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Myomegalin
Myomegalin, also known as phosphodiesterase 4D-interacting protein or cardiomyopathy-associated protein 2, is a protein that in humans is encoded by the ''PDE4DIP'' gene. It has roles in the formation of microtubules from the centrosome. Its name derives from the fact that it is highly expressed in units of tubular myofibrils known as sarcomeres and is a large protein, at 2,324 amino acids. It was first characterised in 2000. Structure and function Myomegalin is mostly composed of alpha-helix and coiled-coil structures and has domains shared with microtubule-associated proteins. It has several isoforms, at least two of which have been characterised, CM-MMG and EB-MMG. Myomegalin is necessary for the sufficient growth of microtubules from the centrosomes. The CM-MMG isoform binds at the centrosome with γ-tubulin in an AKAP9-dependent manner and on the near side of the Golgi apparatus, while the EB-MMG isoform binds with MAPRE1 at the Golgi apparatus and increases MAPRE1's ef ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PDE4D
cAMP-specific 3',5'-cyclic phosphodiesterase 4D is an enzyme that in humans is encoded by the ''PDE4D'' gene. Function The PDE4D gene is complex and has at least 9 different isoforms that encode functional proteins. These proteins degrade the second messenger cAMP, which is a key signal transduction molecule in multiple cell types, including vascular cells (Dominiczak and McBride, 2003). upplied by OMIMref name="entrez"> Interactions PDE4D has been shown to interact with myomegalin and GNB2L1. Clinical relevance Mutations in this gene have been associated to cases of acrodysostosis. This is the subtype of PDE4 that appears to be involved in the emetic and antidepressant effects of PDE4 inhibitor A phosphodiesterase-4 inhibitor, commonly referred to as a PDE4 inhibitor, is a drug used to block the degradative action of phosphodiesterase 4 (PDE4) on cyclic adenosine monophosphate (cAMP). It is a member of the larger family of PDE inhibitor ...s. Furthermore, changes in ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Olduvai Domain
The Olduvai domain, known until 2018 as DUF1220 (domain of unknown function 1220) and the NBPF repeat, is a protein domain that shows a striking human lineage-specific (HLS) increase in copy number and appears to be involved in human brain evolution. The protein domain has also been linked to several neurogenetic disorders such as schizophrenia (in reduced copies) and increased severity of autism (in increased copies). In 2018, it was named by its discoverers after Olduvai Gorge in Tanzania, one of the most important archaeological sites for early humans, to reflect data indicating its role in human brain size and evolution. Olduvai domains form the core of ''NBPF'' genes, which first appeared in placental mammals and experienced a rapid expansion in monkeys (simians) through duplication to reach over 20 genes in humans. In humans, Olduvai domains are repeated often dozens of times within these genes. The only other gene an Olduvai domain has been found in is mammalian myomegalin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDK5RAP2
CDK5 regulatory subunit-associated protein 2 is a protein that in humans is encoded by the ''CDK5RAP2'' gene. It has necessary roles in the formation and stability of microtubules from the centrosome and has been found to be linked to human brain size variation in males. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined. CDK5RAP2 is homologous to the ''Drosophila'' protein centrosomin (cnn) and paralogous to myomegalin, which in mammals contains an Olduvai domain, a domain implicated in human brain size evolution. Function CDK5RAP2 is necessary for the proper formation, anchoring and orientation of microtubules from the centrosome. It binds with the γ-tubulin ring complex (γTuRC), and this is required for the γTuRC to attach to the centrosome. CDK5RAP2 also binds to p25, a form of CDK5R1 that serves as the activating subunit of CDK5, which is involved in the regulation of neuronal differentiation. CDK5RAP2 therefo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Muscle
Cardiac muscle (also called heart muscle, myocardium, cardiomyocytes and cardiac myocytes) is one of three types of vertebrate muscle tissues, with the other two being skeletal muscle and smooth muscle. It is an involuntary, striated muscle that constitutes the main tissue of the wall of the heart. The cardiac muscle (myocardium) forms a thick middle layer between the outer layer of the heart wall (the pericardium) and the inner layer (the endocardium), with blood supplied via the coronary circulation. It is composed of individual cardiac muscle cells joined by intercalated discs, and encased by collagen fibers and other substances that form the extracellular matrix. Cardiac muscle contracts in a similar manner to skeletal muscle, although with some important differences. Electrical stimulation in the form of a cardiac action potential triggers the release of calcium from the cell's internal calcium store, the sarcoplasmic reticulum. The rise in calcium causes the cell's ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Placental Mammals
Placental mammals (infraclass Placentalia ) are one of the three extant subdivisions of the class Mammalia, the other two being Monotremata and Marsupialia. Placentalia contains the vast majority of extant mammals, which are partly distinguished from monotremes and marsupials in that the fetus is carried in the uterus of its mother to a relatively late stage of development. The name is something of a misnomer considering that marsupials also nourish their fetuses via a placenta, though for a relatively briefer period, giving birth to less developed young which are then nurtured for a period inside the mother's pouch. Anatomical features Placental mammals are anatomically distinguished from other mammals by: * a sufficiently wide opening at the bottom of the pelvis to allow the birth of a large baby relative to the size of the mother. * the absence of epipubic bones extending forward from the pelvis, which are found in all other mammals. (Their function in non-placental mammals ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF
The neuroblastoma breaking point family (''NBPF'') is a family of genes involved in neuronal development. The family is highly specific to primates, with minimal similarity or presence in other mammals and no presence in other animals, and its genes' content has been subject to a very high number of duplications in humans. It was described by Vandepoele ''et al.'' in 2005 and named as such because '' NBPF1'' was found to be broken by a chromosomal translocation in a neuroblastoma patient. The ''NBPF'' genes contain multiple copies of the Olduvai domain. A higher number of copies of this domain has been found to be correlated with brain size and autism severity, while a lower number of copies has been found to be correlated with schizophrenia severity. The only other gene known to have an Olduvai domain is myomegalin, which is believed to be the origin of the ''NBPF'' genes as it has orthologues in more basal mammals. Additionally, myomegalin is adjacent to many of the ''NBPF'' gene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Placental Mammals
Placental mammals (infraclass Placentalia ) are one of the three extant subdivisions of the class Mammalia, the other two being Monotremata and Marsupialia. Placentalia contains the vast majority of extant mammals, which are partly distinguished from monotremes and marsupials in that the fetus is carried in the uterus of its mother to a relatively late stage of development. The name is something of a misnomer considering that marsupials also nourish their fetuses via a placenta, though for a relatively briefer period, giving birth to less developed young which are then nurtured for a period inside the mother's pouch. Anatomical features Placental mammals are anatomically distinguished from other mammals by: * a sufficiently wide opening at the bottom of the pelvis to allow the birth of a large baby relative to the size of the mother. * the absence of epipubic bones extending forward from the pelvis, which are found in all other mammals. (Their function in non-placental mammals ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bony Fish
Osteichthyes (), popularly referred to as the bony fish, is a diverse superclass of fish that have skeletons primarily composed of bone tissue. They can be contrasted with the Chondrichthyes, which have skeletons primarily composed of cartilage. The vast majority of fish are members of Osteichthyes, which is an extremely diverse and abundant group consisting of 45 orders, and over 435 families and 28,000 species. It is the largest class of vertebrates in existence today. The group Osteichthyes is divided into the ray-finned fish ( Actinopterygii) and lobe-finned fish (Sarcopterygii). The oldest known fossils of bony fish are about 425 million years old, which are also transitional fossils, showing a tooth pattern that is in between the tooth rows of sharks and bony fishes. Osteichthyes can be compared to Euteleostomi. In paleontology the terms are synonymous. In ichthyology the difference is that Euteleostomi presents a cladistic view which includes the terrestrial tet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vertebrates
Vertebrates () comprise all animal taxa within the subphylum Vertebrata () ( chordates with backbones), including all mammals, birds, reptiles, amphibians, and fish. Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,963 species described. Vertebrates comprise such groups as the following: * jawless fish, which include hagfish and lampreys * jawed vertebrates, which include: ** cartilaginous fish (sharks, rays, and ratfish) ** bony vertebrates, which include: *** ray-fins (the majority of living bony fish) *** lobe-fins, which include: **** coelacanths and lungfish **** tetrapods (limbed vertebrates) Extant vertebrates range in size from the frog species ''Paedophryne amauensis'', at as little as , to the blue whale, at up to . Vertebrates make up less than five percent of all described animal species; the rest are invertebrates, which lack vertebral columns. The vertebrates traditionally include the hagfish, which do no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthologues
Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a speciation event (orthologs), or a duplication event (paralogs), or else a horizontal (or lateral) gene transfer event (xenologs). Homology among DNA, RNA, or proteins is typically inferred from their nucleotide or amino acid sequence similarity. Significant similarity is strong evidence that two sequences are related by evolutionary changes from a common ancestral sequence. Alignments of multiple sequences are used to indicate which regions of each sequence are homologous. Identity, similarity, and conservation The term "percent homology" is often used to mean "sequence similarity”, that is the percentage of identical residues (''percent identity''), or the percentage of residues conserved with similar physicochemical properties ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
