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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LACC1
laccase domain containing 1
Chromosome 13 Β· 13q14.11
NCBI Gene: 144811Ensembl: ENSG00000179630.12HGNC: HGNC:26789UniProt: Q8IV20
42PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
oxidoreductase activity, acting on diphenols and related substances as donors, oxygen as acceptoradenosine deaminase activitypurine-nucleoside phosphorylase activityguanosine phosphorylase activityjuvenile idiopathic arthritisjuvenile arthritis due to defect in LACC1Crohn's diseaseleprosy
✦AI Summary

LACC1 (laccase domain containing 1) is a purine nucleoside enzyme that serves as a critical regulator of innate immunity and metabolic homeostasis in macrophages. The protein catalyzes the phosphorolysis of adenosine, guanosine, and inosine nucleosides, yielding D-ribose 1-phosphate and free bases, and also demonstrates adenosine deaminase activity 1. LACC1 modulates purine nucleotide metabolism to regulate the metabolic function and bioenergetic state of macrophages through a purine nucleotide cycle that prevents cytoplasmic acidification 1. Additionally, LACC1 converts L-citrulline to L-ornithine and isocyanic acid, bridging NOS2 and polyamine immunometabolism to support anti-inflammatory and antibacterial macrophage functions 2. The protein associates with the NOD2-signaling complex and promotes optimal NOD2-induced signaling, cytokine secretion, and bacterial clearance 3. LACC1 also localizes to the endoplasmic reticulum upon pattern recognition receptor stimulation and promotes the unfolded protein response 4. Loss-of-function variants in LACC1 are associated with juvenile arthritis and inflammatory bowel disease 56. Disease-risk variants, particularly the Val254 variant, demonstrate reduced PRR-induced outcomes including decreased mitochondrial ROS production, signaling, and bacterial clearance compared to the protective Ile254 variant 3.

Sources cited
1
LACC1 catalyzes phosphorolysis of purine nucleosides and has adenosine deaminase activity, regulating metabolic function of macrophages
PMID: 31978345
2
LACC1 converts L-citrulline to L-ornithine and isocyanic acid, bridging NOS2 and polyamine metabolism
PMID: 35978195
3
LACC1 associates with NOD2-signaling complex and promotes optimal NOD2-induced responses
PMID: 28593945
4
LACC1 localizes to endoplasmic reticulum and promotes unfolded protein response
PMID: 31875558
5
LACC1 mutations are associated with juvenile arthritis
PMID: 37186377
6
LACC1 is associated with inflammatory bowel disease and bacterial clearance
PMID: 32693188
Disease Associationsβ“˜21
juvenile idiopathic arthritisOpen Targets
0.64Moderate
juvenile arthritis due to defect in LACC1Open Targets
0.59Moderate
Crohn's diseaseOpen Targets
0.54Moderate
leprosyOpen Targets
0.54Moderate
systemic juvenile idiopathic arthritisOpen Targets
0.37Weak
psoriasisOpen Targets
0.31Weak
ankylosing spondylitisOpen Targets
0.27Weak
ulcerative colitisOpen Targets
0.27Weak
sclerosing cholangitisOpen Targets
0.26Weak
asthmaOpen Targets
0.26Weak
inflammatory bowel diseaseOpen Targets
0.24Weak
Behcet's syndromeOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
premature birthOpen Targets
0.11Weak
type 1 diabetes mellitusOpen Targets
0.08Suggestive
colitisOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.07Suggestive
smoking behaviorOpen Targets
0.05Suggestive
tuberculosisOpen Targets
0.05Suggestive
benign neoplasm of eyeOpen Targets
0.05Suggestive
Juvenile arthritisUniProt
Pathogenic Variants8
NM_153218.4(LACC1):c.988_990del (p.Ile330del)Likely pathogenic
Juvenile arthritis due to defect in LACC1
β˜…β˜†β˜†β˜†2023β†’ Residue 330
NM_153218.4(LACC1):c.827del (p.Thr276fs)Pathogenic
Juvenile arthritis due to defect in LACC1|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 276
NM_153218.4(LACC1):c.296del (p.Asn99fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 99
NM_153218.4(LACC1):c.783_797del (p.Glu261_Tyr265del)Likely pathogenic
Juvenile arthritis due to defect in LACC1
β˜…β˜†β˜†β˜†β†’ Residue 261
NM_153218.4(LACC1):c.128_129del (p.Cys43fs)Pathogenic
Juvenile arthritis due to defect in LACC1
β˜†β˜†β˜†β˜†2021β†’ Residue 43
NM_153218.4(LACC1):c.268_272dup (p.Lys92fs)Likely pathogenic
Juvenile arthritis due to defect in LACC1
β˜†β˜†β˜†β˜†2020β†’ Residue 92
NM_153218.4(LACC1):c.3G>A (p.Met1Ile)Pathogenic
Juvenile arthritis due to defect in LACC1
β˜†β˜†β˜†β˜†2020β†’ Residue 1
NM_153218.4(LACC1):c.1240C>T (p.Arg414Ter)Pathogenic
Juvenile arthritis due to defect in LACC1
β˜†β˜†β˜†β˜†2020β†’ Residue 414
View on ClinVar β†—
Related Genes
PLPBPProtein interaction83%CCDC122Protein interaction75%TNFSF15Protein interaction73%RIPK2Protein interaction72%NLRP11Shared pathway25%ARMH4Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Brain
87%
Liver
40%
Bone Marrow
38%
Ovary
33%
Lung
29%
Gene Interaction Network
Click a node to explore
LACC1PLPBPCCDC122TNFSF15RIPK2NLRP11ARMH4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IV20
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.59–1.16]
RankingsWhere LACC1 stands among ~20K protein-coding genes
  • #9,896of 20,598
    Most Researched42
  • #3,105of 5,498
    Most Pathogenic Variants8
  • #12,094of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedLACC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
LACC1 bridges NOS2 and polyamine metabolism in inflammatory macrophages.
PMID: 35978195
Nature Β· 2022
1.00
2
Myeloid Cell Expression of LACC1 Is Required for Bacterial Clearance and Control of Intestinal Inflammation.
PMID: 32693188
Gastroenterology Β· 2020
0.90
3
Human LACC1 increases innate receptor-induced responses and a LACC1 disease-risk variant modulates these outcomes.
PMID: 28593945
Nat Commun Β· 2017
0.80
4
The research progress of LACC1.
PMID: 41376621
Front Immunol Β· 2025
0.70
5
Crohn's Disease-associated variant in laccase domain containing 1 (LACC1) modulates T cell gene expression, metabolism and T cell function.
PMID: 40089498
Nat Commun Β· 2025
0.60