INPP1

INPP1
Identifiers
Aliases	INPP1 , inositol polyphosphate-1-phosphatase
External IDs	OMIM: 147263 MGI: 104848 HomoloGene: 1655 GeneCards: INPP1
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q32.2 Start 190,343,570 bp [1] End 190,371,665 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 C1.1|1 26.99 cM Start 52,824,586 bp [2] End 52,856,847 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm corpus callosum middle frontal gyrus cervix epithelium inferior ganglion of vagus nerve duodenum right lung pancreatic epithelial cell pons jejunal mucosa Top expressed in cerebellar cortex thymus spermatid seminal vesicula superior frontal gyrus seminiferous tubule cerebellar vermis pineal gland duodenum neural tube More reference expression data BioGPS More reference expression data
Gene ontology Molecular function inositol-1,4-bisphosphate 1-phosphatase activity inositol-1,3,4-trisphosphate 1-phosphatase activity hydrolase activity metal ion binding protein binding Cellular component cytosol Biological process phosphate-containing compound metabolic process phosphatidylinositol phosphate biosynthetic process inositol phosphate metabolic process signal transduction dephosphorylation inositol phosphate dephosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 1: 52.82 – 52.86 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

Inpp1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal [7]
Citrobacter infection	Abnormal [8]
All tests and analysis from [9] [10]

Model organisms have been used in the study of INPP1 function. A conditional knockout mouse line, called Inpp1^{tm1a(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. Bibcode:1993PNAS...90.5833Y. 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

• 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. S2CID   29563486.
• 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. S2CID   24222446.
• 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. Bibcode:2002PNAS...9916899M. 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.