αPIX
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αPIX
Rho guanine nucleotide exchange factor 6 is a protein that, in humans, is encoded by the ''ARHGEF6'' gene. ARHGEF6 is commonly known as the p21-activated protein kinase exchange factor alpha (alpha-PIX or αPIX), because it was identified by binding to p21-activated kinases , p21-activated kinase (PAK) and also contains a guanine nucleotide exchange factor protein domain , domain. Domains and functions αPIX is a multidomain protein that functions both as a cell signaling , signaling scaffold protein and as an enzyme. αPIX shares this domain structure and signaling function with the highly similar ARHGEF7 , ARHGEF7/βPIX protein. αPIX contains a central RhoGEF domain , DH/PH RhoGEF domain that functions as a guanine nucleotide exchange factor , guanine nucleotide exchange factor (GEF) for small GTPases of the Rho family, and specifically Rac (GTPase) , Rac and Cdc42. Like other GEFs, αPIX can promote both release of guanosine diphosphate , GDP from an inactive small GTP-bind ...
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ARHGEF7
Rho guanine nucleotide exchange factor 7 is a protein that in humans is encoded by the ''ARHGEF7'' gene. ARHGEF7 is commonly known as the p21-activated protein kinase exchange factor beta (beta-PIX or βPIX), because it was identified by binding to p21-activated kinases , p21-activated kinase (PAK) and also contains a guanine nucleotide exchange factor protein domain , domain. Domains and functions βPIX is a multidomain protein that functions both as a cell signaling , signaling scaffold protein and as an enzyme. βPIX shares this domain structure and signaling function with the highly similar ARHGEF6 , ARHGEF6/αPIX protein. βPIX undergoes extensive alternative splicing to generate multiple variant proteins containing or lacking particular protein domains. Adult forms all lack the amino terminal CH domain, and the two major adult variants have alternate carboxyl terminal region (termed β1 and β2): β1 forms contain the coiled-coil trimerization domain and the PDZ-target m ...
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Rho Family
The Rho family of GTPases is a family of small (~21 kDa) signaling G proteins, and is a subfamily of the Ras superfamily. The members of the Rho GTPase family have been shown to regulate many aspects of intracellular actin dynamics, and are found in all eukaryotic kingdoms, including yeasts and some plants. Three members of the family have been studied in detail: Cdc42, Rac1, and RhoA. All G proteins are "molecular switches", and Rho proteins play a role in organelle development, cytoskeletal dynamics, cell movement, and other common cellular functions. History Identification of the Rho family of GTPases began in the mid-1980s. The first identified Rho member was RhoA, isolated serendipitously in 1985 from a low stringency cDNA screening. Rac1 and Rac2 were identified next, in 1989 followed by Cdc42 in 1990. Eight additional mammalian Rho members were identified from biological screenings until the late 1990s, a turning point in biology where availability of complete genome sequenc ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 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 pep ...
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PAK1
Serine/threonine-protein kinase PAK 1 is an enzyme that in humans is encoded by the ''PAK1'' gene. PAK1 is one of six members of the PAK family of serine/threonine kinases which are broadly divided into group I (PAK1, PAK2 and PAK3) and group II (PAK4, PAK6 and PAK5/7). The PAKs are evolutionarily conserved. PAK1 localizes in distinct sub-cellular domains in the cytoplasm and nucleus. PAK1 regulates cytoskeleton remodeling, phenotypic signaling and gene expression, and affects a wide variety of cellular processes such as directional motility, invasion, metastasis, growth, cell cycle progression, angiogenesis. PAK1-signaling dependent cellular functions regulate both physiologic and disease processes, including cancer, as PAK1 is widely overexpressed and hyperstimulated in human cancer, at-large. Discovery PAK1 was first discovered as an effector of the Rho GTPases in rat brain by Manser and colleagues in 1994. The human PAK1 was identified as a GTP-dependent interacting partner ...
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Synapse
In the nervous system, a synapse is a structure that allows a neuron (or nerve cell) to pass an electrical or chemical signal to another neuron or a target effector cell. Synapses can be classified as either chemical or electrical, depending on the mechanism of signal transmission between neurons. In the case of electrical synapses, neurons are coupled bidirectionally with each other through gap junctions and have a connected cytoplasmic milieu. These types of synapses are known to produce synchronous network activity in the brain, but can also result in complicated, chaotic network level dynamics. Therefore, signal directionality cannot always be defined across electrical synapses. Chemical synapses, on the other hand, communicate through neurotransmitters released from the presynaptic neuron into the synaptic cleft. Upon release, these neurotransmitters bind to specific receptors on the postsynaptic membrane, inducing an electrical or chemical response in the target neuron ...
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Neuron
A neuron (American English), neurone (British English), or nerve cell, is an excitable cell that fires electric signals called action potentials across a neural network in the nervous system. They are located in the nervous system and help to receive and conduct impulses. Neurons communicate with other cells via synapses, which are specialized connections that commonly use minute amounts of chemical neurotransmitters to pass the electric signal from the presynaptic neuron to the target cell through the synaptic gap. Neurons are the main components of nervous tissue in all animals except sponges and placozoans. Plants and fungi do not have nerve cells. Molecular evidence suggests that the ability to generate electric signals first appeared in evolution some 700 to 800 million years ago, during the Tonian period. Predecessors of neurons were the peptidergic secretory cells. They eventually gained new gene modules which enabled cells to create post-synaptic scaffolds and ion chann ...
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X-linked Intellectual Disability
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms. Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the syndromic form of the condition. X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males. Syndromes Several X-linked syndromes include intellectual disability as part of the presentation. These include: * Coffin–Lowry syndrome * DDX3X syndrome * MASA syndrome * MECP2 duplicatio ...
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X Chromosome
The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. Discovery It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of '' Pyrrhocoris'' and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining (''chroma'' in Greek means ''color''). Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of the object and consequently named it ''X element'', which later became X chromosome after it was established that it w ...
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PARVB
Beta-parvin is a protein that in humans is encoded by the ''PARVB'' gene. Members of the parvin family, including PARVB, PARVA Alpha-parvin is a protein that in humans is encoded by the ''PARVA'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcrib ... and PARVG, are actin-binding proteins associated with focal contacts. upplied by OMIMref name="entrez"> References Further reading

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Calponin Homology (CH) Domain
Calponin homology domain (or CH domain) is a family of actin binding domains found in both cytoskeletal proteins and signal transduction proteins. The domain is about 100 amino acids in length and is composed of four alpha helices. It comprises the following groups of actin-binding domains: * Actinin-type (including spectrin, fimbrin, ABP-280) * Calponin-type A comprehensive review of proteins containing this type of actin-binding domains is given in. The CH domain is involved in actin binding in some members of the family. However, in calponins there is evidence that the CH domain is not involved in its actin binding activity. Most proteins have two copies of the CH domain, however some proteins such as calponin and the human vav proto-oncogene () have only a single copy. The structure of an example CH domain has been determined using X-ray crystallography. Examples Human genes encoding calponin homology domain-containing proteins include: * ACTN1, ACTN2, ACTN3, ACTN4, ...
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