Biology:PIP5K1C

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma is an enzyme that in humans is encoded by the PIP5K1C gene.

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.

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
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of PIP5K1C function. A conditional knockout mouse line, called Pip5k1c^{tm1a(KOMP)Wtsi} 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.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty three tests were carried out on mutant mice and two significant abnormalities were observed. 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.

Further reading

• "Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1.". Immunity 19 (5): 637–40. 2003. 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. 
• "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. 1998. doi:10.1093/dnares/5.1.31. PMID 9628581. 
• "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. 2000. doi:10.1074/jbc.M000955200. PMID 10827173. 
• "PIP kinase Igamma is the major PI(4,5)P(2) synthesizing enzyme at the synapse.". Neuron 32 (1): 79–88. 2001. doi:10.1016/S0896-6273(01)00456-1. PMID 11604140. 
• "Recruitment and regulation of phosphatidylinositol phosphate kinase type 1 gamma by the FERM domain of talin.". Nature 420 (6911): 85–9. 2002. doi:10.1038/nature01147. PMID 12422219. Bibcode: 2002Natur.420...85D. 
• "Type I gamma phosphatidylinositol phosphate kinase targets and regulates focal adhesions.". Nature 420 (6911): 89–93. 2002. doi:10.1038/nature01082. PMID 12422220. Bibcode: 2002Natur.420...89L. 
• "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "Membrane ruffling requires coordination between type Ialpha phosphatidylinositol phosphate kinase and Rac signaling.". J. Biol. Chem. 278 (25): 23036–45. 2003. doi:10.1074/jbc.M211397200. PMID 12682053. 
• "ARF6 stimulates clathrin/AP-2 recruitment to synaptic membranes by activating phosphatidylinositol phosphate kinase type Igamma.". J. Cell Biol. 162 (1): 113–24. 2003. doi:10.1083/jcb.200301006. PMID 12847086. 
• "Identification and characterization of a phosphoinositide phosphate kinase homolog.". J. Biol. Chem. 279 (12): 11672–9. 2004. doi:10.1074/jbc.M309721200. PMID 14701839. 
• "The DNA sequence and biology of human chromosome 19.". Nature 428 (6982): 529–35. 2004. doi:10.1038/nature02399. PMID 15057824. Bibcode: 2004Natur.428..529G. 
• "Critical role of PIP5KI{gamma}87 in InsP3-mediated Ca(2+) signaling.". J. Cell Biol. 167 (6): 1005–10. 2005. doi:10.1083/jcb.200408008. PMID 15611330. 
• "Type Igamma661 phosphatidylinositol phosphate kinase directly interacts with AP2 and regulates endocytosis.". J. Biol. Chem. 281 (29): 20632–42. 2006. doi:10.1074/jbc.M601465200. PMID 16707488. 
• "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. 2006. doi:10.1073/pnas.0510306103. PMID 16880396. Bibcode: 2006PNAS..10311934K. 
• "Regulation of ezrin localization by Rac1 and PIPK in human epithelial cells.". Exp. Cell Res. 313 (4): 824–33. 2007. doi:10.1016/j.yexcr.2006.12.002. PMID 17229424. 
• "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. 2007. doi:10.1083/jcb.200606023. PMID 17261850.