Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	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

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

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
MIRT620120	hsa-miR-6733-5p	HITS-CLIP	23824327
MIRT620119	hsa-miR-6739-5p	HITS-CLIP	23824327
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
MIRT620120	hsa-miR-6733-5p	HITS-CLIP	23824327
MIRT620119	hsa-miR-6739-5p	HITS-CLIP	23824327

Show/Hide all(18)

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
GO:0005515	Function	Protein binding	IPI	27478939
GO:0005634	Component	Nucleus	ISS
GO:0005777	Component	Peroxisome	IDA	27478939, 27959965
GO:0005783	Component	Endoplasmic reticulum	IDA	31875558
GO:0006954	Process	Inflammatory response	IEA
GO:0016682	Function	Oxidoreductase activity, acting on diphenols and related substances as donors, oxygen as acceptor	IDA	27959965, 31978345
GO:0017061	Function	S-methyl-5-thioadenosine phosphorylase activity	IDA	31978345
GO:0030641	Process	Regulation of cellular pH	IDA	31978345
GO:0045087	Process	Innate immune response	IEA
GO:0047975	Function	Guanosine phosphorylase activity	IDA	31978345
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0070431	Process	Nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	31875558
GO:1900542	Process	Regulation of purine nucleotide metabolic process	ISS

MIM	HGNC	e!Ensembl
613409	26789	ENSG00000179630

Protein

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

	KEGG
	Purine metabolism Cysteine and methionine metabolism Metabolic pathways Nucleotide metabolism

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Systemic onset juvenile chronic arthritis, Juvenile arthritis, Systemic-onset juvenile idiopathic arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	25220867
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908, 26192919
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	22190364
Rheumatoid arthritis	Rheumatoid Arthritis, Systemic Juvenile	rs587776843	25220867

Show/Hide Unknown Diseases (5)

Disease term	Disease name	References	Source
Unknown
Asthma	Asthma	21150878	ClinVar
Crohn disease	Crohn Disease	18587394, 21102463, 23128233, 28067908	ClinVar
Leprosy	Leprosy	22019778, 20018961	ClinVar, GWAS
Crohn Disease	Crohn Disease		GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Leprosy Paucibacillary	Associate	20018961

LACC1 (laccase domain containing 1)