Entity Details

Primary name LACC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IV20
EntryNameLACC1_HUMAN
FullNamePurine nucleoside phosphorylase LACC1
TaxID9606
Evidenceevidence at protein level
Length430
SequenceStatuscomplete
DateCreated2003-06-20
DateModified2021-06-02

Ontological Relatives

GenesLACC1

GO terms

Show/Hide Table
GOName
GO:0002221 pattern recognition receptor signaling pathway
GO:0002720 positive regulation of cytokine production involved in immune response
GO:0004000 adenosine deaminase activity
GO:0004731 purine-nucleoside phosphorylase activity
GO:0005507 copper ion binding
GO:0005634 nucleus
GO:0005777 peroxisome
GO:0005783 endoplasmic reticulum
GO:0006954 inflammatory response
GO:0017061 S-methyl-5-thioadenosine phosphorylase activity
GO:0030641 regulation of cellular pH
GO:0045087 innate immune response
GO:0047975 guanosine phosphorylase activity
GO:0050727 regulation of inflammatory response
GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway
GO:1900542 regulation of purine nucleotide metabolic process

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Endoplasmic reticulum
Nucleus
Peroxisome

Domains

Show/Hide Table
DomainNameCategoryType
IPR003730 Multi-copper polyphenol oxidoreductaseFamilyFamily
IPR011324 Cytotoxic necrotizing factor-like, catalyticFamilyHomologous superfamily
IPR038371 Multi-copper polyphenol oxidoreductase superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
618795 OMIMJuvenile arthritis (JUVAR)A rare, familial form of juvenile arthritis characterized by autosomal recessive inheritance and onset in early childhood of symmetric, chronic joint inflammation. It causes joint swelling, pain, stiffness and restricted joint movement. JUVAR has high clinical variability. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. Others display polyarthritis without systemic inflammation. The disease is caused by variants affecting the gene represented in this entry.
604302 OMIMRheumatoid arthritis systemic juvenile (RASJ)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.

Interactions

3 interactions