PRPSAP2

Last updated
PRPSAP2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PRPSAP2 , PAP41, phosphoribosyl pyrophosphate synthetase associated protein 2
External IDs OMIM: 603762 MGI: 2384838 HomoloGene: 2073 GeneCards: PRPSAP2
Orthologs
SpeciesHumanMouse
Entrez

5636

212627

Ensembl

ENSG00000141127

ENSMUSG00000020528

UniProt

O60256

Q8R574

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC) Chr 17: 18.84 – 18.93 Mb Chr 11: 61.62 – 61.65 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Phosphoribosyl pyrophosphate synthetase-associated protein 2 is a protein that in humans is encoded by the PRPSAP2 gene. [5]

Function

The enzyme phosphoribosyl pyrophosphate synthetase (PRS) catalyzes the formation of phosphoribosyl pyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. [5]

Model organisms

Model organisms have been used in the study of PRPSAP2 function. A conditional knockout mouse line, called Prpsap2tm1a(EUCOMM)Wtsi [11] [12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute. [13] [14] [15] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [9] [16] Twenty five tests were carried out and two phenotypes were reported. Homozygous mutant males displayed more rearing in an open field test, and mutants of both sex had decreased IgG1 levels. [9]

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000141127 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020528 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: phosphoribosyl pyrophosphate synthetase-associated protein 2" . Retrieved 2011-08-30.
  6. ↑ "Anxiety data for Prpsap2". Wellcome Trust Sanger Institute.
  7. ↑ "Salmonella infection data for Prpsap2". Wellcome Trust Sanger Institute.
  8. ↑ "Citrobacter infection data for Prpsap2". Wellcome Trust Sanger Institute.
  9. 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
  10. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. ↑ "International Knockout Mouse Consortium".
  12. ↑ "Mouse Genome Informatics".
  13. ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
  14. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
  15. ↑ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
  16. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

Further reading


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