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Lis1
Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in humans is encoded by the ''PAFAH1B1'' gene. The protein is often referred to as Lis1 and plays an important role in regulating the motor protein Dynein. Function PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller–Dieker syndrome. PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acetylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. According to one study, PAFAH1B1 interacts with VLDLR re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Reelin
Reelin, encoded by the ''RELN'' gene, is a large secreted extracellular matrix glycoprotein that helps regulate processes of neuronal migration and positioning in the developing brain by controlling cell–cell interactions. Besides this important role in early development, reelin continues to work in the adult brain. It modulates synaptic plasticity by enhancing the induction and maintenance of long-term potentiation. It also stimulates dendrite and dendritic spine development and regulates the continuing migration of neuroblasts generated in adult neurogenesis sites like the subventricular and subgranular zones. It is found not only in the brain but also in the liver, thyroid gland, adrenal gland, Fallopian tube, breast and in comparatively lower levels across a range of anatomical regions. Reelin has been suggested to be implicated in pathogenesis of several brain diseases. The expression of the protein has been found to be significantly lower in schizophrenia and psycho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NUDC
Nuclear migration protein nudC is a protein that in humans is encoded by the ''NUDC'' gene. Interactions NUDC has been shown to interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ... with PLK1 and PAFAH1B1. References Further reading * * * * * * * * * * * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TUBA1A
Tubulin alpha-1A chain is a protein that in humans is encoded by the ''TUBA1A'' gene. Background Tubulin alpha-1A chain is an alpha-tubulin that participates in the formation of microtubules - structural proteins that participate in cytoskeletal structure. Specifically, microtubules are composed of a heterodimer of alpha and beta-tubulin molecules. Cowan et al. demonstrated that bα1 is a primary α-tubulin of the human fetal brain, and that it is expressed solely in that structure, by way of Northern blot. Miller et al. further elaborated on the role of α-tubulins and the process of neuronal development and maturation, comparing the expressions of rat α-tubulins Tα1 and T26. These two rat α-tubulins are homologs of bα1 and kα1 showing that a rat homolog of human TUBA1A (Tα1) had elevated expression during the extension of neuronal processes. Culturing of pheochromocytoma cells with Nerve Growth Factor (NGF) induced differentiation and the development of neuronal processes. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NDEL1
Nuclear distribution protein nudE-like 1 is a protein that in humans is encoded by the ''NDEL1'' gene. This gene encodes a thiol-activated oligopeptidase that is phosphorylated in M phase of the cell cycle. Phosphorylation regulates the cell cycle-dependent distribution of this protein, with a fraction of the protein bound strongly to centrosomes in interphase and localized to mitotic spindles in early M phase. Overall, this protein plays a role in nervous system development. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. Interactions NDEL1 has been shown to interact with Cyclin-dependent kinase 5, YWHAE 14-3-3 protein epsilon is a protein that in humans is encoded by the ''YWHAE'' gene. Function This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This h ..., PAFAH1B1 and DISC1. References Further reading * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein–protein Interaction
Protein–protein interactions (PPIs) are physical contacts of high specificity established between two or more protein molecules as a result of biochemical events steered by interactions that include electrostatic forces, hydrogen bonding and the hydrophobic effect. Many are physical contacts with molecular associations between chains that occur in a cell or in a living organism in a specific biomolecular context. Proteins rarely act alone as their functions tend to be regulated. Many molecular processes within a cell are carried out by molecular machines that are built from numerous protein components organized by their PPIs. These physiological interactions make up the so-called interactomics of the organism, while aberrant PPIs are the basis of multiple aggregation-related diseases, such as Creutzfeldt–Jakob and Alzheimer's diseases. PPIs have been studied with many methods and from different perspectives: biochemistry, quantum chemistry, molecular dynamics, signal tr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PAFAH1B2
Platelet-activating factor acetylhydrolase IB subunit beta is an enzyme that in humans is encoded by the ''PAFAH1B2'' gene. Interactions PAFAH1B2 has been shown to interact with PAFAH1B1. See also * PAFAH1B1 * PAFAH1B3 References Further reading * * * * * * * * {{gene-11-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PAFAH1B3
Platelet-activating factor acetylhydrolase IB subunit gamma is an enzyme that in humans is encoded by the ''PAFAH1B3'' gene. Interactions PAFAH1B3 has been shown to interact with PAFAH1B1 and LNX1. See also * PAFAH1B1 * PAFAH1B2 Platelet-activating factor acetylhydrolase IB subunit beta is an enzyme that in humans is encoded by the ''PAFAH1B2'' gene. Interactions PAFAH1B2 has been shown to interact with PAFAH1B1. See also * PAFAH1B1 * PAFAH1B3 References ... References Further reading * * * * * * * {{gene-19-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NDE1
Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the ''NDE1'' gene. Clinical significance Mutations In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosi ... in both copies of NDE1 cause microlissencephaly type 4. References Further reading * * * * * * * * * * * * * * * Human proteins {{gene-16-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CLIP1
CAP-GLY domain containing linker protein 1, also known as CLIP1, is a protein which in humans is encoded by the ''CLIP1'' gene. Interactions CLIP1 has been shown to interact with IQGAP1, Mammalian target of rapamycin and PAFAH1B1 Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in humans is encoded by the ''PAFAH1B1'' gene. The protein is often referred to as Lis1 and plays an important role in regulating the motor protein Dynein. Function .... References External links * Further reading * * * * * * * * * * * * * * * * * * {{gene-12-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DYNC1H1
Cytoplasmic dynein 1 heavy chain 1 is a protein that in humans is encoded by the ''DYNC1H1'' gene. Interactions DYNC1H1 has been shown to interact with PAFAH1B1 and CDC5L. Clinical relevance Mutations in this gene have been shown to cause dominant axonal Charcot-Marie-Tooth disease as well as spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated wit ... (SMA-LED1). References Further reading * * * * * * * * * * * * * * * * * * External links * {{gene-14-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme, pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are Ribozyme, catalytic RNA molecules, called ribozymes. Enzymes' Chemical specificity, specific ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
