Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

2.7.1.68

Official Name

1-phosphatidylinositol-4-phosphate 5-kinase

Name from literature

phosphatidylinositol phosphate kinase

Pathway from literature

PA biosynthesis

Pathway from KEGG

Cellular Processes; Cell Motility; Regulation of actin cytoskeleton; map04810

Environmental Information Processing; Signal Transduction; Phosphatidylinositol signaling system; map04070

Carbohydrate Metabolism; Inositol phosphate metabolism; map00562

Organisms

Human (9606)

Genome localization

1q22-q24[8394 ], 19p13.3[23396 ], 2q33.3[200576 ], 10p12.2[5305 ], 12q13.3[79837 ], 17q12[8396 ], 9q13[8395 ],

Comments

This enzyme can also phosphorylate PtdIns3P in the 4-position, and PtdIns, PtdIns3P and PtdIns(3,4)P2 in the 5-position in vitro, but to a lesser extent. The last of these reactions occurs in vivo and is physiologically relevant. Three different isoforms are known.

Rate-limiting Description

"In liver, hepatomas and human carcinomas PIP kinase is the rate limiting enzyme and PLC activity is present in great excess." (9381980)

"Phosphatidylinositol 4-phosphate 5-kinase (PIP5K) catalyzes the rate-limiting step in the production of phosphatidylinositol 4,5-bisphosphate (PIP(2)), a signaling phospholipid that contributes to actin dynamics." (15277528)

Regulatory Information

Regulatory type

Detail

transcriptional level;

"Identification and functional analysis of human transcriptional promoters." (12566409)

phosphorylation;

"Here, we show that phosphorylation of serine 650 (S650) within the talin-binding sequence of human PIPKI gamma blocks this interaction." (15738269#15464023)

phosphorylation;

O14986

phosphorylation;

Q99755

phosphorylation;

Q9Y2I7

phosphorylation;

O60331:from_uniprot:649_Phosphotyrosine; by CSK

phosphorylation;

Q9Y2I7:from_uniprot:1155_Phosphotyrosine

phosphorylation;

Q9Y2I7:from_uniprot:1772_Phosphotyrosine

phosphorylation;

Q9Y2I7:from_uniprot:307_Phosphoserine

phosphorylation;

Q9Y2I7:from_uniprot:46_Phosphotyrosine

Gene ontology

Gene ontology

GO:0008270 (F) zinc ion binding [Q9Y2I7 ];
GO:0007242 (P) intracellular signaling cascade [Q9Y2I7 ];
GO:0042147 (P) retrograde transport, endosome to Golgi [Q9Y2I7 ];
GO:0016020 (C) membrane [O14986, Q5T9C9 ];
GO:0044267 (P) cellular protein metabolic process [Q9Y2I7 ];
GO:0005737 (C) cytoplasm [Q5T9C9 ];
GO:0016308 (F) 1-phosphatidylinositol-4-phosphate 5-kinase... [O60331, P78517, Q99755, Q9Y2I7, O14986, Q5T9C9 ];
GO:0045184 (P) establishment of protein localization [Q9Y2I7 ];
GO:0005794 (C) Golgi apparatus [Q99755 ];
GO:0005515 (F) protein binding [Q9Y2I7, O14986 ];
GO:0016310 (P) phosphorylation [Q99755, O14986 ];
GO:0045121 (C) membrane raft [Q9Y2I7 ];
GO:0012505 (C) endomembrane system [Q99755, O14986 ];
GO:0005886 (C) plasma membrane [O60331, Q99755 ];
GO:0007165 (P) signal transduction [Q99755 ];
GO:0031901 (C) early endosome membrane [Q9Y2I7 ];
GO:0005524 (F) ATP binding [Q9Y2I7, Q5T9C9 ];
GO:0046488 (P) phosphatidylinositol metabolic process [O60331, P78517, Q99755, Q9Y2I7, O14986, Q5T9C9 ];

Tissue expression

Tissue From HPRD

Nervous system [05834 ];
Hippocampus [17852 ];
Substantia nigra [17852 ];
Corpus callosum [17852 ];
Spinal cord [17852 ];
Fetus [17852, 04470 ];
Caudate nucleus [17852 ];
Testis [17852 ];
Skeletal muscle [11931, 17852, 04470, 04121 ];
Liver [11931, 17852, 05834, 04470, 04463 ];
Lung fibroblast [04463 ];
Muscle [04463 ];
Brain [11931, 17852, 05834, 04470, 04121, 04463 ];
Spleen [05834 ];
Platelet [17852, 04470 ];
Kidney [11931, 17852, 05834, 04470, 04121, 04463 ];
Thalamus [17852 ];
Lung [11931, 17852, 05834, 04470, 04121, 04463 ];
Heart [11931, 17852, 04470, 04121, 04463 ];
Ovary [17852 ];
Pancreas [11931, 17852, 04470, 04121, 04463 ];
Amygdala [17852 ];
Cerebellum [17852 ];
Placenta [11931, 04470, 04121, 04463 ];
Subthalamic nucleus [17852 ];

Tissue specificity

Detected in heart, pancreas, brain, kidney, skeletal muscle and lung [O14986 ];

Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels in brain, lung and liver [Q99755 ];

Subcellular localization

Localization

endosome [Q9Y2I7 ];

vesicle [Q5T9C9 ];

cell membrane [O60331 ];

golgi apparatus [Q99755 ];

membrane [Q99755, Q9Y2I7, O14986, Q5T9C9 ];

cytoplasm [O60331, Q5T9C9 ];

Disease relevance

Disease

Defects in PIP5K3 are the cause of corneal fleck dystrophy (CFD) [MIM:121850]. CFD is an autosomal dominant disorder of the cornea characterized by numerous small white flecks scattered in all levels of the stroma. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision [Q9Y2I7 ];

Defects in PIP5K1C are the cause of lethal congenital contractural syndrome type 3 (LCCS3) [MIM:611369];
also known as multiple contractural syndrome Israeli Bedouin type B. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, the Pena-Shokeir phenotype, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS3 patients present at birth with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. LCCS3 can be distinguished from the original LCCS by the absence of hydrops, fractures, and multiple pterygia [O60331 ];

Links

SwissProt

O14986; O60331; P78517; Q5T9C9; Q99755; Q9Y2I7

Entrez Gene

200576; 23396; 5305; 79837; 8394; 8395; 8396

HPRD

05834; 04463; 11931; 15138; 04470; 17852; 04121



  Copyright 2009, Center for Bioinformatics 
  Last Modified: 2009-03-24  
  Design by Zhao Min