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LACC1 (laccase domain containing 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
144811
Gene nameGene Name - the full gene name approved by the HGNC.
Laccase domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LACC1
SynonymsGene synonyms aliases
C13orf31, FAMIN, JUVAR
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.11
SummarySummary of gene provided in NCBI Entrez 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 f
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs184370809 C>T Pathogenic Stop gained, genic downstream transcript variant, coding sequence variant, intron variant
rs730880295 T>C Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs776489319 ATT>- Pathogenic Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1594890601 C>- Pathogenic Frameshift variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT043065 hsa-miR-324-5p CLASH 23622248
MIRT620124 hsa-miR-5003-3p HITS-CLIP 23824327
MIRT620123 hsa-miR-3148 HITS-CLIP 23824327
MIRT620122 hsa-miR-4668-5p HITS-CLIP 23824327
MIRT620121 hsa-miR-3153 HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0002221 Process Pattern recognition receptor signaling pathway IDA 28593945, 31875558
GO:0002367 Process Cytokine production involved in immune response IDA 28593945
GO:0004000 Function Adenosine deaminase activity IDA 31978345
GO:0004731 Function Purine-nucleoside phosphorylase activity IDA 31978345
GO:0005507 Function Copper ion binding IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8IV20
Protein name Purine nucleoside phosphorylase LACC1 (EC 2.4.2.1) (Adenosine deaminase LACC1) (EC 3.5.4.4) (Fatty acid metabolism-immunity nexus) (Guanosine phosphorylase LACC1) (Laccase domain-containing protein 1) (S-methyl-5'-thioadenosine phosphorylase LACC1) (EC 2.
Protein function 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 phos
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02578 Cu-oxidase_4
195 → 427
Multi-copper polyphenol oxidoreductase laccase
 Family
Sequence 
MAEAVLIDLFGLKLNSQKNCHQTLLKTLNAVQYHHAAKAKFLCIMCCSNISYERDGEQDN
CEIETSNGLSALLEEFEIVSCPSMAATLYTIKQKIDEKNLSSIKVIVPRHRKTLMKAFID
QLFTDVYNFEFEDLQVTFRGGLFKQSIEINVITAQELRGIQNEIETFLRSLPALRGKLTI
ITSSLIPDIFIHGFTTRTGGISYIPTLSSFNLFSSSKRRDPKVVVQENLRRLANAAGFNV
EKFYRIKTHHSNDIWIMGRKEPDSYDGITTNQRGVTIAALGADCIPIVFADPVKKACGVA
HAGWKGTLLGVAMATVNAMIAEYGCSLEDIVVVLGPSVGPCCFTLPRESAEAFHNLHPAC
VQLFDSPNPCIDIRKATRILLEQGGILPQNIQDQNQDLNLCTSCHPDKFFSHVRDGLNFG
TQIGFISIKE
Sequence length 430
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
  Purine metabolism
Cysteine and methionine metabolism
Metabolic pathways
Nucleotide metabolism 		 
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthritis Systemic onset juvenile chronic arthritis, Juvenile arthritis, Systemic-onset juvenile idiopathic arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 25220867
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 21150878
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 28067908, 26192919
Leprosy Leprosy rs121917864, rs2239704 22019778, 20018961
Unknown
Disease name Disease term dbSNP ID References
Crohn disease Crohn Disease rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438 18587394, 21102463, 23128233, 28067908
Pericarditis Pericarditis
Pleural effusion Pleural effusion disorder
Still disease Juvenile-Onset Still Disease 25220867

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