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Product CategoryThis gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. [provided by RefSeq, Jul 2008]
Belongs to the G-protein coupled receptor 1 family. Mas subfamily.
ACADS is a homotetramer mitochondrial flavoprotein, which is a member of the acyl CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta oxidation pathway. Mutations in this gene have been associated with Short Chain Acyl CoA Dehydrogenase Deficiency.
The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle
CYFIP1 are cytoplasmic proteins belonging to the CYFIP family. Both proteins bind GTP-bound Rac 1 to release FRM1 in its active state, which is thought to regulate mRNA translation of neural cytoskeletal proteins. A loss of CYFIP1 and CYFIP2 leads to mutant neurons with defective axonal growth and motor function. Also designated specifically Rac1-associated protein 1 (sra-1) or p140sra-1, CYFIP1 contains 1,253 amino acids and is a component of the WAVE2 complex. CYFIP1 is encoded by a gene t
This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]