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Entry version 119 (12 Aug 2020)
Sequence version 1 (01 Mar 2003)
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Protein

Purine nucleoside phosphorylase LACC1

Gene

LACC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 phosphorolysis of S-methyl-5'-thioadenosine into adenine and S-methyl-5-thio-alpha-D-ribose 1-phosphate (PubMed:31978345). Also has adenosine deaminase activity (PubMed:31978345). Acts as a regulator of innate immunity in macrophages by modulating the purine nucleotide metabolism, thereby regulating the metabolic function and bioenergetic state of macrophages (PubMed:31978345). Enables a purine nucleotide cycle between adenosine and inosine monophosphate and adenylosuccinate that prevents cytoplasmic acidification and balances the cytoplasmic-mitochondrial redox interface (PubMed:31978345). The purine nucleotide cycle consumes aspartate and releases fumarate in a manner involving fatty acid oxidation and ATP-citrate lyase activity (PubMed:31978345). Participates in pattern recognition receptor (PRR)-induced cytokines in macrophages: associates with the NOD2-signaling complex and promotes optimal NOD2-induced signaling, cytokine secretion and bacterial clearance (PubMed:28593945, PubMed:31875558). Localizes to the endoplasmic reticulum upon PRR stimulation of macrophages and associates with endoplasmic reticulum-stress sensors, promoting the endoplasmic reticulum unfolded protein response (UPR) (PubMed:31875558). Does not show laccase activity (PubMed:27959965, PubMed:31978345).4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=36 µM for adenosine (for adenosine phosphorylase activity)1 Publication
  2. KM=11 µM for adenosine (for adenosine deaminase activity)1 Publication
  3. KM=41 µM for inosine1 Publication
  4. KM=1 µM for S-methyl-5'-thioadenosine1 Publication
  1. Vmax=4409 pmol/min/mg enzyme with adenosine as substrate (for adenosine phosphorylase activity)1 Publication
  2. Vmax=541 pmol/min/mg enzyme with adenosine as substrate (for adenosine deaminase activity)1 Publication
  3. Vmax=4187 pmol/min/mg enzyme with inosine as substrate1 Publication
  4. Vmax=2639 pmol/min/mg enzyme with S-methyl-5'-thioadenosine as substrate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi250Zinc; catalyticBy similarity1
Metal bindingi284Zinc; catalyticBy similarity1
Metal bindingi301Zinc; catalyticBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Transferase
Biological processImmunity, Inflammatory response, Innate immunity
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8IV20

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Purine nucleoside phosphorylase LACC1Curated (EC:2.4.2.11 Publication)
Alternative name(s):
Adenosine deaminase LACC1Curated (EC:3.5.4.41 Publication)
Fatty acid metabolism-immunity nexus2 Publications
Guanosine phosphorylase LACC1Curated
Laccase domain-containing protein 1Curated
S-methyl-5'-thioadenosine phosphorylase LACC1Curated (EC:2.4.2.281 Publication)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LACC11 PublicationImported
Synonyms:C13orf31Imported, FAMIN2 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000179630.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26789, LACC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613409, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IV20

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Nucleus, Peroxisome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Juvenile rheumatoid arthritis, characterized by an inflammatory disease with autoimmune features beginning before the age of 16 (PubMed:25220867, PubMed:27881174, PubMed:29717096, PubMed:31811059, PubMed:30872671). Rheumatoid arthritis primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures (PubMed:25220867, PubMed:27881174, PubMed:29717096, PubMed:31811059, PubMed:30872671). The phenotype is variable, the majority of patients is associated with systemic inflammation (PubMed:25220867, PubMed:29717096). Some families however display polyarthritis without systemic inflammation (PubMed:31811059). Some patients present rheumatoid factor (RF)-negative polyarticular juvenile idiopathic arthritis (PubMed:30872671). Disease susceptibility is associated with variations affecting the gene represented in this entry (PubMed:25220867, PubMed:27881174, PubMed:29717096, PubMed:31811059, PubMed:30872671).5 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi52Y → A: Does not affect ability to promote pattern recognition receptor (PRR)-induced cytokines in macrophages; when associated with A-89 and A-265. 1 Publication1
Mutagenesisi89Y → A: Does not affect ability to promote pattern recognition receptor (PRR)-induced cytokines in macrophages; when associated with A-52 and A-265. 1 Publication1
Mutagenesisi247K → A: Decreased acetylation; does not affect ability to promote pattern recognition receptor (PRR)-induced cytokines in macrophages. 1 Publication1
Mutagenesisi249 – 250HH → AA: Impaired ability to promote pattern recognition receptor (PRR)-induced cytokines in macrophages. 1 Publication2
Mutagenesisi265Y → A: Does not affect ability to promote pattern recognition receptor (PRR)-induced cytokines in macrophages; when associated with A-52 and A-89. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
144811

MalaCards human disease database

More...
MalaCardsi
LACC1
MIMi604302, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000179630

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
85414, Systemic-onset juvenile idiopathic arthritis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA147358522

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IV20, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LACC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
32171848

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001631871 – 430Purine nucleoside phosphorylase LACC1Add BLAST430

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei247N6-acetyllysine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on tyrosine residues.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IV20

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IV20

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8IV20

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8IV20

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8IV20

PeptideAtlas

More...
PeptideAtlasi
Q8IV20

PRoteomics IDEntifications database

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PRIDEi
Q8IV20

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
70644

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IV20

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8IV20

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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).2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by phorbol 12-myristate 13-acetate (PMA) (PubMed:27959965). Down-regulated by PPAR ligands (PubMed:27959965). Up-regulated upon pattern recognition receptor (PRR) stimulation (PubMed:28593945).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000179630, Expressed in corpus callosum and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IV20, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IV20, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000179630, Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FASN (PubMed:27478939).

Interacts with SDHA (PubMed:28593945).

Interacts with ATF6, EIF2AK3 and ERN1 (PubMed:31875558).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
126879, 38 interactors

Protein interaction database and analysis system

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IntActi
Q8IV20, 64 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000391747

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8IV20, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8IV20

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QUMA, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000000693

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_637703_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IV20

KEGG Orthology (KO)

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KOi
K05810

Identification of Orthologs from Complete Genome Data

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OMAi
FGTQVGF

Database of Orthologous Groups

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OrthoDBi
1186116at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IV20

TreeFam database of animal gene trees

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TreeFami
TF328389

Family and domain databases

Conserved Domains Database

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CDDi
cd16833, YfiH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.60.140.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003730, Cu_polyphenol_OxRdtase
IPR038371, Cu_polyphenol_OxRdtase_sf
IPR011324, Cytotoxic_necrot_fac-like_cat

The PANTHER Classification System

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PANTHERi
PTHR30616, PTHR30616, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02578, Cu-oxidase_4, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF64438, SSF64438, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q8IV20-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEAVLIDLF GLKLNSQKNC HQTLLKTLNA VQYHHAAKAK FLCIMCCSNI
60 70 80 90 100
SYERDGEQDN CEIETSNGLS ALLEEFEIVS CPSMAATLYT IKQKIDEKNL
110 120 130 140 150
SSIKVIVPRH RKTLMKAFID QLFTDVYNFE FEDLQVTFRG GLFKQSIEIN
160 170 180 190 200
VITAQELRGI QNEIETFLRS LPALRGKLTI ITSSLIPDIF IHGFTTRTGG
210 220 230 240 250
ISYIPTLSSF NLFSSSKRRD PKVVVQENLR RLANAAGFNV EKFYRIKTHH
260 270 280 290 300
SNDIWIMGRK EPDSYDGITT NQRGVTIAAL GADCIPIVFA DPVKKACGVA
310 320 330 340 350
HAGWKGTLLG VAMATVNAMI AEYGCSLEDI VVVLGPSVGP CCFTLPRESA
360 370 380 390 400
EAFHNLHPAC VQLFDSPNPC IDIRKATRIL LEQGGILPQN IQDQNQDLNL
410 420 430
CTSCHPDKFF SHVRDGLNFG TQIGFISIKE
Length:430
Mass (Da):47,780
Last modified:March 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i369324C4B4A685A4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2A3Z5A2A3Z5_HUMAN
Purine nucleoside phosphorylase LAC...
LACC1
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_052943254I → V Polymorphism; risk factor for juvenile rheumatoid arthritis; increased adenosine deaminase activity and decreased adenosine phosphorylase activity; reduced ability to promote pattern recognition receptor (PRR)-induced cytokines; reduced NOD2-induced signaling; does not change interaction with FASN. 6 PublicationsCorresponds to variant dbSNP:rs3764147Ensembl.1
Natural variantiVAR_083278278A → P Found in patients with juvenile rheumatoid arthritis; unknown pathological significance. 1 Publication1
Natural variantiVAR_073274284C → R Found in patients with juvenile rheumatoid arthritis; unknown pathological significance; reduced NOD2-induced signaling. 2 PublicationsCorresponds to variant dbSNP:rs730880295EnsemblClinVar.1
Natural variantiVAR_083279414 – 430Missing Found in patients with juvenile rheumatoid arthritis. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK096044 mRNA Translation: BAC04686.1
AL512506 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08701.1
BC035749 mRNA Translation: AAH35749.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9391.1

NCBI Reference Sequences

More...
RefSeqi
NP_001121775.1, NM_001128303.1
NP_694950.2, NM_153218.2
XP_005266318.1, XM_005266261.3
XP_006719829.1, XM_006719766.3
XP_011533235.1, XM_011534933.2
XP_011533236.1, XM_011534934.2
XP_016875883.1, XM_017020394.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000325686; ENSP00000317619; ENSG00000179630
ENST00000441843; ENSP00000391747; ENSG00000179630

Database of genes from NCBI RefSeq genomes

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GeneIDi
144811

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:144811

UCSC genome browser

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UCSCi
uc001uzf.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK096044 mRNA Translation: BAC04686.1
AL512506 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08701.1
BC035749 mRNA Translation: AAH35749.1
CCDSiCCDS9391.1
RefSeqiNP_001121775.1, NM_001128303.1
NP_694950.2, NM_153218.2
XP_005266318.1, XM_005266261.3
XP_006719829.1, XM_006719766.3
XP_011533235.1, XM_011534933.2
XP_011533236.1, XM_011534934.2
XP_016875883.1, XM_017020394.1

3D structure databases

SMRiQ8IV20
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126879, 38 interactors
IntActiQ8IV20, 64 interactors
STRINGi9606.ENSP00000391747

PTM databases

iPTMnetiQ8IV20
PhosphoSitePlusiQ8IV20

Polymorphism and mutation databases

BioMutaiLACC1
DMDMi32171848

Proteomic databases

EPDiQ8IV20
jPOSTiQ8IV20
MassIVEiQ8IV20
MaxQBiQ8IV20
PaxDbiQ8IV20
PeptideAtlasiQ8IV20
PRIDEiQ8IV20
ProteomicsDBi70644

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
23539, 63 antibodies

The DNASU plasmid repository

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DNASUi
144811

Genome annotation databases

EnsembliENST00000325686; ENSP00000317619; ENSG00000179630
ENST00000441843; ENSP00000391747; ENSG00000179630
GeneIDi144811
KEGGihsa:144811
UCSCiuc001uzf.4, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
144811
DisGeNETi144811
EuPathDBiHostDB:ENSG00000179630.10

GeneCards: human genes, protein and diseases

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GeneCardsi
LACC1
HGNCiHGNC:26789, LACC1
HPAiENSG00000179630, Tissue enhanced (brain)
MalaCardsiLACC1
MIMi604302, phenotype
613409, gene
neXtProtiNX_Q8IV20
OpenTargetsiENSG00000179630
Orphaneti85414, Systemic-onset juvenile idiopathic arthritis
PharmGKBiPA147358522

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QUMA, Eukaryota
GeneTreeiENSGT00390000000693
HOGENOMiCLU_637703_0_0_1
InParanoidiQ8IV20
KOiK05810
OMAiFGTQVGF
OrthoDBi1186116at2759
PhylomeDBiQ8IV20
TreeFamiTF328389

Enzyme and pathway databases

PathwayCommonsiQ8IV20

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
144811, 10 hits in 864 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
144811
PharosiQ8IV20, Tbio

Protein Ontology

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PROi
PR:Q8IV20
RNActiQ8IV20, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000179630, Expressed in corpus callosum and 213 other tissues
ExpressionAtlasiQ8IV20, baseline and differential
GenevisibleiQ8IV20, HS

Family and domain databases

CDDicd16833, YfiH, 1 hit
Gene3Di3.60.140.10, 1 hit
InterProiView protein in InterPro
IPR003730, Cu_polyphenol_OxRdtase
IPR038371, Cu_polyphenol_OxRdtase_sf
IPR011324, Cytotoxic_necrot_fac-like_cat
PANTHERiPTHR30616, PTHR30616, 1 hit
PfamiView protein in Pfam
PF02578, Cu-oxidase_4, 1 hit
SUPFAMiSSF64438, SSF64438, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLACC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IV20
Secondary accession number(s): A2A3Z6, Q8N8X5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2003
Last sequence update: March 1, 2003
Last modified: August 12, 2020
This is version 119 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
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