WD40 Repeat
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WD40 Repeat
The WD40 repeat (also known as the WD or beta-transducin repeat) is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide. Tandem copies of these repeats typically fold together to form a type of circular solenoid protein domain called the WD40 domain. Structure WD40 domain-containing proteins have 4 to 16 repeating units, all of which are thought to form a circularised beta-propeller structure (see figure to the right). The WD40 domain is composed of several repeats, a variable region of around 20 residues at the beginning followed by a more common repeated set of residues. These repeats typically form a four stranded anti-parallel beta sheet or blade. These blades come together to form a propeller with the most common being a 7 bladed beta propeller. The blades interlock so that the last beta strand of one repeat forms with the first three of the next repeat to form the 3D blade structure. Function WD40-repe ...
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Ribbon Diagram
Ribbon diagrams, also known as Richardson diagrams, are three-dimensional space, 3D schematic representations of protein structure and are one of the most common methods of protein depiction used today. The ribbon shows the overall path and organization of the protein backbone in 3D, and serves as a visual framework on which to hang details of the full atomic structure, such as the balls for the oxygen atoms bound to the active site of myoglobin in the adjacent image. Ribbon diagrams are generated by interpolating a smooth curve through the polypeptide backbone. Alpha helix, α-helices are shown as coiled ribbons or thick tubes, Beta strand, β-strands as arrows, and non-repetitive coils or loops as lines or thin tubes. The direction of the Peptide, polypeptide chain is shown locally by the arrows, and may be indicated overall by a colour ramp along the length of the ribbon. Ribbon diagrams are simple yet powerful, expressing the visual basics of a molecular structure (twist, fold ...
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Scaffold Protein
In biology, scaffold proteins are crucial regulators of many key signalling pathways. Although scaffolds are not strictly defined in function, they are known to interact and/or bind with multiple members of a signalling pathway, tethering them into complexes. In such pathways, they regulate signal transduction and help localize pathway components (organized in complexes) to specific areas of the cell such as the plasma membrane, the cytoplasm, the nucleus, the Golgi, endosomes, and the mitochondria. History The first signaling scaffold protein discovered was the Ste5 protein from the yeast ''Saccharomyces cerevisiae''. Three distinct domains of Ste5 were shown to associate with the protein kinases Ste11, Ste7, and Fus3 to form a multikinase complex. Function Scaffold proteins act in at least four ways: tethering signaling components, localizing these components to specific areas of the cell, regulating signal transduction by coordinating positive and negative feedback s ...
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BRWD1
Bromodomain and WD repeat-containing protein 1 (BRWD1) also known as WD repeat-containing protein 9 (WDR9) is a protein that in humans is encoded by the ''BRWD1'' gene. Function This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp- Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and 8 WD repeats, and the function of this protein is not known. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates 3 transcript variants diverging at the 3' ends. See also * BRWD3 * WDR11 WD repeat-containing protein 11 (WDR11) also known as bromodomain and WD repeat-containing pro ...
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BOP1
Ribosome biogenesis protein BOP1 is a protein that in humans is encoded by the ''BOP1'' gene. Function It is a WD40 repeat-containing nucleolus, nucleolar protein involved in rRNA processing, thereby controlling the Cell (biology), cell cycle. It is required for the maturation of the 25S and 5.8S rRNA, ribosomal RNAs. It may serve as an essential factor in ribosome formation that coordinates processing of the spacer regions in pre-rRNA. The Pes1-Bop1 Protein complex, complex has several components: BOP1, GRWD1, PES1, ORC6L, and RPL3 and is involved in ribosome biogenesis and altered chromosome segregation. The overexpression of BOP1 increases the percentage of multipolar spindles in human cells. Deregulation of the BOP1 pathway may contribute to colorectal tumourigenesis in Homo sapiens, humans. Elevated levels of Bop1 induces Bop1/WDR12 and Bop1/Pes1 subcomplexes and the assembly and integrity of the PeBoW complex is highly sensitive to changes in Bop1 protein levels. Nop7p-ER ...
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ATG16L1
Autophagy related 16 like 1 is a protein that in humans is encoded by the ''ATG16L1'' gene. This protein is characterized as a subunit of the autophagy-related ATG12-ATG5/ATG16 complex and is essentially important for the LC3 (ATG8) lipidation and autophagosome formation. This complex localizes to the membrane and is released just before or after autophagosome completion. Furthermore, ATG16L1 appears to have other autophagy-independent functions, e.g., intracellular membrane trafficking regulation and inflammation. Autophagy in general plays a crucial role in pathways leading to innate and adaptive immunity activation. That is why many autophagy-related proteins, including ATG16L1, their gene expression and its role in autoimmune diseases are studied in-depth nowadays. Function Autophagy is the major intracellular degradation system delivering cytoplasmic components to lysosomes, and it accounts for degradation of most long-lived proteins and some organelles. Cytoplasmic consti ...
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ARPC1B
Actin-related protein 2/3 complex subunit 1B is a protein that in humans is encoded by the ''ARPC1B'' gene. Function This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that facilitates branching of actin filaments in cells. Isoforms of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Indeed, it has recently been shown that variants of the Arp2/3 complex differ in their ability to promote actin assembly, with complexes containing ARPC1B and ARPC5L being better at this than those containing ARPC1A and ARPC5. The differing functions of ARPC1A and ARPC1B are also evident in the recent discovery of patients with severe or total ARPC1B deficiency, who have platelet and i ...
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ARPC1A
Actin-related protein 2/3 complex subunit 1A is a protein that in humans is encoded by the ''ARPC1A'' gene. This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B Actin-related protein 2/3 complex subunit 1B is a protein that in humans is encoded by the ''ARPC1B'' gene. Function This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of pr .... The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Ref ...
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APAF1
Apoptotic protease activating factor 1, also known as APAF1, is a human homolog of ''C. elegans'' CED-4 gene. Function The protein was identified in the lab of Xiaodong Wang as an activator of caspase-3 in the presense of cytochromeC and dATP. This gene encodes a cytoplasmic protein that forms one of the central hubs in the apoptosis regulatory network. This protein contains (from the N terminal) a caspase recruitment domain (CARD), an ATPase domain (NB-ARC), few short helical domains and then several copies of the WD40 repeat domain. Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves Procaspase-9 protein, releasing its mature, activated form. The precise mechanism for this reaction is still debated though work published by Guy Salvesen suggests that the apoptosome may induce caspase-9 dimerization and subsequent autocatalysis. Activated caspase-9 stimulates the subsequent caspase cascade that commits the cell to ...
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AHI1
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and co ...
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AAMP (gene)
Angio-associated, migratory cell protein, also known as AAMP, is a protein which in humans is encoded by the ''AAMP'' gene. This protein has been conserved in evolution and is so common to many mammals. and it also has a yeast homolog which is the protein YCR072c. Localisation The gene is located on the second human chromosome, near the end of the chromosome's arm (2q35), between the codons 85-87 and 1387–1389. It contains 6042 bp and 11 exons When transcribed, it gives a 1859 bp mRNA. . The vascular endothelial growth factor is a promoting factor of the protein synthesis and localisation in the different parts of the cells. The protein's expression is higher in the intracellular than in the extracellular space. Function The gene product is an immunoglobulin-type protein of 434 amino acids and 49 kDa. It is found to be expressed strongly in the cytosol of endothelial cells, cytotrophoblasts, and poorly differentiated colon adenocarcinoma cells found in lymphatics and has b ...
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AAAS (gene)
AladinTM, also known as adracalin, is a nuclear envelope protein that in humans is encoded by the ''AAAS'' gene. It is named after the achalasia–addisonianism–alacrima syndrome (triple A syndrome) which occurs when the gene is mutated. Function Aladin is a component of the nuclear pore complex, to which it is attached by nucleoporin NDC1. Mutant aladin causes selective failure of nuclear protein import and hypersensitivity to oxidative stress. Mutant aladin also causes decreased nuclear import of aprataxin, a repair protein for single-strand breaks, and DNA ligase I, employed in DNA base excision repair. These decreases in DNA repair proteins may increase the susceptibility of cells to oxidative stress by allowing accumulation of oxidative DNA damages that trigger cell death. Clinical significance Mutations in the AAAS gene are responsible for Triple A syndrome (also known as Allgrove Syndrome). Triple-A syndrome is an autosomal recessive neuroendocrinological dis ...
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