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    prps1a phosphoribosyl pyrophosphate synthetase 1A [ Danio rerio (zebrafish) ]

    Gene ID: 140620, updated on 9-Dec-2024

    Summary

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    Official Symbol
    prps1aprovided by ZNC
    Official Full Name
    phosphoribosyl pyrophosphate synthetase 1Aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-011212-5
    See related
    Ensembl:ENSDARG00000015524 AllianceGenome:ZFIN:ZDB-GENE-011212-5
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    cb96; prps1; zgc:55299; zgc:76932; wu:fa18f03; wu:fb33h12; wu:fd26g08
    Summary
    Predicted to enable ribose phosphate diphosphokinase activity. Involved in actin filament bundle organization. Predicted to be active in cytoplasm. Is expressed in several structures, including alar plate midbrain region; caudal hematopoietic tissue; immature eye; nervous system; and yolk syncytial layer. Used to study Charcot-Marie-Tooth disease X-linked recessive 5. Human ortholog(s) of this gene implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa. Orthologous to human PRPS1 (phosphoribosyl pyrophosphate synthetase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See prps1a in Genome Data Viewer
    Location:
    chromosome: 5
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 5 NC_007116.7 (23136546..23147665)
    105 previous assembly GRCz10 (GCF_000002035.5) 5 NC_007116.6 (22632736..22643865)

    Chromosome 5 - NC_007116.7Genomic Context describing neighboring genes Neighboring gene zinc finger DHHC-type palmitoyltransferase 15a Neighboring gene uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) Neighboring gene neurite extension and migration factor a Neighboring gene T-box transcription factor 5b Neighboring gene uncharacterized LOC137495584

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. PRPS polymerization influences lens fiber organization in zebrafish. Begovich K, et al. Dev Dyn, 2020 Aug. PMID 32243675, Free PMC Article
    2. Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1. DeSmidt AA, et al. Anat Rec (Hoboken), 2020 Mar. PMID 30874365
    3. Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases. Pei W, et al. Sci Rep, 2016 Jul 18. PMID 27425195, Free PMC Article
    4. A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. Grati M, et al. Hum Mol Genet, 2015 May 1. PMID 25601850, Free PMC Article
    5. The N-glycome regulates the endothelial-to-hematopoietic transition. Kasper DM, et al. Science, 2020 Dec 4. PMID 33273096, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. mutations in PRPS1 result in phenotypic deficiencies in zebrafish similar to those in the associated human diseases.
      Title: Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111881

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ribose phosphate diphosphokinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in 5-phosphoribose 1-diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in actin filament bundle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within nucleotide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within ribonucleoside monophosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ribose-phosphate pyrophosphokinase 1a
    NP_001346823.1
    NP_998492.1
    NP_998698.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001359894.1 → NP_001346823.1  ribose-phosphate pyrophosphokinase 1a isoform 3

      Status: VALIDATED

      Source sequence(s)
      BX640539
      UniProtKB/TrEMBL
      A0A8M2BCA5, A0A8M3B9F9, Q4KME9
      Related
      ENSDARP00000008663.8, ENSDART00000003428.10
      Conserved Domains (1) summary
      COG0462
      Location:1 → 315
      PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

    2. NM_213327.2 → NP_998492.1  ribose-phosphate pyrophosphokinase 1a isoform 1

      See identical proteins and their annotated locations for NP_998492.1

      Status: VALIDATED

      Source sequence(s)
      BC066485, BX640539
      UniProtKB/TrEMBL
      A0A0R4IW25, A0A8M1PEZ5, A0A8M3AS85, Q6NYR9
      Related
      ENSDARP00000140447.2, ENSDART00000171039.2
      Conserved Domains (3) summary
      COG0462
      Location:1 → 287
      PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
      pfam13793
      Location:4 → 120
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
      cl00309
      Location:161 → 287
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    3. NM_213533.3 → NP_998698.1  ribose-phosphate pyrophosphokinase 1a isoform 2

      See identical proteins and their annotated locations for NP_998698.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region and has a distinct 3' terminal exon compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AI957867, BC066485, BX640539, CT644358, CT708525, EB884951
      UniProtKB/TrEMBL
      A0A8M1PJS0, A0A8M3AS85, Q7ZW39
      Related
      ENSDARP00000144425.1, ENSDART00000178821.2
      Conserved Domains (3) summary
      COG0462
      Location:1 → 313
      PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
      pfam13793
      Location:4 → 120
      Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
      cl00309
      Location:161 → 313
      PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007116.7 Reference GRCz11 Primary Assembly

      Range
      23136546..23147665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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