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| C12orf57 | Protein C10; In brain, may be required for corpus callusum development; Belongs to the UPF0456 family (126 aa) | |||
| ENO1 | Alpha-enolase; Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production; Belongs to the enolase family (434 aa) | |||
| SRI | Sorcin; Calcium-binding protein that modulates excitation- contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels; EF-hand domain containing (198 aa) | |||
| CACNA1C | Voltage-dependent L-type calcium channel subunit alpha-1C; 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-1C 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 by o [...] (2186 aa) | |||
| SOD1 | Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems (154 aa) | |||
| ANKRD40 | Ankyrin repeat domain-containing protein 40; Ankyrin repeat domain containing (368 aa) | |||
| SSNA1 | SS nuclear autoantigen 1 (119 aa) | |||
| RUVBL1 | RuvB-like 1; May be able to bind plasminogen at cell surface and enhance plasminogen activation; AAA ATPases (456 aa) | |||
| MPI | Mannose-6-phosphate isomerase; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions; Belongs to the mannose-6-phosphate isomerase type 1 family (423 aa) | |||
| SNCA | Alpha-synuclein; May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation; Parkinson disease associated genes (140 aa) | |||
| PDE4C | cAMP-specific 3’,5’-cyclic phosphodiesterase 4C; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes; Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily (712 aa) | |||
| CACNA1S | Voltage-dependent L-type calcium channel subunit alpha-1S; Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the ’high-voltage activated’ (HVA) group (1873 aa) | |||
| RYR2 | Ryanodine receptor 2; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development; Belongs to the ryanodine rec [...] (4967 aa) | |||
| PSEN2 | Presenilin-2; Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins (448 aa) | |||
| TIAL1 | Nucleolysin TIAR; RNA-binding protein. Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis (392 aa) | |||
| RWDD2A | RWD domain containing 2A (292 aa) | |||
| SEC31B | Protein transport protein Sec31B; As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum; Belongs to the WD repeat SEC31 family (1179 aa) | |||
| ANXA7 | Annexin A7; Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis; Belongs to the annexin family (488 aa) | |||
| PIR | Pirin; Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro); Belongs to the pirin family (290 aa) | |||
| SRPK2 | SRSF protein kinase 2; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Promotes neuronal apoptosis by up-regulating cyclin-D1 (CCND1) expression. This is done by the phosphorylation of SRSF2, leading to the suppression of p53/TP53 phosphorylation thereby relieving the repressive effect of p53/TP53 on cyclin-D1 (CCND1) expression. Phosphorylates ACIN1, and [...] (699 aa) | |||
| SEC31A | Protein transport protein Sec31A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity); WD repeat domain containing (1220 aa) | |||
| TKT | Transketolase; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate; Belongs to the transketolase family (631 aa) | |||
| GCA | Grancalcin; Calcium-binding protein that may play a role in the adhesion of neutrophils to fibronectin. May play a role in the formation of focal adhesions; EF-hand domain containing (217 aa) | |||
| ANXA11 | Annexin A11; Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis; Belongs to the annexin family (505 aa) | |||
| PDCD6IP | Programmed cell death 6-interacting protein; Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires [...] (873 aa) | |||
| ALG2 | Alpha-1,3/1,6-mannosyltransferase ALG2; Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily (416 aa) | |||
