INPP1

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]

INPP1
Identifiers
AliasesINPP1, inositol polyphosphate-1-phosphatase
External IDsOMIM: 147263 MGI: 104848 HomoloGene: 1655 GeneCards: INPP1
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q32.2Start190,343,570 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

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. GRCh38: Ensembl release 89: ENSG00000151689 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026102 - 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. 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. "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. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. 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): 262–263. 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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