Display Settings:

Format

Send to:

Choose Destination

PRPS1 phosphoribosyl pyrophosphate synthetase 1 [ Homo sapiens (human) ]

Gene ID: 5631, updated on 13-Jan-2015
Official Symbol
PRPS1provided by HGNC
Official Full Name
phosphoribosyl pyrophosphate synthetase 1provided by HGNC
Primary source
HGNC:HGNC:9462
Locus tag
RP11-540N4.1
See related
Ensembl:ENSG00000147224; HPRD:02413; MIM:311850; Vega:OTTHUMG00000022167
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP
Summary
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Orthologs
See PRPS1 in MapViewer
Location:
Xq22.3
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (107628424..107651026)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106871654..106894256)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene keratin 18 pseudogene 49 Neighboring gene FERM and PDZ domain containing 3 Neighboring gene TSC22 domain family, member 3 Neighboring gene nuclear cap binding protein subunit 2-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 5-Phosphoribose 1-diphosphate biosynthesis, organism-specific biosystem (from REACTOME)
    5-Phosphoribose 1-diphosphate biosynthesis, organism-specific biosystem5-Phospho-alpha-D-ribose 1-diphosphate (PRPP) is a key intermediate in both the de novo and salvage pathways of purine and pyrimidine synthesis. PRPP and the enzymatic activity responsible for its s...
  • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
    Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Biosynthesis of amino acids, conserved biosystem (from KEGG)
    Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Carbon metabolism, organism-specific biosystem (from KEGG)
    Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Carbon metabolism, conserved biosystem (from KEGG)
    Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • Nucleotide Metabolism, organism-specific biosystem (from WikiPathways)
    Nucleotide Metabolism, organism-specific biosystemThe pathway outlined above focuses on purine metabolism and in particular that of guanine metabolism.
  • PRPP biosynthesis, ribose 5P => PRPP, organism-specific biosystem (from KEGG)
    PRPP biosynthesis, ribose 5P => PRPP, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • PRPP biosynthesis, ribose 5P => PRPP, conserved biosystem (from KEGG)
    PRPP biosynthesis, ribose 5P => PRPP, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
  • Pentose phosphate pathway, organism-specific biosystem (from KEGG)
    Pentose phosphate pathway, organism-specific biosystemThe pentose phosphate pathway is a process of glucose turnover that produces NADPH as reducing equivalents and pentoses as essential parts of nucleotides. There are two different phases in the pathwa...
  • Pentose phosphate pathway, conserved biosystem (from KEGG)
    Pentose phosphate pathway, conserved biosystemThe pentose phosphate pathway is a process of glucose turnover that produces NADPH as reducing equivalents and pentoses as essential parts of nucleotides. There are two different phases in the pathwa...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0967

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
kinase activity IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
ribose phosphate diphosphokinase activity EXP
Inferred from Experiment
more info
 
ribose phosphate diphosphokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
ribose phosphate diphosphokinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
5-phosphoribose 1-diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
5-phosphoribose 1-diphosphate biosynthetic process TAS
Traceable Author Statement
more info
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
hypoxanthine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
pathogenesis TAS
Traceable Author Statement
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
purine nucleobase metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
purine nucleotide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
pyrimidine nucleotide biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
ribonucleoside monophosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
urate biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
ribose-phosphate pyrophosphokinase 1
Names
ribose-phosphate pyrophosphokinase 1
deafness 2, perceptive, congenital
ribose-phosphate diphosphokinase 1
phosphoribosyl pyrophosphate synthase I
deafness, X-linked 2, perceptive, congenital
dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
NP_001191331.1
NP_002755.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008407.1 

    Range
    5001..27603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_264

mRNA and Protein(s)

  1. NM_001204402.1NP_001191331.1  ribose-phosphate pyrophosphokinase 1 isoform 2

    See proteins identical to NP_001191331.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK316467, AL137787, D00860, DC411129
    Consensus CDS
    CCDS76007.1
    UniProtKB/TrEMBL
    B7ZB02
    UniProtKB/Swiss-Prot
    P60891
    Related
    ENSP00000361505, ENST00000372428
    Conserved Domains (1) summary
    cd06223
    Location:170
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
  2. NM_002764.3NP_002755.1  ribose-phosphate pyrophosphokinase 1 isoform 1

    See proteins identical to NP_002755.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL137787, BC001605
    Consensus CDS
    CCDS14529.1
    UniProtKB/Swiss-Prot
    P60891
    Related
    ENSP00000361512, OTTHUMP00000023807, ENST00000372435, OTTHUMT00000057840
    Conserved Domains (3) summary
    cd06223
    Location:147274
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain
    COG0462
    Location:1313
    PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism / Amino acid transport and metabolism]
    pfam13793
    Location:4120
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    107628424..107651026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    106782575..106805177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    96496454..96518960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)