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

    Gene ID: 5631, updated on 4-Feb-2024

    Summary

    Official Symbol
    PRPS1provided by HGNC
    Official Full Name
    phosphoribosyl pyrophosphate synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:9462
    See related
    Ensembl:ENSG00000147224 MIM:311850; AllianceGenome:HGNC:9462
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 27.0), brain (RPKM 23.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRPS1 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (107628510..107651026)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (106065274..106087791)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106871740..106894256)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106686037-106686538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106686539-106687038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106691754-106692254 Neighboring gene keratin 18 pseudogene 49 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106694089-106695003 Neighboring gene FERM and PDZ domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106727305-106727863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106749412-106749912 Neighboring gene FRMPD3 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106804525-106805322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106806121-106806916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106806917-106807714 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:106842109-106842610 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:106842611-106843110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106843233-106843778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106843779-106844324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20928 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:106876457-106876559 Neighboring gene Sharpr-MPRA regulatory region 15331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20931 Neighboring gene NANOG hESC enhancer GRCh37_chrX:106943730-106944231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:106968611-106969112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106975096-106975705 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:106980023-106980600 Neighboring gene TSC22 domain family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106992672-106993524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:106993525-106994376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107017786-107018363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107018364-107018940 Neighboring gene Sharpr-MPRA regulatory region 6089 Neighboring gene nuclear cap binding protein subunit 2 like

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0967

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribose phosphate diphosphokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ribose phosphate diphosphokinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ribose phosphate diphosphokinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of ribose phosphate diphosphokinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001204402.2NP_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, D00860, DC411129
      UniProtKB/TrEMBL
      B7ZB02
      Conserved Domains (1) summary
      PRK01259
      Location:1109
      PRK01259; ribose-phosphate diphosphokinase
    2. NM_002764.4NP_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
      B1ALA8, B2R6T7, B4DNL6, D3DUX6, P09329, P60891
      UniProtKB/TrEMBL
      Q53FW2
      Related
      ENSP00000361512.4, ENST00000372435.10
      Conserved Domains (1) summary
      COG0462
      Location:1313
      PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      107628510..107651026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      106065274..106087791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)