LACC1 gene

laccase domain containing 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]

From UniProt:

Purine nucleoside enzyme that catalyzes the phosphorolysis of adenosine, guanosine and inosine nucleosides, yielding D-ribose 1-phosphate and the respective free bases, adenine, guanine and hypoxanthine (PubMed:31978345). Also catalyzes the phosphorolysis of S-methyl-5'-thioadenosine into adenine and S-methyl-5-thio-alpha-D-ribose 1-phosphate (PubMed:31978345). Also has adenosine deaminase activity (PubMed:31978345). Acts as a regulator of innate immunity in macrophages by modulating the purine nucleotide metabolism, thereby regulating the metabolic function and bioenergetic state of macrophages (PubMed:31978345). Enables a purine nucleotide cycle between adenosine and inosine monophosphate and adenylosuccinate that prevents cytoplasmic acidification and balances the cytoplasmic-mitochondrial redox interface (PubMed:31978345). The purine nucleotide cycle consumes aspartate and releases fumarate in a manner involving fatty acid oxidation and ATP-citrate lyase activity (PubMed:31978345). Participates in pattern recognition receptor (PRR)-induced cytokines in macrophages: associates with the NOD2-signaling complex and promotes optimal NOD2-induced signaling, cytokine secretion and bacterial clearance (PubMed:28593945, PubMed:31875558). Localizes to the endoplasmic reticulum upon PRR stimulation of macrophages and associates with endoplasmic reticulum-stress sensors, promoting the endoplasmic reticulum unfolded protein response (UPR) (PubMed:31875558). Does not show laccase activity (PubMed:27959965, PubMed:31978345).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Juvenile arthritis due to defect in LACC1

From UniProt:

Juvenile rheumatoid arthritis, characterized by an inflammatory disease with autoimmune features beginning before the age of 16 (PubMed:25220867, PubMed:27881174, PubMed:29717096, PubMed:31811059, PubMed:30872671). Rheumatoid arthritis primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures (PubMed:25220867, PubMed:27881174, PubMed:29717096, PubMed:31811059, PubMed:30872671). The phenotype is variable, the majority of patients is associated with systemic inflammation (PubMed:25220867, PubMed:29717096). Some families however display polyarthritis without systemic inflammation (PubMed:31811059). Some patients present rheumatoid factor (RF)-negative polyarticular juvenile idiopathic arthritis (PubMed:30872671). Disease susceptibility is associated with variations affecting the gene represented in this entry (PubMed:25220867, PubMed:27881174, PubMed:29717096, PubMed:31811059, PubMed:30872671).

Cytogenetic Location: 13q14.11, which is the long (q) arm of chromosome 13 at position 14.11

Molecular Location: base pairs 43,879,178 to 43,893,932 on chromosome 13 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 13q14.11, which is the long (q) arm of chromosome 13 at position 14.11
  • C13orf31
  • FAMIN
  • JUVAR