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Protein

Ribose-phosphate pyrophosphokinase 1

Gene

PRPS1

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 synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

<p>This subsection of the ‘Function’ 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

Activated by magnesium and inorganic phosphate.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I).
Proteins known to be involved in this subpathway in this organism are:
  1. Ribose-phosphate pyrophosphokinase 2 (PRPS2), Ribose-phosphate pyrophosphokinase 1 (PRPS1), Ribose-phosphate pyrophosphokinase 3 (PRPS1L1)
This subpathway is part of the pathway 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis, which is itself part of Metabolic intermediate biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I), the pathway 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis and in Metabolic intermediate biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi128MagnesiumSequence analysis1
Metal bindingi130MagnesiumSequence analysis1
<p>This subsection of the ‘Function’ 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 sitei130ATP1
Metal bindingi139MagnesiumSequence analysis1
Metal bindingi143MagnesiumSequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi96 – 101ATP6

<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 functionKinase, Transferase
Biological processNucleotide biosynthesis
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS07410-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.7.6.1 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-73843 5-Phosphoribose 1-diphosphate biosynthesis

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

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UniPathwayi
UPA00087;UER00172

<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_and_taxonomy_section">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:
Ribose-phosphate pyrophosphokinase 1 (EC:2.7.6.1)
Alternative name(s):
PPRibP
Phosphoribosyl pyrophosphate synthase I
Short name:
PRS-I
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:PRPS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000147224.10

Human Gene Nomenclature Database

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HGNCi
HGNC:9462 PRPS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
311850 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P60891

<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; Source: COMPARTMENTS

<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

Phosphoribosyl pyrophosphate synthetase I deficiency is a rare condition caused by mutations in PRPS1 that lead to variable disease phenotypes including optic atrophy, retinitis pigmentosa, ataxia, peripheral neuropathy and hearing loss.1 Publication
Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionFamilial disorder characterized by excessive purine production, gout and uric acid urolithiasis.
See also OMIM:300661
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_01604452D → H in PRPS1 superactivity. 1 PublicationCorresponds to variant dbSNP:rs137852542EnsemblClinVar.1
Natural variantiVAR_004163114N → S in PRPS1 superactivity. 2 PublicationsCorresponds to variant dbSNP:rs137852540EnsemblClinVar.1
Natural variantiVAR_016045129L → I in PRPS1 superactivity. 1 PublicationCorresponds to variant dbSNP:rs137852543EnsemblClinVar.1
Natural variantiVAR_004164183D → H in PRPS1 superactivity. 2 PublicationsCorresponds to variant dbSNP:rs137852541EnsemblClinVar.1
Natural variantiVAR_016046190A → V in PRPS1 superactivity. 1 PublicationCorresponds to variant dbSNP:rs137852544EnsemblClinVar.1
Natural variantiVAR_016047193H → Q in PRPS1 superactivity. 1 PublicationCorresponds to variant dbSNP:rs137852545EnsemblClinVar.1
Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
See also OMIM:311070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03694143E → D in CMTX5. 1 PublicationCorresponds to variant dbSNP:rs80338731EnsemblClinVar.1
Natural variantiVAR_036942115M → T in CMTX5. 1 PublicationCorresponds to variant dbSNP:rs80338732EnsemblClinVar.1
ARTS syndrome (ARTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.
See also OMIM:301835
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036943133Q → P in ARTS. 1 PublicationCorresponds to variant dbSNP:rs80338675EnsemblClinVar.1
Natural variantiVAR_036944152L → P in ARTS. 1 PublicationCorresponds to variant dbSNP:rs80338676EnsemblClinVar.1
Deafness, X-linked, 1 (DFNX1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.
See also OMIM:304500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06352265D → N in DFNX1. 1 PublicationCorresponds to variant dbSNP:rs180177151EnsemblClinVar.1
Natural variantiVAR_06352387A → T in DFNX1. 1 PublicationCorresponds to variant dbSNP:rs180177152EnsemblClinVar.1
Natural variantiVAR_063524290I → T in DFNX1. 1 PublicationCorresponds to variant dbSNP:rs180177153EnsemblClinVar.1
Natural variantiVAR_063525306G → R in DFNX1. 1 PublicationCorresponds to variant dbSNP:rs180177154EnsemblClinVar.1
A mutation in PRPS1 has been found in a patient with a phenotype that bridges that of PRSPS1 superactivity and ARTS syndrome with uric acid overproduction without gout but with recurrent infections, sensorineural hearing loss and motor neuropathy. The intermediate phenotype may be because Leu-142 variant affects both allosteric sites that are involved in inhibition of PRPS1 and the ATP-binding site, which suggests that this substitution can result both in a gain-of-function and loss-of-function of PRPP synthetase.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi132S → A: Reduces catalytic activity. 1 Publication1
Mutagenesisi132S → F: No effect on catalytic activity. 1 Publication1
Mutagenesisi144N → H: No effect on catalytic activity. 1 Publication1
Mutagenesisi146Y → F: No effect on catalytic activity. 1 Publication1
Mutagenesisi146Y → M: Reduces catalytic activity. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Deafness, Disease mutation, Gout, Mental retardation, Neurodegeneration, Neuropathy, Non-syndromic deafness, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
5631

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PRPS1

MalaCards human disease database

More...
MalaCardsi
PRPS1
MIMi300661 phenotype
301835 phenotype
304500 phenotype
311070 phenotype

Open Targets

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OpenTargetsi
ENSG00000147224

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

More...
Orphaneti
1187 Lethal ataxia with deafness and optic atrophy
411536 Mild phosphoribosylpyrophosphate synthetase superactivity
411543 Severe phosphoribosylpyrophosphate synthetase superactivity
99014 X-linked Charcot-Marie-Tooth disease type 5
423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
90625 X-linked non-syndromic sensorineural deafness type DFN

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33817

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2638

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PRPS1

Domain mapping of disease mutations (DMDM)

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DMDMi
46397477

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001410712 – 318Ribose-phosphate pyrophosphokinase 1Add BLAST317

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P60891

MaxQB - The MaxQuant DataBase

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MaxQBi
P60891

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

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PaxDbi
P60891

PeptideAtlas

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PeptideAtlasi
P60891

PRoteomics IDEntifications database

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PRIDEi
P60891

ProteomicsDB human proteome resource

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ProteomicsDBi
57233

2D gel databases

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
P60891

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P60891

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

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PhosphoSitePlusi
P60891

SwissPalm database of S-palmitoylation events

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SwissPalmi
P60891

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000147224 Expressed in 232 organ(s), highest expression level in left coronary artery

CleanEx database of gene expression profiles

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CleanExi
HS_PRPS1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P60891 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P60891 HS

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. The active form is probably a hexamer composed of 3 homodimers.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111615, 58 interactors

Database of interacting proteins

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DIPi
DIP-61999N

Protein interaction database and analysis system

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IntActi
P60891, 19 interactors

Molecular INTeraction database

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MINTi
P60891

STRING: functional protein association networks

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STRINGi
9606.ENSP00000361512

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P60891

<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

1318
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P60891

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

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SMRi
P60891

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P60891

<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>Regioni212 – 227Binding of phosphoribosylpyrophosphateSequence analysisAdd BLAST16

<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
KOG1448 Eukaryota
COG0462 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153150

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000210451

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG001520

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P60891

KEGG Orthology (KO)

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KOi
K00948

Identification of Orthologs from Complete Genome Data

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OMAi
FGWARQD

Database of Orthologous Groups

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OrthoDBi
EOG091G0ZG8

Database for complete collections of gene phylogenies

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PhylomeDBi
P60891

TreeFam database of animal gene trees

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TreeFami
TF106366

Family and domain databases

Conserved Domains Database

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CDDi
cd06223 PRTases_typeI, 1 hit

HAMAP database of protein families

More...
HAMAPi
MF_00583_B RibP_PPkinase_B, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000842 PRib_PP_synth_CS
IPR029099 Pribosyltran_N
IPR000836 PRibTrfase_dom
IPR029057 PRTase-like
IPR005946 Rib-P_diPkinase
IPR037515 Rib-P_diPkinase_bac

The PANTHER Classification System

More...
PANTHERi
PTHR10210 PTHR10210, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14572 Pribosyl_synth, 1 hit
PF13793 Pribosyltran_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53271 SSF53271, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01251 ribP_PPkin, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00114 PRPP_SYNTHASE, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P60891-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPNIKIFSGS SHQDLSQKIA DRLGLELGKV VTKKFSNQET CVEIGESVRG
60 70 80 90 100
EDVYIVQSGC GEINDNLMEL LIMINACKIA SASRVTAVIP CFPYARQDKK
110 120 130 140 150
DKSRAPISAK LVANMLSVAG ADHIITMDLH ASQIQGFFDI PVDNLYAEPA
160 170 180 190 200
VLKWIRENIS EWRNCTIVSP DAGGAKRVTS IADRLNVDFA LIHKERKKAN
210 220 230 240 250
EVDRMVLVGD VKDRVAILVD DMADTCGTIC HAADKLLSAG ATRVYAILTH
260 270 280 290 300
GIFSGPAISR INNACFEAVV VTNTIPQEDK MKHCSKIQVI DISMILAEAI
310
RRTHNGESVS YLFSHVPL
Length:318
Mass (Da):34,834
Last modified:January 23, 2007 - 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:i46D017E969908BA0
GO
Isoform 2 (identifier: P60891-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.

Note: No experimental confirmation available.
Show »
Length:251
Mass (Da):27,526
Checksum:iA43F363C2E2ECF33
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y7H4A0A2R8Y7H4_HUMAN
Ribose-phosphate pyrophosphokinase
PRPS1
321Annotation 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>
B7ZB02B7ZB02_HUMAN
Ribose-phosphate pyrophosphokinase ...
PRPS1
114Annotation 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>
B1ALA9B1ALA9_HUMAN
Ribose-phosphate pyrophosphokinase ...
PRPS1
285Annotation 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>
B1ALA7B1ALA7_HUMAN
Ribose-phosphate pyrophosphokinase ...
PRPS1
168Annotation 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>
Q15244Q15244_HUMAN
Phosphoribosylpyrophosphate synthet...
PRPS1
40Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti82A → G in BAG35584 (PubMed:14702039).Curated1
Sequence conflicti122D → G in BAG35584 (PubMed:14702039).Curated1
Sequence conflicti278E → G in BAG35584 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07271916S → P Probable disease-associated mutation found in patients with phosphoribosyl pyrophosphate synthetase I deficiency. 1 PublicationCorresponds to variant dbSNP:rs869025594EnsemblClinVar.1
Natural variantiVAR_03694143E → D in CMTX5. 1 PublicationCorresponds to variant dbSNP:rs80338731EnsemblClinVar.1
Natural variantiVAR_01604452D → H in PRPS1 superactivity. 1 PublicationCorresponds to variant dbSNP:rs137852542EnsemblClinVar.1
Natural variantiVAR_06352265D → N in DFNX1. 1 PublicationCorresponds to variant dbSNP:rs180177151EnsemblClinVar.1
Natural variantiVAR_06352387A → T in DFNX1. 1 PublicationCorresponds to variant dbSNP:rs180177152EnsemblClinVar.1
Natural variantiVAR_004163114N → S in PRPS1 superactivity. 2 PublicationsCorresponds to variant dbSNP:rs137852540EnsemblClinVar.1
Natural variantiVAR_036942115M → T in CMTX5. 1 PublicationCorresponds to variant dbSNP:rs80338732EnsemblClinVar.1
Natural variantiVAR_016045129L → I in PRPS1 superactivity. 1 PublicationCorresponds to variant dbSNP:rs137852543EnsemblClinVar.1
Natural variantiVAR_036943133Q → P in ARTS. 1 PublicationCorresponds to variant dbSNP:rs80338675EnsemblClinVar.1
Natural variantiVAR_078489142V → L Probable disease-associated mutation found in a patient with an intermediate phenotype between ARTS and PRPS1 superactivity; normal PRPP synthetase activity in fibroblasts; loss of activity in erythrocytes. 1 PublicationCorresponds to variant dbSNP:rs398122855EnsemblClinVar.1
Natural variantiVAR_036944152L → P in ARTS. 1 PublicationCorresponds to variant dbSNP:rs80338676EnsemblClinVar.1
Natural variantiVAR_004164183D → H in PRPS1 superactivity. 2 PublicationsCorresponds to variant dbSNP:rs137852541EnsemblClinVar.1
Natural variantiVAR_016046190A → V in PRPS1 superactivity. 1 PublicationCorresponds to variant dbSNP:rs137852544EnsemblClinVar.1
Natural variantiVAR_016047193H → Q in PRPS1 superactivity. 1 PublicationCorresponds to variant dbSNP:rs137852545EnsemblClinVar.1
Natural variantiVAR_036593203D → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036594219V → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_036595231H → D in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_063524290I → T in DFNX1. 1 PublicationCorresponds to variant dbSNP:rs180177153EnsemblClinVar.1
Natural variantiVAR_063525306G → R in DFNX1. 1 PublicationCorresponds to variant dbSNP:rs180177154EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0560281 – 67Missing in isoform 2. 1 PublicationAdd BLAST67

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
X15331 mRNA Translation: CAA33386.1
D00860 mRNA Translation: BAA00733.1
AK297968 mRNA Translation: BAG60278.1
AK312706 mRNA Translation: BAG35584.1
AL137787 Genomic DNA No translation available.
AL772400 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02709.1
CH471120 Genomic DNA Translation: EAX02710.1
CH471120 Genomic DNA Translation: EAX02711.1
BC001605 mRNA Translation: AAH01605.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14529.1 [P60891-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
JX0159 KIHUR1

NCBI Reference Sequences

More...
RefSeqi
NP_001191331.1, NM_001204402.1
NP_002755.1, NM_002764.3 [P60891-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.56

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000372435; ENSP00000361512; ENSG00000147224 [P60891-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5631

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5631

UCSC genome browser

More...
UCSCi
uc004ene.5 human [P60891-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
X15331 mRNA Translation: CAA33386.1
D00860 mRNA Translation: BAA00733.1
AK297968 mRNA Translation: BAG60278.1
AK312706 mRNA Translation: BAG35584.1
AL137787 Genomic DNA No translation available.
AL772400 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02709.1
CH471120 Genomic DNA Translation: EAX02710.1
CH471120 Genomic DNA Translation: EAX02711.1
BC001605 mRNA Translation: AAH01605.1
CCDSiCCDS14529.1 [P60891-1]
PIRiJX0159 KIHUR1
RefSeqiNP_001191331.1, NM_001204402.1
NP_002755.1, NM_002764.3 [P60891-1]
UniGeneiHs.56

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
2H06X-ray2.20A/B1-318[»]
2H07X-ray2.20A/B1-318[»]
2H08X-ray2.50A/B1-318[»]
2HCRX-ray2.20A/B1-318[»]
3EFHX-ray2.60A/B1-318[»]
3S5JX-ray2.02A/B1-318[»]
4F8EX-ray2.27A/B1-318[»]
4LYGX-ray3.00A/B1-318[»]
4LZNX-ray2.14A/B1-318[»]
4LZOX-ray3.31A/B1-318[»]
4M0PX-ray2.11A/B1-318[»]
4M0UX-ray2.74A/B1-318[»]
ProteinModelPortaliP60891
SMRiP60891
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111615, 58 interactors
DIPiDIP-61999N
IntActiP60891, 19 interactors
MINTiP60891
STRINGi9606.ENSP00000361512

Chemistry databases

BindingDBiP60891
ChEMBLiCHEMBL2638

PTM databases

iPTMnetiP60891
PhosphoSitePlusiP60891
SwissPalmiP60891

Polymorphism and mutation databases

BioMutaiPRPS1
DMDMi46397477

2D gel databases

UCD-2DPAGEiP60891

Proteomic databases

EPDiP60891
MaxQBiP60891
PaxDbiP60891
PeptideAtlasiP60891
PRIDEiP60891
ProteomicsDBi57233

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5631
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372435; ENSP00000361512; ENSG00000147224 [P60891-1]
GeneIDi5631
KEGGihsa:5631
UCSCiuc004ene.5 human [P60891-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5631
DisGeNETi5631
EuPathDBiHostDB:ENSG00000147224.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PRPS1
GeneReviewsiPRPS1
HGNCiHGNC:9462 PRPS1
MalaCardsiPRPS1
MIMi300661 phenotype
301835 phenotype
304500 phenotype
311070 phenotype
311850 gene
neXtProtiNX_P60891
OpenTargetsiENSG00000147224
Orphaneti1187 Lethal ataxia with deafness and optic atrophy
411536 Mild phosphoribosylpyrophosphate synthetase superactivity
411543 Severe phosphoribosylpyrophosphate synthetase superactivity
99014 X-linked Charcot-Marie-Tooth disease type 5
423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
90625 X-linked non-syndromic sensorineural deafness type DFN
PharmGKBiPA33817

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1448 Eukaryota
COG0462 LUCA
GeneTreeiENSGT00940000153150
HOGENOMiHOG000210451
HOVERGENiHBG001520
InParanoidiP60891
KOiK00948
OMAiFGWARQD
OrthoDBiEOG091G0ZG8
PhylomeDBiP60891
TreeFamiTF106366

Enzyme and pathway databases

UniPathwayi
UPA00087;UER00172

BioCyciMetaCyc:HS07410-MONOMER
BRENDAi2.7.6.1 2681
ReactomeiR-HSA-73843 5-Phosphoribose 1-diphosphate biosynthesis

Miscellaneous databases

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

More...
ChiTaRSi
PRPS1 human
EvolutionaryTraceiP60891

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

More...
GenomeRNAii
5631

Protein Ontology

More...
PROi
PR:P60891

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147224 Expressed in 232 organ(s), highest expression level in left coronary artery
CleanExiHS_PRPS1
ExpressionAtlasiP60891 baseline and differential
GenevisibleiP60891 HS

Family and domain databases

CDDicd06223 PRTases_typeI, 1 hit
HAMAPiMF_00583_B RibP_PPkinase_B, 1 hit
InterProiView protein in InterPro
IPR000842 PRib_PP_synth_CS
IPR029099 Pribosyltran_N
IPR000836 PRibTrfase_dom
IPR029057 PRTase-like
IPR005946 Rib-P_diPkinase
IPR037515 Rib-P_diPkinase_bac
PANTHERiPTHR10210 PTHR10210, 1 hit
PfamiView protein in Pfam
PF14572 Pribosyl_synth, 1 hit
PF13793 Pribosyltran_N, 1 hit
SUPFAMiSSF53271 SSF53271, 1 hit
TIGRFAMsiTIGR01251 ribP_PPkin, 1 hit
PROSITEiView protein in PROSITE
PS00114 PRPP_SYNTHASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiPRPS1_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: P60891
Secondary accession number(s): B1ALA8
, B2R6T7, B4DNL6, D3DUX6, P09329
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: January 23, 2007
Last modified: December 5, 2018
This is version 164 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

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