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ZIRC
ZFIN ID: ZDB-GENE-030131-4011
Gene Name: phosphoribosyl pyrophosphate synthetase 1B
Gene Symbol: prps1b
Sequence Ontology ID : SO:0000704

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Previous Names: fc64g03, im:6909503, wu:fc64g03, zgc:153331

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(Including Attributions)
Location: Chr: 14 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Predicted to have ribose phosphate diphosphokinase activity; predicted to be involved in 5-phosphoribose 1-diphosphate biosynthetic process and purine nucleotide biosynthetic process; predicted to  ...
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hg19 Small Deletion Exon 2 Frameshift, Premature Stop ZINC_FINGER_NUCLEASE
hg20 Small Deletion Exon 2 Frameshift, Premature Stop ZINC_FINGER_NUCLEASE
hg21 Indel Exon 2 Frameshift, Premature Stop ZINC_FINGER_NUCLEASE
sa42360 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Targeting reagents:
    PHENOTYPE
    Data: Fig. 2 from Pei et al., 2016
    Observed in:
    DISEASE ASSOCIATED WITH prps1b HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    Arts syndrome Arts syndrome 301835
    Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070
    X-linked nonsyndromic deafness Deafness, X-linked 1 304500
    Phosphoribosylpyrophosphate synthetase superactivity 300661
    Gout, PRPS-related 300661
    DISEASE ASSOCIATED WITH prps1b VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process cellular biosynthetic process (more)
    Cellular Component cytoplasm (more)
    Molecular Function magnesium ion binding (more)
    GO Terms (all 11)
    TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA prps1b-201 (1) 1537
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM prps1b No data available
    MARKER RELATIONSHIPS
    prps1bContained in: [BAC] DKEY-152P16 (1) (order this)
    prps1bEncodes: [EST] IMAGE:6909503 (1) (order this), IMAGE:7160487 (1) (order this)
    [cDNA] MGC:153331 (1) (order this), MGC:174219 (1) (order this), MGC:191518 (1) (order this)
    prps1bHas Artifact: [EST] fc64g03
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001076568 (1) 1554bp
    Genomic GenBank:BX957302 (1) 225269bp Blast at MegaBLAST
    Polypeptide UniProtKB:Q08CA5 (1) 318aa
    Sequence Clusters UniGene:73699 (1)
    Sequence Information (all 21)
    ORTHOLOGY for prps1b (Chr: 14)
    CITATIONS (24)