Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Prps1. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of April 8, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Prps1:
  • participates in the following biological processes:
    • 5-phosphoribose 1-diphosphate biosynthetic process
    • AMP biosynthetic process
    • hypoxanthine biosynthetic process
    • nervous system development
    • nucleotide biosynthetic process
    • purine nucleobase metabolic process
    • purine nucleotide biosynthetic process
    • ribose phosphate metabolic process
    • urate biosynthetic process
  • performs the following molecular functions:
    • ADP binding
    • AMP binding
    • ATP binding
    • carbohydrate binding
    • GDP binding
    • magnesium ion binding
    • protein homodimerization activity
    • ribose phosphate diphosphokinase activity
  • is located in the following cellular components:
    • protein complex
    • ribose phosphate diphosphokinase complex

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Summary text based on GO annotations supported by structural data

• Prps1 encodes a protein or proteins that contain the following InterPro domains: Phosphoribosyl pyrophosphate synthetase, conserved site, Phosphoribosyltransferase domain, Ribose-phosphate diphosphokinase, indicating that the gene product:
  • participates in the following biological processes:
    • cellular biosynthetic process
    • nucleoside metabolic process
    • ribonucleoside monophosphate biosynthetic process

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Prps1 indicates that it:
  • participates in the following biological processes:
    • phosphorylation
  • performs the following molecular functions:
    • kinase activity
    • metal ion binding
    • nucleotide binding
    • transferase activity

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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