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NOVA2 | NOVA alternative splicing regulator 2. (571 aa) | ||||
BNC2 | Basonuclin 2. (1155 aa) | ||||
MYH7 | Myosin-7; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (1935 aa) | ||||
SPP1 | Osteopontin; Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction; Belongs to the osteopontin family. (311 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. (1828 aa) | ||||
MYH13 | Skeletal muscle myosin heavy chain MyHC-EO/IIL; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (1938 aa) | ||||
DYSF | Dysferlin. (2121 aa) | ||||
ACTN3 | Actinin alpha 3 (gene/pseudogene). (900 aa) | ||||
CASQ1 | Calsequestrin-1; Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity (By similarity). (395 aa) | ||||
ENO3 | Beta-enolase. (352 aa) | ||||
RYR1 | Ryanodine receptor 1; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high- level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (By similarity). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. [...] (4598 aa) | ||||
ATP1A2 | Sodium/potassium-transporting ATPase subunit alpha. (1019 aa) | ||||
HLCS | Holocarboxylase synthetase. (729 aa) | ||||
PDE4D | Phosphodiesterase. (808 aa) | ||||
CD40 | Uncharacterized protein. (494 aa) | ||||
CD38 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1; Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. (299 aa) | ||||
ALDOA | Fructose-bisphosphate aldolase A; Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein. Belongs to the class I fructose-bisphosphate aldolase family. (419 aa) | ||||
KLHL40 | Kelch like family member 40. (799 aa) | ||||
GAPDH | Glyceraldehyde-3-phosphate dehydrogenase; Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Glyceraldehyde-3-phosphate dehydrogenase is a key enzyme in glycolysis that catalyzes the first step of the pathway by converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations through its ability to stimulate the binding of CHP1 to microtubu [...] (333 aa) | ||||
ZMIZ1 | Zinc finger MIZ-type containing 1. (1060 aa) | ||||
NEB | Nebulin. (6666 aa) | ||||
CAMK2G | Protein kinase domain-containing protein. (592 aa) | ||||
SMAD4 | Mothers against decapentaplegic homolog. (552 aa) | ||||
ACTA1 | Actin, alpha skeletal muscle. (369 aa) | ||||
TCTEX1D1 | Tctex1 domain containing 1. (186 aa) | ||||
CELF2 | CUGBP Elav-like family member 2. (532 aa) | ||||
APOB | Apolipoprotein B; Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B- 100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor. (4573 aa) | ||||
KLF4 | Uncharacterized protein. (145 aa) | ||||
CILP | Cartilage intermediate layer protein. (1183 aa) | ||||
ACTC1 | Actin, alpha skeletal muscle, intermediate form; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. (377 aa) | ||||
TIMP3 | Metalloproteinase inhibitor 3; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli (By similarity). (211 aa) | ||||
ADAMTS19 | ADAM metallopeptidase with thrombospondin type 1 motif 19. (947 aa) | ||||
EGR1 | Early growth response protein; Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in the promoter region of target genes. Binds double-stranded target DNA, irrespective of the cytosine methylation status. Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Belongs to the EGR C2H2-type zinc-finger protein family. (700 aa) | ||||
COL22A1 | VWFA domain-containing protein. (1299 aa) | ||||
NCALD | Neurocalcin delta. (194 aa) | ||||
FOSL2 | FOS like 2, AP-1 transcription factor subunit. (326 aa) | ||||
ZNF385A | Zinc finger protein 385A. (445 aa) | ||||
SMC3 | Structural maintenance of chromosomes protein. (1244 aa) | ||||
CALM1 | Calmodulin; Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (By similarity). (149 aa) | ||||
MSTN | Myostatin. (375 aa) | ||||
SIM2 | SIM bHLH transcription factor 2. (611 aa) | ||||
THBS1 | Thrombospondin 1. (1171 aa) | ||||
CRYAB | Alpha-crystallin B chain; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions; Belongs to the small heat shock protein (HSP20) family. (175 aa) | ||||
UTRN | Utrophin. (3432 aa) | ||||
DMD | Uncharacterized protein. (956 aa) | ||||
LDHA | L-lactate dehydrogenase A chain. (430 aa) | ||||
MYOC | Myocilin, C-terminal fragment; Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. [...] (490 aa) | ||||
ALB | Serum albumin; Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (By similarity). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (B [...] (608 aa) | ||||
KIF21A | Kinesin family member 21A; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. (1655 aa) | ||||
PDK4 | Protein-serine/threonine kinase. (412 aa) | ||||
NR4A3 | Nuclear receptor subfamily 4 group A member 3. (636 aa) | ||||
GALNTL6 | Polypeptide N-acetylgalactosaminyltransferase. (601 aa) | ||||
ESRP2 | Epithelial splicing regulatory protein 2. (719 aa) | ||||
TSHR | Thyrotropin receptor; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Plays a central role in controlling thyroid cell metabolism. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. (764 aa) | ||||
TNNT3 | Troponin T, fast skeletal muscle; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. (202 aa) | ||||
ETAA1 | ETAA1 activator of ATR kinase. (872 aa) | ||||
PYGM | Glycogen phosphorylase, muscle form; Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. (829 aa) | ||||
CCN2 | Cellular communication network factor 2. (437 aa) | ||||
ENO2 | Beta-enolase; Appears to have a function in striated muscle development and regeneration; Belongs to the enolase family. (434 aa) |