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]
End	190,371,665 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	52,856,847 bp[2]
RNA expression pattern
	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
	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
	3628
	16329
	ENSG00000151689
	ENSMUSG00000026102
	P49441
	P49442
	NM_001128928; NM_002194
	NM_008384
	NP_001122400; NP_002185
	NP_032410
	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

GRCh38: Ensembl release 89: ENSG00000151689 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000026102 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: INPP1 inositol polyphosphate-1-phosphatase". Retrieved 2012-07-31.
"Salmonella infection data for Inpp1". Wellcome Trust Sanger Institute.
"Citrobacter infection data for Inpp1". Wellcome Trust Sanger Institute. Retrieved 2012-07-31.
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.
Mouse Resources Portal, Wellcome Trust Sanger Institute.
"International Knockout Mouse Consortium".
"Mouse Genome Informatics".
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.
Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.
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.
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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000151689 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid8390685-5] 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.

[entrez-6] "Entrez Gene: INPP1 inositol polyphosphate-1-phosphatase". Retrieved 2012-07-31.

[''Salmonella''_infection-7] "Salmonella infection data for Inpp1". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-8] "Citrobacter infection data for Inpp1". Wellcome Trust Sanger Institute. Retrieved 2012-07-31.

[mgp_reference-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.

[allele_ref-11] "International Knockout Mouse Consortium".

[mgi_allele_ref-12] "Mouse Genome Informatics".

[pmid21677750-13] 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.

[mouse_library-14] Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–263. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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.

[pmid21722353-16] 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.

INPP1

Model organisms

References

Further reading