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FLASH GENE
Symbol LACC1 contributors: mct - updated : 06-06-2018
HGNC name laccase domain containing 1
HGNC id 26789
Location 13q14.11      Physical location : -
Synonym name
  • hypothetical protein LOC144811
  • chromosome 13 open reading frame 31
  • fatty acid metabolisma immunity nexus
  • Synonym symbol(s) FLJ38725, DKFZp686D11119, C13orf31, FAMIN
    DNA
    TYPE functioning gene
    STRUCTURE 14.75 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text two transcripts encode the same isoform
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 4288 47 430 - 2016 27478939
    7 - 4124 47 430 - 2016 27478939
    6 - 4607 - 430 - 2016 27478939
    7 - 4403 - 430 - 2016 27478939
    8 - 4598 - 430 - 2016 27478939
    8 - 4348 - 174 - 2016 27478939
    7 - 4144 - 174 - 2016 27478939
    7 - 4263 - 430 - 2016 27478939
    6 - 3969 - 428 - 2016 27478939
    7 - 3880 - 174 - 2016 27478939
    6 - 3719 - 172 - 2016 27478939
    7 - 4126 - 430 - 2016 27478939
    7 - 3876 - 174 - 2016 27478939
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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