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
GENE EXPRESSION
All Expression Data: 6 figures from 2 publications
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [IMAGE:7160487]
  1 figure (1 image) from Thisse et al., 2004 [IMAGE:6909503]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Juvenile:Days 30-44 (30d-45d, 10 mm, adult fins/pigment)
  brain, brain dorsal region, cranial nerve II, hematopoietic system posterior region (all 13) expand
Curated Microarray Expression: GEO (1)
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
Targeting reagents: CRISPR1-prps1b (1), CRISPR2-prps1b (2), CRISPR3-prps1b (2)
PHENOTYPE
Data: Fig. 2 from Pei et al., 2016
Observed in: whole organism
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
Gout, PRPS-related 300661
Phosphoribosylpyrophosphate synthetase superactivity 300661
GENE ONTOLOGY
Ontology GO Term
Biological Process cellular biosynthetic process (more)
Cellular Component cellular_component (more)
Molecular Function magnesium ion binding (more)
GO Terms (all 7)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000836 (1)
  • InterPro:IPR000842 (1)
  • InterPro:IPR005946 (1)
  • InterPro:IPR029057 (1)
  • InterPro:IPR029099 (1)
  • PROSITE:PS00114 (1)
  • Pfam:PF13793 (1)
  • Pfam:PF14572 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA prps1b-001 (1) 1537
    GENE PRODUCT DESCRIPTION
    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)
    OTHER prps1b GENE PAGES
  • Alliance (1)
  • Gene:560827 (1)
  • VEGA:OTTDARG00000027865 (1)
  • Ensembl(GRCz10):ENSDARG00000037506 (1)
  • ORTHOLOGY for prps1b (Chr: 14)
    CITATIONS (22)