Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 5631, updated on 30-Jun-2015
    Official Symbol
    PRPS1provided by HGNC
    Official Full Name
    phosphoribosyl pyrophosphate synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:9462
    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 Epigenomics, MapViewer
    Location:
    Xq22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 FRMPD3 antisense RNA 1 Neighboring gene FERM and PDZ domain containing 3 Neighboring gene uncharacterized LOC105373308 Neighboring gene TSC22 domain family, member 3 Neighboring gene nuclear cap binding protein subunit 2-like

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Clone Names

    • KIAA0967

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding IEA
    Inferred from Electronic Annotation
    more info
     
    AMP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GDP binding IEA
    Inferred from Electronic Annotation
    more info
     
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     
    AMP biosynthetic process IEA
    Inferred from Electronic Annotation
    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 
    organ regeneration IEA
    Inferred from Electronic Annotation
    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 
    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
     
    ribose phosphate diphosphokinase complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ribose-phosphate pyrophosphokinase 1
    Names
    dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
    deafness 2, perceptive, congenital
    deafness, X-linked 2, perceptive, congenital
    phosphoribosyl pyrophosphate synthase I
    ribose-phosphate diphosphokinase 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 RefSeqGene

      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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

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