PIP5K1C

Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma

Rendering based on PDB 3H1Z.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PIP5K1C ; LCCS3; PIP5K-GAMMA; PIP5K1-gamma; PIP5Kgamma
External IDs OMIM: 606102 MGI: 1298224 HomoloGene: 69032 GeneCards: PIP5K1C Gene
EC number 2.7.1.68
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 23396 18717
Ensembl ENSG00000186111 ENSMUSG00000034902
UniProt O60331 O70161
RefSeq (mRNA) NM_001195733 NM_001146687
RefSeq (protein) NP_001182662 NP_001140159
Location (UCSC) Chr 19:
3.63 – 3.7 Mb
Chr 10:
81.29 – 81.32 Mb
PubMed search

Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma is an enzyme that in humans is encoded by the PIP5K1C gene.[1][2]

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.[2]

Model organisms

Model organisms have been used in the study of PIP5K1C function. A conditional knockout mouse line, called Pip5k1ctm1a(KOMP)Wtsi[7][8] 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.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty three tests were carried out on mutant mice and two significant abnormalities were observed.[5] 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.[5]

References

  1. 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.
  2. 1 2 "Entrez Gene: PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma".
  3. "Salmonella infection data for Pip5k1c". Wellcome Trust Sanger Institute.
  4. "Citrobacter infection data for Pip5k1c". Wellcome Trust Sanger Institute.
  5. 1 2 3 4 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.
  6. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. "International Knockout Mouse Consortium".
  8. "Mouse Genome Informatics".
  9. 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.
  10. Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  11. 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.
  12. 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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