PIP5K1C

PIP5K1C
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2G35, 3H1Z, 3H85
Identifiers
Aliases	PIP5K1C , LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma, phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
External IDs	OMIM: 606102 MGI: 1298224 HomoloGene: 69032 GeneCards: PIP5K1C
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19p13.3 Start 3,630,183 bp [1] End 3,700,468 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 C1 Start 81,292,963 bp [2] End 81,319,973 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 10 cerebellar vermis middle temporal gyrus stromal cell of endometrium Region I of hippocampus proper superior frontal gyrus cingulate gyrus saphenous vein frontal pole parietal lobe Top expressed in superior frontal gyrus prefrontal cortex cerebellar cortex external carotid artery internal carotid artery yolk sac olfactory bulb motor neuron barrel cortex nucleus accumbens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding kinase activity protein binding phosphatidylinositol phosphate kinase activity ATP binding phosphatidylinositol-3,4-bisphosphate 5-kinase activity 1-phosphatidylinositol-4-phosphate 5-kinase activity 1-phosphatidylinositol-3-phosphate 4-kinase activity Cellular component cytoplasm cell projection membrane focal adhesion adherens junction plasma membrane ruffle membrane cell junction uropod phagocytic cup endomembrane system nucleus presynapse synapse nucleoplasm cytosol endosome membrane Biological process endocytosis phosphatidylinositol metabolic process adherens junction assembly phosphorylation synaptic vesicle exocytosis neutrophil chemotaxis chemotaxis clathrin-dependent endocytosis phosphatidylinositol phosphate biosynthetic process cell adhesion synaptic vesicle endocytosis phagocytosis phosphatidylinositol biosynthetic process actin cytoskeleton organization exocytosis regulation of phosphatidylinositol 3-kinase signaling membrane organization cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23396 18717 Ensembl ENSG00000186111 ENSMUSG00000034902 UniProt O60331 O70161 RefSeq (mRNA) NM_001195733 NM_001300849 NM_012398 NM_001146687 NM_001293646 NM_001293647 NM_008844 RefSeq (protein) NP_001182662 NP_001287778 NP_036530 NP_001140159 NP_001280575 NP_001280576 NP_032870 Location (UCSC) Chr 19: 3.63 – 3.7 Mb Chr 10: 81.29 – 81.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma is an enzyme that in humans is encoded by the PIP5K1C gene. ^{[5] [6]}

This gene encodes a member of the type I phosphatidylinositol-4-phosphate 5-kinase family of enzymes. A similar protein in mice is found in synapses and focal adhesion plaques, and binds the FERM domain of talin through its C-terminus. ^[6]

Model organisms

Pip5k1c knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
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
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Salmonella infection	Normal [7]
Citrobacter infection	Normal [8]
All tests and analysis from [9] [10]

Model organisms have been used in the study of PIP5K1C function. A conditional knockout mouse line, called Pip5k1c^{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 three tests were carried out on mutant mice and two significant abnormalities were observed. ^[9] Fewer than expected homozygous mutant embryos were identified during gestation, and none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and no further phenotypes were observed. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000186111 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034902 - 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. Ishihara H, Shibasaki Y, Kizuki N, Wada T, Yazaki Y, Asano T, Oka Y (May 1998). "Type I phosphatidylinositol-4-phosphate 5-kinases. Cloning of the third isoform and deletion/substitution analysis of members of this novel lipid kinase family". J Biol Chem. 273 (15): 8741–8. doi: 10.1074/jbc.273.15.8741 . PMID   9535851.
6. "Entrez Gene: PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma".
7. "Salmonella infection data for Pip5k1c". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for Pip5k1c". Wellcome Trust Sanger Institute.
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 (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID   21677718.
15. Collins FS, Rossant J, Wurst W (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

• Niiro H, Clark EA (2003). "Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1". Immunity. 19 (5): 637–40. doi: 10.1016/S1074-7613(03)00303-0 . PMID   14614850.
• Carpenter CL (2004). "Btk-dependent regulation of phosphoinositide synthesis". Biochem. Soc. Trans. 32 (Pt 2): 326–9. doi:10.1042/BST0320326. PMID   15046600.
• Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi: 10.1093/dnares/5.1.31 . PMID   9628581.
• Gotthardt M, Trommsdorff M, Nevitt MF, et al. (2000). "Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction". J. Biol. Chem. 275 (33): 25616–24. doi: 10.1074/jbc.M000955200 . PMID   10827173.
• Wenk MR, Pellegrini L, Klenchin VA, et al. (2001). "PIP kinase Igamma is the major PI(4,5)P(2) synthesizing enzyme at the synapse". Neuron. 32 (1): 79–88. doi: 10.1016/S0896-6273(01)00456-1 . PMID   11604140. S2CID   9739320.
• Di Paolo G, Pellegrini L, Letinic K, et al. (2002). "Recruitment and regulation of phosphatidylinositol phosphate kinase type 1 gamma by the FERM domain of talin". Nature. 420 (6911): 85–9. Bibcode:2002Natur.420...85D. doi:10.1038/nature01147. PMID   12422219. S2CID   1746983.
• Ling K, Doughman RL, Firestone AJ, et al. (2002). "Type I gamma phosphatidylinositol phosphate kinase targets and regulates focal adhesions". Nature. 420 (6911): 89–93. Bibcode:2002Natur.420...89L. doi:10.1038/nature01082. PMID   12422220. S2CID   4301885.
• 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.
• Doughman RL, Firestone AJ, Wojtasiak ML, et al. (2003). "Membrane ruffling requires coordination between type Ialpha phosphatidylinositol phosphate kinase and Rac signaling". J. Biol. Chem. 278 (25): 23036–45. doi: 10.1074/jbc.M211397200 . PMID   12682053.
• Krauss M, Kinuta M, Wenk MR, et al. (2003). "ARF6 stimulates clathrin/AP-2 recruitment to synaptic membranes by activating phosphatidylinositol phosphate kinase type Igamma". J. Cell Biol. 162 (1): 113–24. doi:10.1083/jcb.200301006. PMC   2172713 . PMID   12847086.
• Chang JD, Field SJ, Rameh LE, et al. (2004). "Identification and characterization of a phosphoinositide phosphate kinase homolog". J. Biol. Chem. 279 (12): 11672–9. doi: 10.1074/jbc.M309721200 . PMID   14701839.
• Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi: 10.1038/nature02399 . PMID   15057824.
• Wang YJ, Li WH, Wang J, et al. (2005). "Critical role of PIP5KI{gamma}87 in InsP3-mediated Ca(2+) signaling". J. Cell Biol. 167 (6): 1005–10. doi:10.1083/jcb.200408008. PMC   2172614 . PMID   15611330.
• Bairstow SF, Ling K, Su X, et al. (2006). "Type Igamma661 phosphatidylinositol phosphate kinase directly interacts with AP2 and regulates endocytosis". J. Biol. Chem. 281 (29): 20632–42. doi: 10.1074/jbc.M601465200 . PMID   16707488.
• Krauss M, Kukhtina V, Pechstein A, Haucke V (2006). "Stimulation of phosphatidylinositol kinase type I-mediated phosphatidylinositol (4,5)-bisphosphate synthesis by AP-2mu-cargo complexes". Proc. Natl. Acad. Sci. U.S.A. 103 (32): 11934–9. Bibcode:2006PNAS..10311934K. doi: 10.1073/pnas.0510306103 . PMC   1567676 . PMID   16880396.
• Auvinen E, Kivi N, Vaheri A (2007). "Regulation of ezrin localization by Rac1 and PIPK in human epithelial cells". Exp. Cell Res. 313 (4): 824–33. doi:10.1016/j.yexcr.2006.12.002. PMID   17229424.
• Ling K, Bairstow SF, Carbonara C, et al. (2007). "Type Igamma phosphatidylinositol phosphate kinase modulates adherens junction and E-cadherin trafficking via a direct interaction with mu 1B adaptin". J. Cell Biol. 176 (3): 343–53. doi:10.1083/jcb.200606023. PMC   2063960 . PMID   17261850.