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FLASH GENE
Symbol LACC1 contributors: mct - updated : 06-06-2018
HGNC name laccase domain containing 1
HGNC id 26789
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,organelle,peroxisome
text
  • expressed in both the cytoplasm and mitochondria
    • basic FUNCTION
  • play a crucial role in immune-metabolic functions and is involved in regulation of inflammasome activation and promotion)is critical for amplifying PRR-induced outcomes, an effect that is attenuated by the LACC1 disease-risk variant
  • play a crucial role in immune-metabolic functions and is involved in regulation of inflammasome activation and promotion of ROS production
  • active role of HIF1A and LACC1 in leprosy pathogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • formed a complex with fatty acid synthase (FASN) on peroxisomes and promoted flux through de novo lipogenesis to concomitantly drive high levels of fatty-acid oxidation (FAO) and glycolysis and, consequently, ATP regeneration
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in juvenile idiopathic arthritis (JIA)
    Susceptibility
  • to leprosy
  • to systemic juvenile idiopathic arthritis, and Crohn disease
    • Variant & Polymorphism SNP
  • association between missense variant rs3764147 (c.760A>G [p.Ile254Val]) in the GWAS hit LACC1 (formerly C13orf31) and leprosy
  • single-nucleotide variations that encode p.C284R and p.I254V are associated with increased risk for systemic juvenile idiopathic arthritis, leprosy and Crohn disease
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS