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| Tcap | Telethonin; Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk (By similarity). (167 aa) | ||||
| Myh4 | Myosin-4; Muscle contraction. (1939 aa) | ||||
| Ldb3 | LIM domain-binding protein 3; May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton. (723 aa) | ||||
| H2-K1 | H-2 class I histocompatibility antigen, K-B alpha chain; Involved in the presentation of foreign antigens to the immune system; Belongs to the MHC class I family. (369 aa) | ||||
| Ighmbp2 | DNA-binding protein SMUBP-2; 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region (By similarity). May be involved in translation. DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch regio [...] (993 aa) | ||||
| Als2 | Alsin; May act as a GTPase regulator. Controls survival and growth of spinal motoneurons. (1651 aa) | ||||
| Des | Desmin; Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (By similarity). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. May act as a sarcomeric m [...] (469 aa) | ||||
| Lamc1 | Laminin subunit gamma-1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. (1607 aa) | ||||
| 1700013F07Rik | Protein C1orf194 homolog; May play an important role for the maintenance of myelin-axon integrity. May affect intracellular Ca(2+) homeostasis (By similarity). (168 aa) | ||||
| Atad3a | ATPase family AAA domain-containing protein 3; Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis (By similarity); Belongs to the AAA ATPase family. (591 aa) | ||||
| Slc6a8 | Sodium- and chloride-dependent creatine transporter 1; Required for the uptake of creatine. Plays an important role in supplying creatine to the brain via the blood-brain barrier. (640 aa) | ||||
| Asah1 | Acid ceramidase subunit alpha; Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (By similarity). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (By simil [...] (394 aa) | ||||
| Bub1b | Mitotic checkpoint serine/threonine-protein kinase BUB1 beta; Essential component of the mitotic checkpoint. Required for normal mitosis progression and tumor suppression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore local [...] (1052 aa) | ||||
| Zfp106 | Zinc finger protein 106; RNA-binding protein. Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA. Essential for maintenance of peripheral motor neuron and skeletal muscle function. Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4. Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism. (1888 aa) | ||||
| Vapb | Vesicle-associated membrane protein-associated protein B; Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation. (243 aa) | ||||
| Chat | Choline O-acetyltransferase; Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses; Belongs to the carnitine/choline acetyltransferase family. (645 aa) | ||||
| Plec | Plectin; Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. May be involved not only in the cross-linking and stabilization of cytoskeletal intermediate filaments network, but also in the regulation of their dynamics; Belongs to the plakin or cytolinker family. (4691 aa) | ||||
| Lmod3 | Leiomodin-3; Essential for the organization of sarcomeric actin thin filaments in skeletal muscle. Increases the rate of actin polymerization (By similarity). Belongs to the tropomodulin family. (571 aa) | ||||
| Ttpa | Alpha-tocopherol transfer protein; Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells. Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5- bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol. (278 aa) | ||||
| Itga7 | Integrin alpha-7 heavy chain; Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. Involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Mice carrying a ITGA7 null allele are viable and fertile, but show progressive muscular dystrophy starting soon after birth, but with a distinct variabi [...] (1136 aa) | ||||
| Adarb1 | Double-stranded RNA-specific editase 1; Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependen [...] (711 aa) | ||||
| Col13a1 | Collagen alpha-1(XIII) chain; Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering. (739 aa) | ||||
| Wasf1 | Wiskott-Aldrich syndrome protein family member 1; Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes ; Belongs to the SCAR/WAVE family. (559 aa) | ||||
| Clcc1 | Chloride channel CLIC-like protein 1; Seems to act as a chloride ion channel (By similarity). Plays a role in retina development. Belongs to the chloride channel MCLC family. (544 aa) | ||||
| Plaa | Phospholipase A-2-activating protein; Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (By similarity). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling. May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (By similarity). Plays a role in cerebellar Purkinje cell development. Positively regulates cytosolic and calcium- independent phospholipase A2 activities in a tumor necrosis factor a [...] (794 aa) | ||||
| Tnnt1 | Troponin T, slow 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. (262 aa) | ||||
| Ttn | Titin; Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase. (32000 aa) | ||||
| Gfpt1 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1. (681 aa) | ||||
| Dmd | Dystrophin; Anchors the extracellular matrix to the cytoskeleton via F- actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. (3678 aa) | ||||
| Barx2 | Homeobox protein BarH-like 2; Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia; Belongs to the BAR homeobox family. (283 aa) | ||||
| Vegfa | Vascular endothelial growth factor A; Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. May play a role in increasing vascular permeability during lactation, when increased transport of molecules from the blood is required for efficient milk protein synthesis (By similarity). Binding to NRP1 receptor initiates a signaling pathway needed for motor [...] (392 aa) | ||||
| Mtm1 | Myotubularin; Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology (By similarity). Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle mainte [...] (603 aa) | ||||
| Slc18a3 | Vesicular acetylcholine transporter; Involved in acetylcholine transport into synaptic vesicles. Belongs to the major facilitator superfamily. Vesicular transporter family. (530 aa) | ||||