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 forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated re... See more...

Aliases for LACC1 Gene

Aliases for LACC1 Gene

  • Laccase Domain Containing 1 2 3 5
  • Laccase (Multicopper Oxidoreductase) Domain Containing 1 2 3
  • Fatty Acid Metabolism-Immunity Nexus 3 4
  • Laccase Domain-Containing Protein 1 3 4
  • C13orf31 3 4
  • FAMIN 3 4
  • Fatty Acid Metabolism–Immunity Nexus 2
  • Chromosome 13 Open Reading Frame 31 2

External Ids for LACC1 Gene

Previous HGNC Symbols for LACC1 Gene

  • C13orf31

Previous GeneCards Identifiers for LACC1 Gene

  • GC13P044454

Summaries for LACC1 Gene

Entrez Gene Summary for LACC1 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 forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]

GeneCards Summary for LACC1 Gene

LACC1 (Laccase Domain Containing 1) is a Protein Coding gene. Diseases associated with LACC1 include Rheumatoid Arthritis, Systemic Juvenile and Arthritis. An important paralog of this gene is ENSG00000281883.

UniProtKB/Swiss-Prot Summary for LACC1 Gene

  • Central regulator of the metabolic function and bioenergetic state of macrophages. In macrophages, promotes flux through de novo lipogenesis to concomitantly drive high levels of both fatty-acid oxidation and glycolysis.

Additional gene information for LACC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LACC1 Gene

Genomics for LACC1 Gene

GeneHancer (GH) Regulatory Elements for LACC1 Gene

Promoters and enhancers for LACC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J043878 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 523.8 +0.3 317 2.8 TCF12 POLR2G PHF8 ZFX ZIC2 POLR2A CLOCK ZBTB26 KLF4 CHD1 CCDC122 LACC1 ENSG00000274001 ENOX1
GH13J043891 Promoter/Enhancer 0.5 EPDnew Ensembl 517.6 +12.4 12417 1.8 LACC1 CCDC122 ENSG00000280060 ENSG00000281883
GH13J043847 Enhancer 0.8 Ensembl ENCODE 35.4 -31.1 -31128 3.3 FOS FOSL2 CEBPB JUN JUND EP300 GATA2 HLF GATA3 SOX5 CCDC122 LACC1 lnc-CCDC122-2 LOC105370181
GH13J043814 Enhancer 1.1 Ensembl ENCODE dbSUPER 21.6 -63.8 -63783 2.2 JUND FOS ZIC2 ZEB1 NR2F2 WT1 FOSL2 JUN ZNF335 KLF17 LACC1 CCDC122 LOC105370181 ENSG00000287029 lnc-CCDC122-2
GH13J043830 Enhancer 0.7 Ensembl ENCODE 31.7 -48.5 -48484 2 ZNF217 CEBPG FOS CEBPB ATF4 HLF ZFP36 SP7 ZNF7 STAT3 LACC1 CCDC122 LOC105370181 lnc-CCDC122-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LACC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LACC1

Genomic Locations for LACC1 Gene

Genomic Locations for LACC1 Gene
chr13:43,879,284-43,893,933
(GRCh38/hg38)
Size:
14,650 bases
Orientation:
Plus strand
chr13:44,453,420-44,468,068
(GRCh37/hg19)
Size:
14,649 bases
Orientation:
Plus strand

Genomic View for LACC1 Gene

Genes around LACC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LACC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LACC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LACC1 Gene

Proteins for LACC1 Gene

  • Protein details for LACC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IV20-LACC1_HUMAN
    Recommended name:
    Laccase domain-containing protein 1
    Protein Accession:
    Q8IV20
    Secondary Accessions:
    • A2A3Z6
    • Q8N8X5

    Protein attributes for LACC1 Gene

    Size:
    430 amino acids
    Molecular mass:
    47780 Da
    Quaternary structure:
    • Interacts with FASN.

neXtProt entry for LACC1 Gene

Post-translational modifications for LACC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LACC1 Gene

Domains & Families for LACC1 Gene

Gene Families for LACC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LACC1 Gene

Blocks:
  • Protein of unknown function DUF152
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LACC1 Gene

GenScript: Design optimal peptide antigens:
  • UPF0124 protein C13orf31 (CM031_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IV20

UniProtKB/Swiss-Prot:

LACC1_HUMAN :
  • Belongs to the LACC1 family.
Family:
  • Belongs to the LACC1 family.
genes like me logo Genes that share domains with LACC1: view

Function for LACC1 Gene

Molecular function for LACC1 Gene

UniProtKB/Swiss-Prot Function:
Central regulator of the metabolic function and bioenergetic state of macrophages. In macrophages, promotes flux through de novo lipogenesis to concomitantly drive high levels of both fatty-acid oxidation and glycolysis.

Phenotypes From GWAS Catalog for LACC1 Gene

Gene Ontology (GO) - Molecular Function for LACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IBA 21873635
GO:0005515 protein binding IPI 27478939
genes like me logo Genes that share ontologies with LACC1: view
genes like me logo Genes that share phenotypes with LACC1: view

Human Phenotype Ontology for LACC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LACC1 Gene

MGI Knock Outs for LACC1:
  • Lacc1 Lacc1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LACC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LACC1 Gene

Localization for LACC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LACC1 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LACC1 gene
Compartment Confidence
peroxisome 5
cytosol 3
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA,IDA 27478939
genes like me logo Genes that share ontologies with LACC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LACC1 Gene

Pathways & Interactions for LACC1 Gene

PathCards logo

SuperPathways for LACC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LACC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LACC1 Gene

Drugs & Compounds for LACC1 Gene

No Compound Related Data Available

Transcripts for LACC1 Gene

mRNA/cDNA for LACC1 Gene

13 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LACC1

Alternative Splicing Database (ASD) splice patterns (SP) for LACC1 Gene

No ASD Table

Relevant External Links for LACC1 Gene

GeneLoc Exon Structure for
LACC1

Expression for LACC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LACC1 Gene

Protein differential expression in normal tissues from HIPED for LACC1 Gene

This gene is overexpressed in Testis (27.0), Breast (12.7), Stomach (11.7), and Spleen (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LACC1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LACC1

SOURCE GeneReport for Unigene cluster for LACC1 Gene:

Hs.210586

Evidence on tissue expression from TISSUES for LACC1 Gene

  • Kidney(4.2)
  • Pancreas(4)
genes like me logo Genes that share expression patterns with LACC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LACC1 Gene

Orthologs for LACC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LACC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LACC1 30
  • 99.61 (n)
FLJ38725 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LACC1 31 30
  • 89.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LACC1 31 30
  • 88.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lacc1 17 31 30
  • 80.85 (n)
rat
(Rattus norvegicus)
Mammalia Lacc1 30
  • 80.54 (n)
oppossum
(Monodelphis domestica)
Mammalia LACC1 31
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LACC1 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves LACC1 31 30
  • 66.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LACC1 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lacc1 30
  • 61.67 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100005054 30
  • 53.21 (n)
lacc1 31
  • 45 (a)
OneToOne
Species where no ortholog for LACC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LACC1 Gene

ENSEMBL:
Gene Tree for LACC1 (if available)
TreeFam:
Gene Tree for LACC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LACC1: view image

Paralogs for LACC1 Gene

Paralogs for LACC1 Gene

(1) SIMAP similar genes for LACC1 Gene using alignment to 2 proteins:

  • LACC1_HUMAN
  • A2A3Z5_HUMAN
genes like me logo Genes that share paralogs with LACC1: view

Variants for LACC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LACC1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
721083 Benign: not provided 43,881,097(+) A/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
729025 Benign: not provided 43,888,867(+) C/T MISSENSE_VARIANT
743333 Likely Benign: not provided 43,881,408(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs730880295 Likely Pathogenic: not provided. Rheumatoid arthritis systemic juvenile (RASJ) [MIM:604302] 43,883,879(+) T/Cp.Cys284Arg MISSENSE_VARIANT
rs3764147 - p.Ile254Val

Additional dbSNP identifiers (rs#s) for LACC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for LACC1 Gene

Variant ID Type Subtype PubMed ID
nsv524104 CNV loss 19592680
nsv832595 CNV gain 17160897

Variation tolerance for LACC1 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.13; 87.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LACC1 Gene

Human Gene Mutation Database (HGMD)
LACC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LACC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LACC1 Gene

Disorders for LACC1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for LACC1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
rheumatoid arthritis, systemic juvenile
  • systemic juvenile rheumatoid arthritis
arthritis
  • inflammatory disorder of joint
crohn's disease
  • ileitis
ulcerative colitis
  • left-sided ulcerative colitis
colitis
- elite association - COSMIC cancer census association via MalaCards
Search LACC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LACC1_HUMAN
  • Rheumatoid arthritis systemic juvenile (RASJ) [MIM:604302]: An inflammatory articular disorder with systemic-onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis. {ECO:0000269 PubMed:25220867}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Additional Disease Information for LACC1

genes like me logo Genes that share disorders with LACC1: view

No data available for Genatlas for LACC1 Gene

Publications for LACC1 Gene

  1. C13orf31 (FAMIN) is a central regulator of immunometabolic function. (PMID: 27478939) Cader MZ … Kaser A (Nature immunology 2016) 2 3 4 54
  2. Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis. (PMID: 25220867) Wakil SM … Al-Mayouf S (Arthritis & rheumatology (Hoboken, N.J.) 2015) 3 4 54
  3. Association between C13ORF31, NOD2, RIPK2 and TLR10 polymorphisms and urothelial bladder cancer. (PMID: 22504414) Guirado M … Carretero R (Human immunology 2012) 2 3 54
  4. Novel polyphenol oxidase mined from a metagenome expression library of bovine rumen: biochemical properties, structural analysis, and phylogenetic relationships. (PMID: 16740638) Beloqui A … Golyshin PN (The Journal of biological chemistry 2006) 2 3 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for LACC1 Gene

Sources for LACC1 Gene