INPP1

INPP1
Identifiers
AliasesINPP1, inositol polyphosphate-1-phosphatase
External IDsMGI: 104848 HomoloGene: 1655 GeneCards: INPP1
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q32.2Start190,343,470 bp[1]
End190,371,665 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

3628

16329

Ensembl

ENSG00000151689

ENSMUSG00000026102

UniProt

P49441

P49442

RefSeq (mRNA)

NM_001128928
NM_002194

NM_008384

RefSeq (protein)

NP_001122400
NP_002185

NP_032410

Location (UCSC)Chr 2: 190.34 – 190.37 MbChr 1: 52.79 – 52.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Inositol polyphosphate 1-phosphatase is an enzyme that, in humans, is encoded by the INPP1 gene.[5][6] 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.[6]

Model organisms

Model organisms have been used in the study of INPP1 function. A conditional knockout mouse line, called Inpp1tm1a(KOMP)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.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty four tests were carried out on mutant mice, and one significant abnormality was observed: a decreased susceptibility to bacterial infection.[9]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000151689 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026102 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. 1 2 "Entrez Gene: INPP1 inositol polyphosphate-1-phosphatase". Retrieved 2012-07-31.
  7. ↑ "Salmonella infection data for Inpp1". Wellcome Trust Sanger Institute.
  8. ↑ "Citrobacter infection data for Inpp1". Wellcome Trust Sanger Institute. Retrieved 2012-07-31.
  9. 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. Wiley. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  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: 262–263. doi:10.1038/474262a. PMID 21677718.
  15. ↑ 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.
  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

  • Majerus PW, Ross TS, Cunningham TW, et al. (1990). "Recent insights in phosphatidylinositol signaling". Cell. 63 (3): 459–65. doi:10.1016/0092-8674(90)90442-H. PMID 2225061.
  • Zhang X, Majerus PW (1998). "Phosphatidylinositol signalling reactions". Semin. Cell Dev. Biol. 9 (2): 153–60. doi:10.1006/scdb.1997.0220. PMID 9599410.
  • Steen VM, Løvlie R, Osher Y, et al. (1998). "The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic-depressive illness". Pharmacogenetics. 8 (3): 259–68. doi:10.1097/00008571-199806000-00008. PMID 9682271.
  • Løvlie R, Gulbrandsen AK, Molven A, Steen VM (2000). "Genomic structure and sequence analysis of a human inositol polyphosphate 1-phosphatase gene (INPP1)". Pharmacogenetics. 9 (4): 517–28. PMID 10780272.
  • Patel S, Yenush L, Rodríguez PL, et al. (2002). "Crystal structure of an enzyme displaying both inositol-polyphosphate-1-phosphatase and 3'-phosphoadenosine-5'-phosphate phosphatase activities: a novel target of lithium therapy". J. Mol. Biol. 315 (4): 677–85. doi:10.1006/jmbi.2001.5271. PMID 11812139.
  • Piccardi MP, Ardau R, Chillotti C, et al. (2002). "Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes". Psychiatr. Genet. 12 (1): 23–7. doi:10.1097/00041444-200203000-00003. PMID 11901356.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.


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