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RANBP9 | RAN binding protein 9; May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. May be involved in signaling of ITGB2/LFA-1 and other integrins. Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but not affect estrogen-induced transactivation. Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity. Inhibits the kinase activity o [...] (729 aa) | |||
MYO5C | myosin VC; May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues (1742 aa) | |||
TRPV5 | transient receptor potential cation channel, subfamily V, member 5; Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine. The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca(2+)- dependent feedback regulation includes fast channel inactivation and slow current decay. Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity) (729 aa) | |||
CALB1 | calbindin 1, 28kDa; Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3’,5’-cyclic nucleotide phosphodiesterase (261 aa) | |||
IQGAP1 | IQ motif containing GTPase activating protein 1; Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth (1657 aa) | |||
PI4KB | phosphatidylinositol 4-kinase, catalytic, beta; Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol- 1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization during mitosis, possibly via its phosphorylation. Involved in Golgi-to-plasma membrane trafficking (By similarity) (828 aa) | |||
IQGAP2 | IQ motif containing GTPase activating protein 2; Binds to activated CDC42 and RAC1 but does not seem to stimulate their GTPase activity. Associates with calmodulin (1575 aa) | |||
MYO5B | myosin VB; May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis (By similarity) (1848 aa) | |||
CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D subunit; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the ’high-voltage activated’ (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and b [...] (2181 aa) | |||
ARPC2 | actin related protein 2/3 complex, subunit 2, 34kDa; Functions as actin-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. Seems to contact the mother actin filament (300 aa) | |||
CASP3 | caspase 3, apoptosis-related cysteine peptidase; Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a ’216-Asp-|-Gly-217’ bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop- helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage (277 aa) | |||
IQCB1 | IQ motif containing B1; Involved in ciliogenesis (By similarity) (598 aa) | |||
MYO9A | myosin IXA (2548 aa) | |||
POTEF | POTE ankyrin domain family, member F (1075 aa) | |||
TRPV6 | transient receptor potential cation channel, subfamily V, member 6; Calcium selective cation channel probably involved in Ca(2+) uptake in various tissues, including Ca(2+) reabsorption in intestine. The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes both, a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin- dependent mechanism, the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. H [...] (725 aa) | |||
IQGAP3 | IQ motif containing GTPase activating protein 3 (1631 aa) | |||
TPR | translocated promoter region, nuclear basket protein; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalization in interphase, and in the mitotic spindle checkpoint signaling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates t [...] (2363 aa) | |||
IKBKG | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma; Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either ’Lys-63’- linked or linear polyubiquitin) and its functional importance is reported conflictingly. Als [...] (487 aa) | |||
BLOC1S2 | biogenesis of lysosomal organelles complex-1, subunit 2; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. May play a role in [...] (142 aa) | |||
MYO9B | myosin IXB; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. May be involved in the remodeling of the actin cytoskeleton. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions. Also acts as a GTPase activating protein on Rho (2022 aa) | |||
MYO5A | myosin VA (heavy chain 12, myoxin); Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation (1855 aa) | |||
POTEJ | POTE ankyrin domain family, member J (1038 aa) | |||
POTEI | POTE ankyrin domain family, member I (1075 aa) | |||
IMPA1 | inositol(myo)-1(or 4)-monophosphatase 1; Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol- phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1- phosphate, beta-glycerophosphate, and 2’-AMP as substrates (336 aa) | |||
POTEE | POTE ankyrin domain family member E (1075 aa) | |||
OBSCN | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (8678 aa) |