LACC1 Gene (Laccase Domain Containing 1)
A key regulator of immunometabolism and inflammatory signaling, associated with juvenile idiopathic arthritis and Crohn's disease.
Gene Information Card
| Symbol | LACC1 |
|---|---|
| Full Name | Laccase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.11 |
| NCBI Gene ID | 144811 ncbi.nlm.nih.gov/gene/144811 |
| Ensembl ID | ENSG00000179604 |
| UniProt ID | Q8IV20 |
| OMIM ID | 613409 |
| HGNC ID | 24604 |
| Aliases | C13orf31, FLJ30046 |
Description
LACC1 (laccase domain containing 1) encodes a protein with a laccase-like multicopper oxidase domain, involved in immunometabolic regulation. It is highly expressed in macrophages and dendritic cells, where it modulates fatty acid oxidation and inflammatory cytokine production. Loss-of-function mutations are linked to juvenile idiopathic arthritis (JIA) and Crohn's disease, while gain-of-function variants may confer protection against inflammatory bowel disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Juvenile Idiopathic Arthritis (JIA) | Loss-of-function mutations impair immunometabolic signaling, leading to dysregulated inflammation. | PMID: 25574826, ClinVar |
| Crohn's Disease | LACC1 deficiency reduces fatty acid oxidation in macrophages, promoting intestinal inflammation. | PMID: 25574826, OMIM 613409 |
| Leprosy (paucibacillary) | Genetic variants in LACC1 influence host susceptibility to Mycobacterium leprae. | PMID: 23192014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 24.5 | High |
| Spleen | 18.2 | High |
| Lung | 12.1 | Medium |
| Small Intestine | 8.9 | Medium |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 32.1 | Differentiated macrophages show highest expression |
| K-562 (leukemia) | 15.6 | Moderate expression |
| HeLa (cervical) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.376C>T (p.Arg126Cys) | Missense | Rare | Loss of function; associated with JIA |
| c.760G>A (p.Gly254Arg) | Missense | Rare | Loss of function; linked to Crohn's disease |
| c.1042C>T (p.Arg348*) | Nonsense | Very rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants (e.g., p.Arg126Cys, p.Gly254Arg, p.Arg348*) impair protein stability or enzymatic activity, reducing fatty acid oxidation and promoting inflammatory cytokine release.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in LACC1.
Dominant Negative (DN)
No evidence of dominant-negative effects; disease-associated variants are typically recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • oxidoreductase activity (GO:0016491) |
| • fatty acid metabolic process (GO:0006631) | • oxidation-reduction process (GO:0055114) |
| • inflammatory response (GO:0006954) |
Pathways
• Fatty acid oxidation (immunometabolism)
• Macrophage inflammatory signaling
Protein Summary
LACC1 encodes a 418-amino acid protein containing a laccase-like multicopper oxidase domain. It localizes to the cytoplasm and is highly expressed in immune cells, particularly macrophages. The protein promotes fatty acid oxidation and suppresses pro-inflammatory cytokine production (e.g., IL-1β, IL-6). Loss of LACC1 function leads to metabolic reprogramming and chronic inflammation, underlying its role in juvenile idiopathic arthritis and Crohn's disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LACC1 Knockout HEK293 Cell Line | EDJ-KQ10429 | Human | 144811 | Details Get a Quote |
| LACC1 Knockout HCT 116 Cell Line | EDJ-KQ36506 | Human | 144811 | Details Get a Quote |
| LACC1 Knockout A-549 Cell Line | EDJ-KQ37798 | Human | 144811 | Details Get a Quote |
| LACC1 Knockout HeLa Cell Line | EDJ-KQ37800 | Human | 144811 | Details Get a Quote |
