LACC1
Purine nucleoside phosphorylase LACC1
Also known as: C13orf31, FAMIN, FLJ38725, LACC1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IV20
- Gene
- LACC1
- Ensembl
- ENSG00000179630
- Chromosome
- 13
- Canonical length
- 430 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
430 residues, UniProt reviewed canonical sequence.
>Q8IV20|LACC1
1 MAEAVLIDLF GLKLNSQKNC HQTLLKTLNA VQYHHAAKAK FLCIMCCSNI SYERDGEQDN
61 CEIETSNGLS ALLEEFEIVS CPSMAATLYT IKQKIDEKNL SSIKVIVPRH RKTLMKAFID
121 QLFTDVYNFE FEDLQVTFRG GLFKQSIEIN VITAQELRGI QNEIETFLRS LPALRGKLTI
181 ITSSLIPDIF IHGFTTRTGG ISYIPTLSSF NLFSSSKRRD PKVVVQENLR RLANAAGFNV
241 EKFYRIKTHH SNDIWIMGRK EPDSYDGITT NQRGVTIAAL GADCIPIVFA DPVKKACGVA
301 HAGWKGTLLG VAMATVNAMI AEYGCSLEDI VVVLGPSVGP CCFTLPRESA EAFHNLHPAC
361 VQLFDSPNPC IDIRKATRIL LEQGGILPQN IQDQNQDLNL CTSCHPDKFF SHVRDGLNFG
421 TQIGFISIKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against LACC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 17 nTPM
Expression across tissuesHPA
Tissue
- midbrain: 17 nTPM
- small intestine: 13 nTPM
- spinal cord: 13 nTPM
- rectum: 13 nTPM
- hippocampal formation: 12 nTPM
- appendix: 12 nTPM
Single-cell type
- cardiomyocytes: 64 nCPM
- epicardial cells: 18 nCPM
- monocytes: 10 nCPM
- macrophages: 8.6 nCPM
- cdc: 8.4 nCPM
- adipocytes: 7.5 nCPM
Immune cell
- non-classical monocyte: 8 nTPM
- intermediate monocyte: 5.2 nTPM
- eosinophil: 3.1 nTPM
- classical monocyte: 3 nTPM
- myeloid DC: 2.7 nTPM
- basophil: 1 nTPM
Brain region
- white matter: 47 nTPM
- basal ganglia: 37 nTPM
- thalamus: 27 nTPM
- cerebral cortex: 23 nTPM
- pons: 23 nTPM
- midbrain: 21 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LACC1.
Disease | AllUniProt
Conditions LACC1 is implicated in, by any mechanism.
- Juvenile arthritis (JUVAR) MIM:618795
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 76 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Juvenile arthritis due to defect in LACC1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.08
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.64
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- inflammatory response
- innate immune response
- nucleotide-binding oligomerization domain containing 2 signaling pathway
- pattern recognition receptor signaling pathway
- positive regulation of cytokine production involved in immune response
- regulation of cellular pH
- regulation of inflammatory response
- regulation of purine nucleotide metabolic process
Molecular functions
- adenosine deaminase activity
- copper ion binding
- guanosine phosphorylase activity
- purine-nucleoside phosphorylase activity
- S-methyl-5-thioadenosine phosphorylase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Multi-copper polyphenol oxidoreductase
- Cytotoxic necrotizing factor-like, catalytic
- Multi-copper polyphenol oxidoreductase superfamily
- Multi-copper polyphenol oxidoreductase laccase
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LACC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LACC1 as an antibody target. Whether an autoantibody or antibody against LACC1 could matter depends on whether native LACC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LACC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LACC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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