text PRSS25
STRUCTURE 23.46 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 3689 - 753 - 2019 31340433
12 - 3254 - 608 - 2019 31340433
10 - 2856 - 392 - 2019 31340433
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
Cardiovascularheart   highly
Digestiveintestinesmall intestine  highly
Nervousbrainhindbrainmedulla oblongata highly
 spinal cord   highly
Reproductivefemale systemovary  highly
 male systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoietic    
Connective    
Lymphoid    
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticleukocyte
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text highly in placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • LOXL3 N-terminal scavenger receptor cysteine-rich (SRCR) repeats, rather than the C-terminal oxidase catalytic domain, represent the major deacetylase/deacetyliminase activity
  • four scavenger receptor cysteine-rich domains
  • one copper binding site
  • four histidyl residues
  • five N glycosylation sites
  • conjugated MetalloP
    HOMOLOGY
    Homologene
    FAMILY
  • lysyl oxidase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text extracellular matrix
    basic FUNCTION
  • modulating the formation of a collagenous extracellular matrix
  • role for LOXL3 in the control of genome stability and melanoma progression
  • copper-dependent amine oxidase responsible for the crosslinking of collagen and elastin in the extracellular matrix
  • is responsible for the crosslinking in collagen or elastin
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • copper Cu2+
  • protein
  • LOXL3 associates with STAT3 in the nucleus to deacetylate and deacetyliminate STAT3 on multiple acetyl-lysine sites
  • LOXL3 interacts with proteins involved in DNA stability and mitosis completion, contributing to melanoma progression and sustained proliferation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STL6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    may contribute to halting the tumor cell invasion in glioblastoma
    Susceptibility to non-syndromic cleft palate
    Variant & Polymorphism other
  • association between a common missense variant in LOXL3 gene and the risk of non-syndromic cleft palate
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerskin 
    therapeutic target in malignant melanoma,
    ANIMAL & CELL MODELS
  • Loxl3 deficient mouse model demonstrated features overlapping with Stickler syndrome