|
Biogenesis Of Lysosome-related Organelles Complex 1
BLOC-1 or biogenesis of lysosome-related organelles complex 1 is a ubiquitously expressed multisubunit protein complex in a group of complexes that also includes BLOC-2 and BLOC-3. BLOC-1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. These organelles are called LROs (lysosome-related organelles) which are apparent in specific cell-types, such as melanocytes. The importance of BLOC-1 in membrane trafficking appears to extend beyond such LROs, as it has demonstrated roles in normal protein-sorting, normal membrane biogenesis, as well as vesicular trafficking. Thus, BLOC-1 is multi-purposed, with adaptable function depending on both organism and cell-type. Mutations in all BLOC complexes lead to diseased states characterized by Hermansky-Pudlak Syndrome (HPS), a pigmentation disorder subdivided into multiple types depending on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mouse Brain
The mouse brain refers to the brain of Mus musculus. Various brain atlases exist. For reasons of reproducibility, genetically characterized, stable strains like C57BL/6 were chosen to produce high-resolution images and databases. Well known online resources include: *Allen Brain Atlas * Mouse Brain LibraryHigh resolution mouse brain atlas*BrainMaps High-Resolution Brain Maps and Brain Atlases of ''Mus musculus'' Despite superficial differences, especially in size and weight, the mouse brain and its function can serve as a powerful animal model for study of human brain diseases or mental disorders (see e.g. Reeler, Chakragati mouse). This is because the genes responsible for building and operating both mouse and human brain are 90% identical. Transgenic mouse lines also allow neuroscientists to specifically target the labeling of certain cell types to probe the neural basis of fundamental processes. Anatomy The cerebral cortex of a mouse has around 8–14 million neurons while in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pallidin
Pallidin is a protein that in humans is encoded by the ''PLDN'' gene. Function The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. Interactions PLDN has been shown to interact with: * BLOC1S1, * BLOC1S2, * CNO, * Dysbindin, * MUTED, * SNAPAP SNARE-associated protein Snapin is a protein that in humans is encoded by the ''SNAPIN'' gene. Function SNAPAP is a component of the SNARE complex of proteins that is required for synaptic vesicle docking and fusion. SNAPAP is also a component ..., and * STX12. References Further reading * * * * * * * * * * * * {{gene-15-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muted (protein)
Protein Muted homolog is a protein that in humans is encoded by the ''MUTED'' gene. Function This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky–Pudlak syndrome is mutated in the murine version of this gene. Some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene. Interactions MUTED has been shown to interact with BLOC1S2, Dysbindin and PLDN Pallidin is a protein that in humans is encoded by the ''PLDN'' gene. Function The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Se .... References Further reading * * * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysbindin
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. Clinical significance Much interest in dysbindin has arisen through pedigree-based family-association studies of families with a history of schizophrenia, where a strong association was found between expression of a particular dysbindin allele and a clinical expression of schizophrenia. However, the genetic link between dysbindin and schizophrenia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cappuccino (protein)
Protein cappuccino homolog is a protein that in humans is encoded by the ''CNO'' gene. This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky–Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. Interactions CNO (gene) has been shown to interact with BLOC1S2 and PLDN Pallidin is a protein that in humans is encoded by the ''PLDN'' gene. Function The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Se .... References External links * Further reading * * * * * * {{gene-4-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BLOS1
Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the ''BLOC1S1'' gene. BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004). upplied by OMIMref name="entrez" /> Interactions BLOC1S1 has been shown to interact with BLOC1S2, SNAPAP and PLDN Pallidin is a protein that in humans is encoded by the ''PLDN'' gene. Function The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Se .... References External links * Further reading * * * * * * * {{gene-12-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BLOS2
Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the ''BLOC1S2'' gene. Interactions BLOC1S2 has been shown to interact with BLOC1S1, SNAPAP, MUTED, CNO and PLDN Pallidin is a protein that in humans is encoded by the ''PLDN'' gene. Function The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Se .... References External links * Further reading * * * * * * * * {{gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
