Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. [5] [6] [7] In humans it is coded for by the MYO5A gene. [8] [9] [10]
Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. [5] [6] [7] In humans it is coded for by the MYO5A gene. [8] [9] [10]
In the presence of cargo adapters and calcium, unconventional myosin Va is present in an elongated and active state. It has an N-terminal head domain and a C-terminal tail domain. The actin-binding head (N-Terminal) is an ATP-dependent motor domain that transmits changes from the active site to the light chain lever arm. The C-terminal globular domain (GB) decides the Myosin class and moderate the cargo transport. Also, the GB interacts with other cargo specific proteins. Myosin Va is highly expressed in neurons and melanocytes. [5] [6]
MYO5A has been shown to interact with DYNLL1, [11] RAB27A, [12] [13] DYNLL2, [11] [14] RPGRIP1L, [15] and Rab3A. [6]
Myosins are a superfamily of motor proteins best known for their roles in muscle contraction and in a wide range of other motility processes in eukaryotes. They are ATP-dependent and responsible for actin-based motility.
Rab27 is a member of the Rab subfamily of GTPases. Rab27 is post translationally modified by the addition of two geranylgeranyl groups on the two C-terminal cysteines.
Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities.
Myosin VIIA is protein that in humans is encoded by the MYO7A gene. Myosin VIIA is a member of the unconventional myosin superfamily of proteins. Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.
Melanophilin is a carrier protein which in humans is encoded by the MLPH gene. 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.
Unconventional myosin-VI, is a protein that in humans is coded for by MYO6. Unconventional myosin-VI is a myosin molecular motor involved in intracellular vesicle and organelle transport.
MYO9B is a gene that encodes the Myosin-IXb protein.
Synaptotagmin-like 2, also known as SYTL2, is a human gene.
Rabphilin-3A is a protein that in humans is encoded by the RPH3A gene. It contains two C2 domains and binds calcium ions at low micromolar concentration. Rabphilin was shown to regulate neurotransmitter release in hippocampal neurons after neurons had an increased synaptic activity and their release rate was depressed.
Disks large-associated protein 1 (DAP-1), also known as guanylate kinase-associated protein (GKAP), is a protein that in humans is encoded by the DLGAP1 gene. DAP-1 is known to be highly enriched in synaptosomal preparations of the brain, and present in the post-synaptic density.
Myosin X, also known as MYO10, is a protein that in humans is encoded by the MYO10 gene.
Ras-related protein Rab-3B is a protein that in humans is encoded by the RAB3B gene.
Myosin-14 is a protein that in humans is encoded by the MYH14 gene.
Unconventional myosin-Ia is a protein that in humans is encoded by the MYO1A gene.
Myosin-Vb, a myosin V type protein, is encoded by the MYO5B gene in humans.
Synaptotagmin-like protein 1 is a protein that in humans is encoded by the SYTL1 gene.
Ras-related protein Rab-40A is a protein that in humans is encoded by the RAB40A gene.
Dynein light chain 2, cytoplasmic is a protein that in humans is encoded by the DYNLL2 gene.
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.
Myosin-XV is a protein that in humans is encoded by the MYO15A gene.
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