Nebulin is an actin-binding protein which is localized to the thin filament of the sarcomeres in skeletal muscle. Nebulin in humans is coded for by the gene NEB. It is a very large protein and binds as many as 200 actin monomers. Because its length is proportional to thin filament length, it is believed that nebulin acts as a thin filament "ruler" and regulates thin filament length during sarcomere assembly and acts as the coats the actin filament. Other functions of nebulin, such as a role in cell signaling, remain uncertain.
Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably mossy fiber synaptic terminals in the cerebellum and hippocampus. In humans, dysbindin is encoded by the DTNBP1 gene.
Four and a half LIM domains protein 1 is a protein that in humans is encoded by the FHL1 gene.
Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.
Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.
Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.
Gem-associated protein 6 is a protein that in humans is encoded by the GEMIN6 gene. The gem-associated proteins are those found in the gems of Cajal bodies.
Myotubularin-related protein 3 is a protein that in humans is encoded by the MTMR3 gene.
Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is one of a class of ryanodine receptors and a protein found primarily in skeletal muscle. In humans, it is encoded by the RYR1 gene.
39S ribosomal protein L23, mitochondrial is a protein that in humans is encoded by the MRPL23 gene.
Voltage-dependent calcium channel gamma-1 subunit is a protein that in humans is encoded by the CACNG1 gene.
Gamma-aminobutyric acid receptor subunit rho-3 is a protein that in humans is encoded by the GABRR3 gene. The protein encoded by this gene is a subunit of the GABAA-ρ receptor.
Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.
Mitochondrial ribosomal protein L3 is a protein that in humans is encoded by the MRPL3 gene.
Coiled-coil domain-containing 78 (CCDC78) is a protein in humans encoded by the CCDC78 gene. It has several aliases including C16orf25, FLJ34512, CNM4, and JFP10. It is located on the (-) strand on chromosome 16 (16p13.3). Its gene neighborhood includes NARFL, HAGHL, FAM173A, and METRN. The CCDC78 gene is 10,892 base pairs long, and the protein contains 438 amino acids. The protein weighs approximately 4.852 KDal. There are several isoforms, including one indicated with a unique congenital myopathy. Several expression profiles show it has ubiquitous expression at moderate levels. Although no paralogs exist several orthologs do.
Rho associated coiled-coil containing protein kinase 2 is a protein that in humans is encoded by the ROCK2 gene. Fasudil is an inhibitor of ROCK protein.
TELO2 interacting protein 2 is a protein that in humans is encoded by the TTI2 gene.
Trafficking protein particle complex 11 is a protein that in humans is encoded by the TRAPPC11 gene.
Adenylosuccinate synthase like 1 is a protein that in humans is encoded by the ADSS1 gene.
Cytochrome c oxidase assembly factor COX14 is a protein that in humans is encoded by the COX14 gene. This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants.
