Pathways > Joubert Syndrome
Page last updated: 2024-10-06

Joubert Syndrome

Proteins (22)

ProteinSynonymsTaxonomy
Beclin-1Coiled-coil myosin-like BCL2-interacting protein; Protein GT197Homo sapiens (human)
Receptor protein-tyrosine kinase Homo sapiens (human)
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoformPI3-kinase subunit delta; PI3K-delta; PI3Kdelta; PtdIns-3-kinase subunit delta; EC 2.7.1.137; EC 2.7.1.153; Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta; PtdIns-3-kinase subunit p110-delta; p110deltaHomo sapiens (human)
Receptor tyrosine-protein kinase erbB-2EC 2.7.10.1; Metastatic lymph node gene 19 protein; MLN 19; Proto-oncogene Neu; Proto-oncogene c-ErbB-2; Tyrosine kinase-type cell surface receptor HER2; p185erbB2Homo sapiens (human)
Phosphatidylinositol 3-kinase catalytic subunit type 3PI3-kinase type 3; PI3K type 3; PtdIns-3-kinase type 3; EC 2.7.1.137; Phosphatidylinositol 3-kinase p100 subunit; Phosphoinositide-3-kinase class 3; hVps34Homo sapiens (human)
1-phosphatidylinositol 3-phosphate 5-kinasePhosphatidylinositol 3-phosphate 5-kinase; EC 2.7.1.150; FYVE finger-containing phosphoinositide kinase; PIKfyve; Phosphatidylinositol 3-phosphate 5-kinase type III; PIPkin-III; Type III PIP kinase; Serine-protein kinase PIKFYVE; 2.7.11.1Homo sapiens (human)
Phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase regulatory subunit alpha; PI3K regulatory subunit alpha; PtdIns-3-kinase regulatory subunit alpha; Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha; PI3-kinase subunit p85-alpha; PtdIns-3-kinase regulatory subunit p85-alphaHomo sapiens (human)
Phosphatidylinositol 4-phosphate 5-kinase type-1 alphaPIP5K1-alpha; PtdIns(4)P-5-kinase 1 alpha; EC 2.7.1.68; 68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha; Phosphatidylinositol 4-phosphate 5-kinase type I alpha; PIP5KIalphaHomo sapiens (human)
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENEC 3.1.3.16; EC 3.1.3.48; EC 3.1.3.67; Mutated in multiple advanced cancers 1; Phosphatase and tensin homologHomo sapiens (human)
Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 EC 3.1.3.86; Inositol polyphosphate-5-phosphatase D; 3.1.3.56; Inositol polyphosphate-5-phosphatase of 145 kDa; SIP-145; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; 3.1.3.36; SH2 domain-containing inositol 5'-phosphatase 1; SH2 domain-containing Homo sapiens (human)
Phosphoinositide 3-kinase regulatory subunit 4PI3-kinase regulatory subunit 4; EC 2.7.11.1; PI3-kinase p150 subunit; Phosphoinositide 3-kinase adaptor proteinHomo sapiens (human)
Synaptojanin-1EC 3.1.3.36; Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1Homo sapiens (human)
Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alphaPI3K-C2-alpha; PtdIns-3-kinase C2 subunit alpha; EC 2.7.1.137; EC 2.7.1.153; EC 2.7.1.154; Phosphoinositide 3-kinase-C2-alphaHomo sapiens (human)
Phosphatidylinositol 4-kinase alphaPI4-kinase alpha; PI4K-alpha; PtdIns-4-kinase alpha; EC 2.7.1.67; Phosphatidylinositol 4-Kinase III alphaHomo sapiens (human)
Phosphatidylinositol 5-phosphate 4-kinase type-2 alphaEC 2.7.1.149; 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha; Diphosphoinositide kinase 2-alpha; PIP5KIII; Phosphatidylinositol 5-Phosphate 4-Kinase; PI5P4Kalpha; Phosphatidylinositol 5-phosphate 4-kinase type II alpha; PI(5)P 4-kinase type II alpha;Homo sapiens (human)
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1EC 3.1.4.11; PLC-154; Phosphoinositide phospholipase C-beta-1; Phospholipase C-I; PLC-I; Phospholipase C-beta-1; PLC-beta-1Homo sapiens (human)
Polyphosphoinositide phosphataseEC 3.1.3.-; Phosphatidylinositol 3,5-bisphosphate 5-phosphatase; SAC domain-containing protein 3Homo sapiens (human)
Phosphatidylinositol polyphosphate 5-phosphatase type IV72 kDa inositol polyphosphate 5-phosphatase; Inositol polyphosphate-5-phosphatase E; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; 3.1.3.36; Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase; 3.1.3.86Homo sapiens (human)
CDP-diacylglycerol--inositol 3-phosphatidyltransferaseEC 2.7.8.11; Phosphatidylinositol synthase; PI synthase; PtdIns synthaseHomo sapiens (human)
Inositol polyphosphate 4-phosphatase type IIType II inositol 3,4-bisphosphate 4-phosphatase; 3.1.3.66Homo sapiens (human)
Protein VAC14 homologTax1-binding protein 2Homo sapiens (human)
Activating molecule in BECN1-regulated autophagy protein 1Homo sapiens (human)

Compounds (8)

CompoundDescription
Orthophosphate
Adenosine TriphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
inositolAn isomer of glucose that has traditionally been considered to be a B vitamin although it has an uncertain status as a vitamin and a deficiency syndrome has not been identified in man. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1379) Inositol phospholipids are important in signal transduction.
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
inositol 1,4,5-trisphosphateIntracellular messenger formed by the action of phospholipase C on phosphatidylinositol 4,5-bisphosphate, which is one of the phospholipids that make up the cell membrane. Inositol 1,4,5-trisphosphate is released into the cytoplasm where it releases calcium ions from internal stores within the cell's endoplasmic reticulum. These calcium ions stimulate the activity of B kinase or calmodulin.
1-palmitoyl-2-oleoyl-sn-glycerola long-chain diacylglycerol; RN given refers to compound with no isomeric designation of the glycerol C2
cytidine monophosphateCytidine (dihydrogen phosphate). A cytosine nucleotide containing one phosphate group esterified to the sugar moiety in the 2', 3' or 5' position.