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 name Gene Name - the full gene name approved by the HGNC.
Laccase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LACC1
Synonyms (NCBI Gene) Gene synonyms aliases
C13orf31, FAMIN, JUVAR
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.11
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
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
Show/Hide all(33)
GO ID Ontology Definition Evidence Reference
GO:0002221 Process Pattern recognition receptor signaling pathway IDA 28593945, 31875558
GO:0002376 Process Immune system process IEA
GO:0002720 Process Positive regulation of cytokine production involved in immune response IDA 28593945
GO:0004000 Function Adenosine deaminase activity IDA 31978345
GO:0004000 Function Adenosine deaminase activity IEA
Other IDs Other 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
613409 26789 ENSG00000179630
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with higher expression levels in immune-related tissues such as lymph nodes and spleen (PubMed:27959965). Expressed in both intestinal and peripheral myeloid-derived cells (PubMed:28593945). {ECO:0000269|PubMed:
Sequence 
MAEAVLIDLFGLKLNSQKNCHQTLLKTLNAVQYHHAAKAKFLCIMCCSNISYERDGEQDN
CEIETSNGLSALLEEFEIVSCPSMAATLYTIKQKIDEKNLSSIKVIVPRHRKTLMKAFID
QLFTDVYNFEFEDLQVTFRGGLFKQSIEINVITAQELRGIQNEIETFLRSLPALRGKLTI
ITSSLIPDIFIHGFTTRTGGISYIPTLSSFNLFSSSKRRDPKVVVQENLRRLANAAGFNV
EKFYRIKTHHSNDIWIMGRKEPDSYDGITTNQRGVTIAALGADCIPIVFADPVKKACGVA
HAGWKGTLLGVAMATVNAMIAEYGCSLEDIVVVLGPSVGPCCFTLPRESAEAFHNLHPAC
VQLFDSPNPCIDIRKATRILLEQGGILPQNIQDQNQDLNLCTSCHPDKFFSHVRDGLNFG
TQIGFISIKE
Sequence length 430
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Purine metabolism
Cysteine and methionine metabolism
Metabolic pathways
Nucleotide metabolism 		 
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Arthritis Juvenile arthritis due to defect in LACC1 rs184370809, rs776489319, rs1594883470, rs1594890601, rs1594882933 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease, Crohn's disease or Leprosy N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Leprosy Leprosy N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Associate 31978345
Arthritis Juvenile Associate 27881174, 27959965, 30872671
Autoimmune Diseases Associate 36604576
Behcet Syndrome Associate 28166214, 29907633, 33393726
Colitis Ulcerative Associate 27959965
Crohn Disease Associate 23135745, 23598818, 27959965, 31978345, 36604576
Granulomatous Disease Chronic Associate 27861181
Inflammatory Bowel Diseases Associate 27861181, 31978345
Joint Diseases Associate 30872671
Leprosy Associate 20018961, 27959965, 28166214, 29706348, 31978345, 32421744, 32433683, 36604576