itpkc inositol-trisphosphate 3-kinase C This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate.

22 Mar 2016 multiciliated tracheal epithelial cells and sperm cells using our Itpkc knock-out Interestingly, an ITPKC functional genetic polymorphism was.

This enzyme helps add a cluster of oxygen and phosphorus atoms (a phosphate group) to a molecule called Ins (1,4,5)P3 to produce a molecule called Ins (1,3,4,5)P4. 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.

ITPKC Acronym for "Inositol trisphosphate 3-kinase C" is a protein coding gene located on chromosome 19q13.2. The ITPKC gene encodes as one of three isoenzymes (ITPKA and ITPKB) for a member of the inositol 1,4,5-trisphosphate 3-kinase family. The ITPKC gene provides instructions for making one version (isoform) of the inositol 1,4,5-trisphosphate 3-kinase (ITPK) enzyme. This enzyme helps add a cluster of oxygen and phosphorus atoms (a phosphate group) to a molecule called Ins(1,4,5)P3 to produce a molecule called Ins(1,3,4,5)P4. ITPKC is one of 3 human genes that encode for an Inositol-trisphosphate 3-kinase.This gene that has been associated with Kawasaki disease.

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2020-03-21 · Peng et al. reported significant associations of rs2290692 of the ITPKC gene at 3′ UTR with KD in the Han Chinese population . A significant association between rs2290692 and CAL formation was confirmed in the Taiwanese population. A novel SNP, rs7251246, was also reported as a potential marker of KD in Taiwanese patients .

Results: The GC and CC genotypes of ITPKC gene SNP rs28493229 were overrepresented in KD patients (GG:GC:CC was 236:43:1, C allele frequency: 8.04%) than those in the controls (GG:GC:CC was … 2019-12-07 ITPKC Antibodies Inositol 1, 4, 5-trisphosphate 3-kinase (ITPK) catalyzes the phosphorylation of Ins(1, 4, 5)P3 to Ins(1, 3, 4, 5)P4, both of which are modulators of calcium homeostasis. ITPK isoforms include ITPKA, ITPKB, and ITPKC, all of which contain a conserved catalytic unit in their C termini, but have unique N-terminal sequences and tissue distributions. This gene plays a role in both second messenger metabolism and calcium homeostasis.

ITPKC: Gene description i. Inositol-trisphosphate 3-kinase C: Protein class i. Disease related genes Enzymes Potential drug targets: Predicted location i Intracellular: Number of transcripts i. 1: HUMAN PROTEIN ATLAS INFORMATION i. RNA tissue

Gene Ontology (GO) annotations related to this gene include magnesium ion binding and inositol tetrakisphosphate 1-kinase activity. UniProtKB/Swiss-Prot Summary for ITPK1 Gene Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3. Gene information about ENSG00000086544 / ITPKC - inositol-trisphosphate 3-kinase C We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. The gene view histogram is a graphical view of mutations across ITPKC. These mutations are displayed at the amino acid level across the full length of the gene by default.

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the itpkc inositol-trisphosphate 3-kinase C This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate.
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Polymorphisms and Calcium Nephrolithiasis. Wei-Chih Kan,1,2 Yii-Her Chou,3 Siou-Jin Chiu 4 May 2018 But reduced ITPKC function in humans may hyperactivate T cells, B cells, and Several subsequent studies confirmed the ITPKClof genetic 22 Mar 2016 multiciliated tracheal epithelial cells and sperm cells using our Itpkc knock-out Interestingly, an ITPKC functional genetic polymorphism was.

Three tagging 3 Aug 2012 Although several genes have been proposed as causes of KD, 1,4,5- trisphosphate 3-kinase C (ITPKC) gene, which is significantly. 16 May 2020 Genetics: The ITPKC gene may play a role in Kawasaki disease, according to the National Institutes of Health (NIH). · Age: Children under the age 30 Nov 2018 As such, ITPKC, an upstream regulator of SOC entry, is a potential candidate gene for osteoclastogenesis as well.
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320404 Ensembl ENSG00000143772 ENSMUSG00000038855 UniProt P27987 B2RXC2 RefSeq (mRNA) NM_002221 NM_001388404 NM_001081175 RefSeq (protein) NP_002212 NP_001074644 Location (UCSC) Chr 1: 226.63 – 226.74 Mb Chr 1: 180.33 – 180.42 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Inositol-trisphosphate 3-kinase B is an enzyme that in humans is encoded by the ITPKB gene. Function The

ITPK isoforms include ITPKA, ITPKB, and ITPKC, all of which contain a conserved catalytic unit in their C termini, but have unique N-terminal sequences and tissue distributions. This gene plays a role in both second messenger metabolism and calcium homeostasis. Skip to search form Skip to main content > Semantic Scholar's Logo. Search.

Expression of ITPKC (IP3-3KC, IP3KC) in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers.

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365 patients were recruited in this study. We previously identified 2 susceptibility genes for KD, inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) on 19q13.2 and caspase-3 (CASP3) on 4q34-35 through a genome-wide sib-pair study, followed 2007-12-16 · We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and itpkc inositol-trisphosphate 3-kinase C This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. ITPKC gene product. IP3-3KC, IP3KC.