• Gene id: 23396

Gene Summary

• Gene Symbol: PIP5K1C   Gene   UCSC   Ensembl
• Aliases: LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma
• Gene name: phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
• Alternate names: phosphatidylinositol 4-phosphate 5-kinase type-1 gamma, diphosphoinositide kinase, phosphatidylinositol-4-phosphate 5-kinase, type I, gamma, ptdIns(4)P-5-kinase 1 gamma, type I PIP kinase,
• Gene location: 19p13.3 (3700485: 3630180)     Exons: 24     NC_000019.10
• Gene summary(Entrez): This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found
• OMIM: 606248

Protein Summary

• Protein general information: O60331  
  • Name: Phosphatidylinositol 4 phosphate 5 kinase type 1 gamma (PIP5K1 gamma) (PtdIns(4)P 5 kinase 1 gamma) (EC 2.7.1.68) (Phosphatidylinositol 4 phosphate 5 kinase type I gamma) (PIP5KIgamma)
  • Length: 668  
  • Mass: 73260
  • Tissue specificity: Isoform 1 is strongly expressed in brain and also detected in heart and lung. Isoform 2 is strongly expressed in pancreas and liver and in lesser quantities in brain, heart, lung and kidney. Isoform 3 is detected in large amounts in he
• Sequence:

  MELEVPDEAESAEAGAVPSEAAWAAESGAAAGLAQKKAAPTEVLSMTAQPGPGHGKKLGHRGVDASGETTYKKTT
  SSTLKGAIQLGIGYTVGHLSSKPERDVLMQDFYVVESIFFPSEGSNLTPAHHFQDFRFKTYAPVAFRYFRELFGI
  RPDDYLYSLCNEPLIELSNPGASGSLFYVTSDDEFIIKTVMHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYC
  VQSGGKNIRVVVMNNILPRVVKMHLKFDLKGSTYKRRASKKEKEKSFPTYKDLDFMQDMPEGLLLDADTFSALVK
  TLQRDCLVLESFKIMDYSLLLGVHNIDQHERERQAQGAQSTSDEKRPVGQKALYSTAMESIQGGAARGEAIESDD
  TMGGIPAVNGRGERLLLHIGIIDILQSYRFIKKLEHTWKALVHDGDTVSVHRPSFYAERFFKFMSNTVFRKNSSL
  KSSPSKKGRGGALLAVKPLGPTAAFSASQIPSEREEAQYDLRGARSYPTLEDEGRPDLLPCTPPSFEEATTASIA
  TTLSSTSLSIPERSPSETSEQPRYRRRTQSSGQDGRPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEAS
  PAGASAAVEVETASQASDEEGAPASQASDEEDAPATDIYFPTDERSWVYSPLHYSAQAPPASDGESDT

• Structural information:
  • Protein Domains: (75..44-)
    (/note="PIPK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00781"-)
  • Interpro: IPR023610  IPR027483  IPR002498  IPR027484  
  • Prosite: PS51455
  • PDB: 2G35 3H1Z 3H85
  • PDBsum: 2G35 3H1Z 3H85
  • DIP: 39809
  • STRING: ENSP00000466363
• Other Databases: GeneCards:  PIP5K1C  Malacards:  PIP5K1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010008	endosome membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0016307	phosphatidylinositol phosphate kinase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0006909	phagocytosis	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016308	1-phosphatidylinositol-4-phosphate 5-kinase activity	TAS	molecular function
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005912	adherens junction	IEA	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0001931	uropod	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0034333	adherens junction assembly	TAS	biological process
GO:0030593	neutrophil chemotaxis	TAS	biological process
GO:0030036	actin cytoskeleton organization	TAS	biological process
GO:0016079	synaptic vesicle exocytosis	TAS	biological process
GO:0001931	uropod	TAS	cellular component
GO:0005925	focal adhesion	TAS	cellular component
GO:0098609	cell-cell adhesion	TAS	biological process
GO:0006909	phagocytosis	TAS	biological process
GO:0072583	clathrin-dependent endocytosis	TAS	biological process
GO:0048488	synaptic vesicle endocytosis	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04144	Endocytosis
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa04072	Phospholipase D signaling pathway
hsa05135	Yersinia infection
hsa04070	Phosphatidylinositol signaling system
hsa05231	Choline metabolism in cancer
hsa04666	Fc gamma R-mediated phagocytosis
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Lethal congenital contractural syndrome	KEGG:H00865
Lethal congenital contractural syndrome	KEGG:H00865
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq