INPP1

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Inositol polyphosphate-1-phosphatase
Identifiers
Symbols INPP1 ; MGC110984
External IDs OMIM147263 MGI104848 HomoloGene1655 GeneCards: INPP1 Gene
EC number 3.1.3.57
RNA expression pattern
PBB GE INPP1 202794 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3628 16329
Ensembl ENSG00000151689 ENSMUSG00000026102
UniProt P49441 P49442
RefSeq (mRNA) NM_001128928 NM_008384
RefSeq (protein) NP_001122400 NP_032410
Location (UCSC) Chr 2:
191.21 – 191.24 Mb
Chr 1:
52.79 – 52.82 Mb
PubMed search [1] [2]

Inositol polyphosphate 1-phosphatase is an enzyme that, in humans, is encoded by the INPP1 gene.[1][2] INPP1 encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate.[2]

Model organisms[edit]

Model organisms have been used in the study of INPP1 function. A conditional knockout mouse line, called Inpp1tm1a(KOMP)Wtsi[7][8] 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.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty four tests were carried out on mutant mice, and one significant abnormality was observed: a decreased susceptibility to bacterial infection.[5]

References[edit]

  1. ^ York JD, Veile RA, Donis-Keller H, Majerus PW (Jul 1993). "Cloning, heterologous expression, and chromosomal localization of human inositol polyphosphate 1-phosphatase". Proc Natl Acad Sci U S A 90 (12): 5833–7. doi:10.1073/pnas.90.12.5833. PMC 46817. PMID 8390685. 
  2. ^ a b "Entrez Gene: INPP1 inositol polyphosphate-1-phosphatase". Retrieved 2012-07-31. 
  3. ^ "Salmonella infection data for Inpp1". Wellcome Trust Sanger Institute. 
  4. ^ "Citrobacter infection data for Inpp1". Wellcome Trust Sanger Institute. Retrieved 2012-07-31. 
  5. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica (Wiley): 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  6. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. ^ "International Knockout Mouse Consortium". 
  8. ^ "Mouse Genome Informatics". 
  9. ^ 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.  edit
  10. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474: 262–263. doi:10.1038/474262a. PMID 21677718. 
  11. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell 128: 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  12. ^ 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[edit]