PIP5K1C

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PIP5K1C
Protein PIP5K1C PDB 3H1Z.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPIP5K1C, LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma, phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
External IDsMGI: 1298224 HomoloGene: 69032 GeneCards: PIP5K1C
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for PIP5K1C
Genomic location for PIP5K1C
Band19p13.3Start3,630,183 bp[1]
End3,700,479 bp[1]
RNA expression pattern
PBB GE PIP5K1C 212518 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 10: 81.29 – 81.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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[edit]

Model organisms have been used in the study of PIP5K1C function. A conditional knockout mouse line, called Pip5k1ctm1a(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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186111 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034902 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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. ^ a b "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. ^ a b c d 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.
  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.
  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[edit]