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MYOC | myocilin, trabecular meshwork inducible glucocorticoid response; May participate in the obstruction of fluid outflow in the trabecular meshwork (504 aa) | |||
VIM | vimentin (466 aa) | |||
MYL2 | myosin, light chain 2, regulatory, cardiac, slow (166 aa) | |||
USP6 | ubiquitin specific peptidase 6 (Tre-2 oncogene); Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6- dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation (1406 aa) | |||
TMOD1 | tropomodulin 1; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus (359 aa) | |||
PPP1R12C | protein phosphatase 1, regulatory subunit 12C; Regulates myosin phosphatase activity (782 aa) | |||
CGN | cingulin; Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier (1203 aa) | |||
MYL3 | myosin, light chain 3, alkali; ventricular, skeletal, slow; Regulatory light chain of myosin. Does not bind calcium (195 aa) | |||
PPP1CB | protein phosphatase 1, catalytic subunit, beta isozyme; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during [...] (327 aa) | |||
MYL1 | myosin, light chain 1, alkali; skeletal, fast; Regulatory light chain of myosin. Does not bind calcium (194 aa) | |||
TCAP | titin-cap; Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk (167 aa) | |||
ROCK2 | Rho-associated, coiled-coil containing protein kinase 2; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of ADD1, BRCA2, CNN1, EZR, DPYSL2, EP300, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM. Phosphorylates SORL1 and IRF4. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Positively regulates the activation of p42/MAPK1-p44/MA [...] (1388 aa) | |||
PPP1CA | protein phosphatase 1, catalytic subunit, alpha isozyme; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent p [...] (341 aa) | |||
NKX2-5 | NK2 homeobox 5; Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity) (324 aa) | |||
NFATC1 | nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1; Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (930 aa) | |||
GATA4 | GATA binding protein 4; Transcriptional activator. Binds to the consensus sequence 5’-AGATAG-3’. Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (442 aa) | |||
PPP1CC | protein phosphatase 1, catalytic subunit, gamma isozyme; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Dephosphorylates RPS6KB1. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density- associated Ca [...] (323 aa) | |||
MYL4 | myosin, light chain 4, alkali; atrial, embryonic; Regulatory light chain of myosin. Does not bind calcium (197 aa) | |||
MYBPC2 | myosin binding protein C, fast type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role (1141 aa) | |||
MYBPC1 | myosin binding protein C, slow type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role (1171 aa) | |||
DMD | dystrophin (3685 aa) | |||
CDC42BPA | CDC42 binding protein kinase alpha (DMPK-like) (1719 aa) | |||
DES | desmin (470 aa) | |||
NEB | nebulin (8525 aa) | |||
ROCK1 | Rho-associated, coiled-coil containing protein kinase 1; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, PFN1 and PPP1R12A. Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing. Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induc [...] (1354 aa) | |||
MYBPC3 | myosin binding protein C, cardiac; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role (1274 aa) |