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ITPKC
ITPKC is one of 3 human genes that encode for an Inositol-trisphosphate 3-kinase. This gene that has been associated with Kawasaki disease. Kawasaki disease is an acute febrile illness that involves the inflammation of blood vessels throughout the body. The majority of cases that have been diagnosed involve children under the age of 5. In untreated cases involving children, 15 to 25 percent of these cases developed coronary artery aneurysms. The overproduction of T cells may be correlated with the immune hyperactivity in Kawasaki disease. This gene is located at chromosome 19q13.1, it codes for one of three isoenzymes. The other two enzymes being ITPKA and ITPKB. ITPKC is involved in the Ca(2+)/NFAT pathway, negatively regulating T cell activation. A mutation in this gene occurs through a single-nucleotide polymorphism. When a mutation occurs the gene does not produce a functioning enzyme, meaning it will no longer be effective in negatively regulating T cells. When there is this ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inositol-trisphosphate 3-kinase
Inositol (1,4,5) trisphosphate 3-kinase (), abbreviated here as ITP3K, is an enzyme that facilitates a phospho-group transfer from adenosine triphosphate to 1D-myo-inositol 1,4,5-trisphosphate. This enzyme belongs to the family of transferases, specifically those transferring phosphorus-containing groups (phosphotransferases) with an alcohol group as acceptor. The systematic name of this enzyme class is ATP:1D-myo-inositol-1,4,5-trisphosphate 3-phosphotransferase. ITP3K catalyzes the transfer of the gamma-phosphate from ATP to the 3-position of inositol 1,4,5-trisphosphate to form inositol 1,3,4,5-tetrakisphosphate. ITP3K is highly specific for the 1,4,5-isomer of IP3, and it exclusively phosphorylates the 3-OH position, producing Ins(1,3,4,5)P4, also known as inositol tetrakisphosphate or IP4. In biology, the enzyme ITP3K is abbreviated a number of different ways, including 1D-myo-inositol-trisphosphate 3-kinase, ITP3K, ITPK, IP3-kinase, IP3-3-kinase, Ins(1,4,5)P3 3-kinase. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kawasaki Disease
Kawasaki disease is a syndrome of unknown cause that results in a fever and mainly affects children under 5 years of age. It is a form of vasculitis, where blood vessels become inflamed throughout the body. The fever typically lasts for more than five days and is not affected by usual medications. Other common symptoms include large lymph nodes in the neck, a rash in the genital area, lips, palms, or soles of the feet, and red eyes. Within three weeks of the onset, the skin from the hands and feet may peel, after which recovery typically occurs. In some children, coronary artery aneurysms form in the heart. While the specific cause is unknown, it is thought to result from an excessive immune system response to an infection in children who are genetically predisposed. It does not spread between people. Diagnosis is usually based on a person's signs and symptoms. Other tests such as an ultrasound of the heart and blood tests may support the diagnosis. Diagnosis must take int ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ITPKA
Inositol-trisphosphate 3-kinase A is an enzyme that in humans is encoded by the ''ITPKA'' gene. Structure ITPKA is one of three inositol-trisphosphate 3-kinase (ITP3K) genes in humans. ITP3K proteins regulate inositol phosphate metabolism by phosphorylation of the second messenger inositol 1,4,5-trisphosphate to produce Ins(1,3,4,5)P4, which is sometimes abbreviated as IP4. Structurally, ITPKA belongs to the inositol polyphosphate kinase (IPK) family. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling, most notably, inositol trisphosphate, which is the enzyme's only substrate. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro. ITPKA and ITPKB are 68% identical in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ITPKB
Inositol-trisphosphate 3-kinase B is an enzyme that in humans is encoded by the ''ITPKB'' gene. Function The protein encoded by the ITPKB gene is one of 3 isoforms of Inositol-trisphosphate 3-kinase expressed in humans. ITPKB protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate, which releases calcium from intracellular store in the endoplasmic reticulum by gating the inositol trisphosphate receptor. ITPKB produces Ins(1,3,4,5)P4, which does ''not'' gate the inositol trisphosphate receptor Inositol trisphosphate receptor (InsP3R) is a membrane glycoprotein complex acting as a Ca2+ channel activated by inositol trisphosphate (InsP3). InsP3R is very diverse among organisms, and is necessary for the control of cellular and physiol .... The enzyme specifically phosphorylates the 1,4,5 isomer of IP3. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polypho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ITPR1
Inositol 1,4,5-trisphosphate receptor type 1 is a protein that in humans is encoded by the ''ITPR1'' gene. Interactions ITPR1 has been shown to interact with: * AHCYL1, * CA8, * EPB41L1 * FKBP1A, * MRVI1, * PRKG1, * RHOA, and * TRPC4. See also * Inositol triphosphate * Inositol triphosphate receptor Inositol trisphosphate receptor (InsP3R) is a membrane glycoprotein complex acting as a Ca2+ channel activated by inositol trisphosphate (InsP3). InsP3R is very diverse among organisms, and is necessary for the control of cellular and physiol ... References Further reading * * * * * * * * * * * * * * * * * * External links * GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 15 {{Ion channels, g1 Ion channels ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
