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UniProtKB - P00491 (PNPH_HUMAN)

Entry version 223 (25 May 2022)
Sequence version 2 (30 May 2006)
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Protein

Purine nucleoside phosphorylase

Gene

PNP

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

Catalyzes the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate (PubMed:9305964, PubMed:23438750).

Preferentially acts on 6-oxopurine nucleosides including inosine and guanosine (PubMed:9305964).

2 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by 5'-deaza-1'-aza-2c-deoxy-1'-(9-methylene)-Immucilin-G (DADMe-ImmG).1 Publication

<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

kcat is 57 sec(-1) with inosine as substrate (PubMed:9305964). kcat is 47 sec(-1) with inosine as substrate (PubMed:23438750). kcat is 70 sec(-1) with hypoxanthine as substrate (PubMed:9305964). kcat is 28 sec(-1) with guanosine as substrate (PubMed:9305964). kcat is 48 sec(-1) with guanine as substrate (PubMed:9305964). kcat is 0.0024 sec(-1) with adenosine as substrate (PubMed:9305964). kcat is 0.31 sec(-1) with adenine as substrate (PubMed:9305964).2 Publications
  1. KM=45 µM for inosine (at 30 degrees Celsius and pH 7)1 Publication
  2. KM=68 µM for inosine (at 25 degrees Celsius and pH 7.4)1 Publication
  3. KM=10 µM for hypoxanthine (at 30 degrees Celsius and pH 7)1 Publication
  4. KM=6 µM for guanosine (at 30 degrees Celsius and pH 7)1 Publication
  5. KM=12 µM for guanine (at 30 degrees Celsius and pH 7)1 Publication
  6. KM=650 µM for adenosine (at 30 degrees Celsius and pH 7)1 Publication
  7. KM=440 µM for adenine (at 30 degrees Celsius and pH 7)1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: purine nucleoside salvage

This protein is involved in the pathway purine nucleoside salvage, which is part of Purine metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway purine nucleoside salvage and in Purine metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei33PhosphateCombined sources2 Publications1 Publication1
Binding sitei64PhosphateBy similarity1
Binding sitei88Purine nucleosideCombined sources2 Publications1
Binding sitei116Phosphate; via amide nitrogenCombined sources1 Publication2 Publications1
Binding sitei201Purine nucleosideCombined sources1 Publication2 Publications1
Binding sitei219Purine nucleosideCombined sources1 Publication1
Binding sitei220PhosphateCombined sources1 Publication2 Publications1
Binding sitei243Purine nucleosideCombined sources1 Publication2 Publications1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei243Important for substrate specificity1 Publication1
Binding sitei257Purine nucleosideCombined sources1 Publication1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionGlycosyltransferase, Transferase
Biological processPurine salvage

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.2.1, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P00491

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6798695, Neutrophil degranulation
R-HSA-74217, Purine salvage
R-HSA-74259, Purine catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P00491

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P00491

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00606

<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 (EC:2.4.2.12 Publications)
Short name:
PNP
Alternative name(s):
Inosine phosphorylase
Inosine-guanosine phosphorylase
<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:PNP
Synonyms:NP
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7892, PNP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		164050, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P00491

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198805

<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

Keywords - Cellular componenti

Cytoplasm

<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

Purine nucleoside phosphorylase deficiency (PNPD)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment.
Related information in OMIM
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_00224489E → K in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894453EnsemblClinVar.1
Natural variantiVAR_002245128D → G in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894450EnsemblClinVar.1
Natural variantiVAR_002246174A → P in PNPD. Corresponds to variant dbSNP:rs104894454EnsemblClinVar.1
Natural variantiVAR_010653192Y → C in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894452EnsemblClinVar.1
Natural variantiVAR_002247234R → P in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894451EnsemblClinVar.1

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>Mutagenesisi64H → W: Reduces catalytic activity towards inosine. 1 Publication1
Mutagenesisi201E → A or Q: Severe loss of catalytic activity. 1 Publication1
Mutagenesisi243N → A: Reduces catalytic activity. 1 Publication1
Mutagenesisi243N → D: Reduces catalytic activity towards inosine, hypoxanthine, guanosine and guanine. Increases catalytic activity towards adenosine and adenine. 1 Publication1
Mutagenesisi257H → W: Reduces catalytic activity towards inosine. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4860

MalaCards human disease database

More...MalaCardsi		PNP
MIMi613179, phenotype

Open Targets

More...OpenTargetsi		ENSG00000198805

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

More...Orphaneti		760, Purine nucleoside phosphorylase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31694

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P00491, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4338

Drug and drug target database

More...DrugBanki		DB03881, (2S,3R,4S,5S)-3,4-Dihydroxy-2-[(methylsulfanyl)methyl]-5-(4-oxo-4,5-dihydro-1H-pyrrolo[3,2-d]pyrimidin-7-yl)pyrrolidinium
DB03551, (3R,4R)-3-Hydroxy-4-(hydroxymethyl)-1-[(4-oxo-4,4a,5,7a-tetrahydro-3H-pyrrolo[3,2-d]pyrimidin-7-yl)methyl]pyrrolidinium
DB02222, 2,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]Purine
DB02391, 2-Amino-7-[2-(2-Hydroxy-1-Hydroxymethyl-Ethylamino)-Ethyl]-1,7-Dihydro-Purin-6-One
DB03609, 3'-deoxyguanosine
DB01667, 8-azaguanine
DB04260, 9-(5,5-Difluoro-5-Phosphonopentyl)Guanine
DB02796, 9-deazainosine
DB04753, 9-DEAZAINOSINE-2',3'-O-ETHYLIDENEPHOSPHONATE
DB00640, Adenosine
DB00242, Cladribine
DB00900, Didanosine
DB06185, Forodesine
DB02377, Guanine
DB02857, Guanosine
DB04754, GUANOSINE-2',3'-O-ETHYLIDENEPHOSPHONATE
DB04757, GUANOSINE-2',3'-O-METHYLIDENEPHOSPHONATE
DB04076, Hypoxanthine
DB02230, Immucillin-G
DB04335, Inosine
DB02568, Peldesine
DB03101, Ribose-1-Phosphate

DrugCentral

More...DrugCentrali		P00491

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2841

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PNP

Domain mapping of disease mutations (DMDM)

More...DMDMi		108935929

<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_00001845361 – 289Purine nucleoside phosphorylaseAdd BLAST289

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 residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei251PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-570
CPTAC-571

Encyclopedia of Proteome Dynamics

More...EPDi		P00491

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P00491

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P00491

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

More...PaxDbi		P00491

PeptideAtlas

More...PeptideAtlasi		P00491

PRoteomics IDEntifications database

More...PRIDEi		P00491

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51256

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P00491

2D gel databases

USC-OGP 2-DE database

More...OGPi		P00491

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P00491, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P00491

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P00491

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

More...PhosphoSitePlusi		P00491

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P00491

<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

Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000198805, Expressed in corpus epididymis and 212 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P00491, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P00491, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000198805, Tissue enhanced (bone marrow, epididymis)

<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

Homotrimer.

1 Publication

<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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110921, 60 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P00491

Database of interacting proteins

More...DIPi		DIP-50406N

Protein interaction database and analysis system

More...IntActi		P00491, 30 interactors

Molecular INTeraction database

More...MINTi		P00491

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000354532

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P00491

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P00491, 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

Secondary structure

1289
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P00491

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

More...SMRi		P00491

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P00491

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni84 – 86Phosphate bindingCombined sources2 Publications1 Publication3

<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

Belongs to the PNP/MTAP phosphorylase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3984, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182991

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_054456_1_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P00491

Identification of Orthologs from Complete Genome Data

More...OMAi		EGVYAQF

Database of Orthologous Groups

More...OrthoDBi		1078969at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P00491

TreeFam database of animal gene trees

More...TreeFami		TF300049

Family and domain databases

Conserved Domains Database

More...CDDi		cd09009, PNP-EcPNPII_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.1580, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000845, Nucleoside_phosphorylase_d
IPR035994, Nucleoside_phosphorylase_sf
IPR011270, Pur_Nuc_Pase_Ino/Guo-sp
IPR011268, Purine_phosphorylase
IPR018099, Purine_phosphorylase-2_CS

The PANTHER Classification System

More...PANTHERi		PTHR11904, PTHR11904, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01048, PNP_UDP_1, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000477, PurNPase, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53167, SSF53167, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01700, PNPH, 1 hit
TIGR01697, PNPH-PUNA-XAPA, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01240, PNP_MTAP_2, 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 3 potential isoforms that are computationally mapped.Show allAlign All

P00491-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MENGYTYEDY KNTAEWLLSH TKHRPQVAII CGSGLGGLTD KLTQAQIFDY 
        60         70         80         90        100
GEIPNFPRST VPGHAGRLVF GFLNGRACVM MQGRFHMYEG YPLWKVTFPV 
       110        120        130        140        150
RVFHLLGVDT LVVTNAAGGL NPKFEVGDIM LIRDHINLPG FSGQNPLRGP 
       160        170        180        190        200
NDERFGDRFP AMSDAYDRTM RQRALSTWKQ MGEQRELQEG TYVMVAGPSF 
       210        220        230        240        250
ETVAECRVLQ KLGADAVGMS TVPEVIVARH CGLRVFGFSL ITNKVIMDYE 
       260        270        280 
SLEKANHEEV LAAGKQAAQK LEQFVSILMA SIPLPDKAS
Length:289
Mass (Da):32,118
Last modified:May 30, 2006 - v2
<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:i91622FB1D26479D3
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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5M2G3V5M2_HUMAN
Purine-nucleoside phosphorylase
PNP
221Annotation score:

Annotation score:3 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>
G3V393G3V393_HUMAN
Purine-nucleoside phosphorylase
PNP
61Annotation score:

Annotation score:2 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>
G3V2H3G3V2H3_HUMAN
Purine nucleoside phosphorylase
PNP
93Annotation 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
Natural variantiVAR_00224351G → S5 PublicationsCorresponds to variant dbSNP:rs1049564EnsemblClinVar.1
Natural variantiVAR_00224489E → K in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894453EnsemblClinVar.1
Natural variantiVAR_002245128D → G in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894450EnsemblClinVar.1
Natural variantiVAR_002246174A → P in PNPD. Corresponds to variant dbSNP:rs104894454EnsemblClinVar.1
Natural variantiVAR_010653192Y → C in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894452EnsemblClinVar.1
Natural variantiVAR_002247234R → P in PNPD. 1 PublicationCorresponds to variant dbSNP:rs104894451EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X00737 mRNA Translation: CAA25320.1
M13953 M13952 Genomic DNA Translation: AAA36460.1
AY817667 Genomic DNA Translation: AAV68044.1
AK313490 mRNA Translation: BAG36272.1
CR407607 mRNA Translation: CAG28535.1
CH471078 Genomic DNA Translation: EAW66458.1
CH471078 Genomic DNA Translation: EAW66459.1
BC104206 mRNA Translation: AAI04207.1
BC104207 mRNA Translation: AAI04208.1
BC106074 mRNA Translation: AAI06075.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9552.1

Protein sequence database of the Protein Information Resource

More...PIRi		A00578, PHHUPN

NCBI Reference Sequences

More...RefSeqi		NP_000261.2, NM_000270.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000361505.10; ENSP00000354532.6; ENSG00000198805.12

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4860

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4860

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000361505.10; ENSP00000354532.6; NM_000270.4; NP_000261.2

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NPbase

NP mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X00737 mRNA Translation: CAA25320.1
M13953 M13952 Genomic DNA Translation: AAA36460.1
AY817667 Genomic DNA Translation: AAV68044.1
AK313490 mRNA Translation: BAG36272.1
CR407607 mRNA Translation: CAG28535.1
CH471078 Genomic DNA Translation: EAW66458.1
CH471078 Genomic DNA Translation: EAW66459.1
BC104206 mRNA Translation: AAI04207.1
BC104207 mRNA Translation: AAI04208.1
BC106074 mRNA Translation: AAI06075.1
CCDSiCCDS9552.1
PIRiA00578, PHHUPN
RefSeqiNP_000261.2, NM_000270.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M73X-ray2.30E2-289[»]
1PF7X-ray2.60E1-289[»]
1PWYX-ray2.80E2-289[»]
1RCTX-ray2.80E2-289[»]
1RFGX-ray2.90E2-289[»]
1RR6X-ray2.50A1-289[»]
1RSZX-ray2.20A1-289[»]
1RT9X-ray2.30A1-289[»]
1ULAX-ray2.75A1-289[»]
1ULBX-ray2.75A1-289[»]
1V2HX-ray2.70E2-289[»]
1V3QX-ray2.80E2-289[»]
1V41X-ray2.85E2-289[»]
1V45X-ray2.86E2-289[»]
1YRYX-ray2.80E1-289[»]
2A0WX-ray2.28A1-289[»]
2A0XX-ray2.28A1-289[»]
2A0YX-ray2.28A1-289[»]
2OC4X-ray2.59A1-289[»]
2OC9X-ray2.59A1-289[»]
2ON6X-ray2.50A1-289[»]
2Q7OX-ray2.90E1-289[»]
3BGSX-ray2.10A1-289[»]
3D1VX-ray2.70A1-289[»]
3GB9X-ray2.30A/B/C1-289[»]
3GGSX-ray2.52A/B/C1-289[»]
3INYX-ray2.75A1-289[»]
3K8OX-ray2.40E/Q/S/T/U/Y1-289[»]
3K8QX-ray2.50A1-289[»]
3PHBX-ray2.30E/Q/S/T/U/Y1-289[»]
4EARX-ray1.70A/B/C1-289[»]
4EB8X-ray2.30A/B/C1-289[»]
4ECEX-ray2.60A/B/C/D/E/F1-289[»]
4GKAX-ray2.20A/B/C/D/E/F1-289[»]
5ETJX-ray2.30A/B/C/D/E/F1-289[»]
5UGFX-ray2.20A/B/C/D/E/F1-289[»]
AlphaFoldDBiP00491
SMRiP00491
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110921, 60 interactors
CORUMiP00491
DIPiDIP-50406N
IntActiP00491, 30 interactors
MINTiP00491
STRINGi9606.ENSP00000354532

Chemistry databases

BindingDBiP00491
ChEMBLiCHEMBL4338
DrugBankiDB03881, (2S,3R,4S,5S)-3,4-Dihydroxy-2-[(methylsulfanyl)methyl]-5-(4-oxo-4,5-dihydro-1H-pyrrolo[3,2-d]pyrimidin-7-yl)pyrrolidinium
DB03551, (3R,4R)-3-Hydroxy-4-(hydroxymethyl)-1-[(4-oxo-4,4a,5,7a-tetrahydro-3H-pyrrolo[3,2-d]pyrimidin-7-yl)methyl]pyrrolidinium
DB02222, 2,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]Purine
DB02391, 2-Amino-7-[2-(2-Hydroxy-1-Hydroxymethyl-Ethylamino)-Ethyl]-1,7-Dihydro-Purin-6-One
DB03609, 3'-deoxyguanosine
DB01667, 8-azaguanine
DB04260, 9-(5,5-Difluoro-5-Phosphonopentyl)Guanine
DB02796, 9-deazainosine
DB04753, 9-DEAZAINOSINE-2',3'-O-ETHYLIDENEPHOSPHONATE
DB00640, Adenosine
DB00242, Cladribine
DB00900, Didanosine
DB06185, Forodesine
DB02377, Guanine
DB02857, Guanosine
DB04754, GUANOSINE-2',3'-O-ETHYLIDENEPHOSPHONATE
DB04757, GUANOSINE-2',3'-O-METHYLIDENEPHOSPHONATE
DB04076, Hypoxanthine
DB02230, Immucillin-G
DB04335, Inosine
DB02568, Peldesine
DB03101, Ribose-1-Phosphate
DrugCentraliP00491
GuidetoPHARMACOLOGYi2841

PTM databases

GlyGeniP00491, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP00491
MetOSiteiP00491
PhosphoSitePlusiP00491
SwissPalmiP00491

Genetic variation databases

BioMutaiPNP
DMDMi108935929

2D gel databases

OGPiP00491

Proteomic databases

CPTACiCPTAC-570
CPTAC-571
EPDiP00491
jPOSTiP00491
MassIVEiP00491
PaxDbiP00491
PeptideAtlasiP00491
PRIDEiP00491
ProteomicsDBi51256
TopDownProteomicsiP00491

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		766, 320 antibodies from 35 providers

The DNASU plasmid repository

More...DNASUi		4860

Genome annotation databases

EnsembliENST00000361505.10; ENSP00000354532.6; ENSG00000198805.12
GeneIDi4860
KEGGihsa:4860
MANE-SelectiENST00000361505.10; ENSP00000354532.6; NM_000270.4; NP_000261.2

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4860
DisGeNETi4860

GeneCards: human genes, protein and diseases

More...GeneCardsi		PNP
HGNCiHGNC:7892, PNP
HPAiENSG00000198805, Tissue enhanced (bone marrow, epididymis)
MalaCardsiPNP
MIMi164050, gene
613179, phenotype
neXtProtiNX_P00491
OpenTargetsiENSG00000198805
Orphaneti760, Purine nucleoside phosphorylase deficiency
PharmGKBiPA31694
VEuPathDBiHostDB:ENSG00000198805

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3984, Eukaryota
GeneTreeiENSGT00950000182991
HOGENOMiCLU_054456_1_2_1
InParanoidiP00491
OMAiEGVYAQF
OrthoDBi1078969at2759
PhylomeDBiP00491
TreeFamiTF300049

Enzyme and pathway databases

UniPathwayiUPA00606
BRENDAi2.4.2.1, 2681
PathwayCommonsiP00491
ReactomeiR-HSA-6798695, Neutrophil degranulation
R-HSA-74217, Purine salvage
R-HSA-74259, Purine catabolism
SABIO-RKiP00491
SignaLinkiP00491

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4860, 10 hits in 1082 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PNP, human
EvolutionaryTraceiP00491

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Purine_nucleoside_phosphorylase

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

More...GenomeRNAii		4860
PharosiP00491, Tclin

Protein Ontology

More...PROi		PR:P00491
RNActiP00491, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000198805, Expressed in corpus epididymis and 212 other tissues
ExpressionAtlasiP00491, baseline and differential
GenevisibleiP00491, HS

Family and domain databases

CDDicd09009, PNP-EcPNPII_like, 1 hit
Gene3Di3.40.50.1580, 1 hit
InterProiView protein in InterPro
IPR000845, Nucleoside_phosphorylase_d
IPR035994, Nucleoside_phosphorylase_sf
IPR011270, Pur_Nuc_Pase_Ino/Guo-sp
IPR011268, Purine_phosphorylase
IPR018099, Purine_phosphorylase-2_CS
PANTHERiPTHR11904, PTHR11904, 1 hit
PfamiView protein in Pfam
PF01048, PNP_UDP_1, 1 hit
PIRSFiPIRSF000477, PurNPase, 1 hit
SUPFAMiSSF53167, SSF53167, 1 hit
TIGRFAMsiTIGR01700, PNPH, 1 hit
TIGR01697, PNPH-PUNA-XAPA, 1 hit
PROSITEiView protein in PROSITE
PS01240, PNP_MTAP_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiPNPH_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: P00491
Secondary accession number(s): B2R8S5
, D3DS00, Q15160, Q5PZ03
<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: July 21, 1986
Last sequence update: May 30, 2006
Last modified: May 25, 2022
This is version 223 of the entry and version 2 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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