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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 Protein-protein interaction, 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 (SMA-LED1). References Further reading * * * * * * * * * * * * * * * * * * External links * {{gene-14-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 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 rec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDC5L
Cell division cycle 5-like protein is a protein that in humans is encoded by the ''CDC5L'' gene. Function The protein encoded by this gene shares a significant similarity with ''Schizosaccharomyces pombe'' cdc5 gene product, which is a cell cycle regulator important for G2/ M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. Interactions CDC5L has been shown to interact with: * ASF/SF2, * BZW1, * CWC15, * DNA-PKcs, * DYNC1H1, * GCN1L1, * HSPA8, * ILF2, * PLRG1, * PPM1D, * PPP1CA, * PRPF19, * RBMX and * RPL12, * RPL13, * RPS16, * RPS25, * SF3A1, * SF3B1, * SF3B2, * SF3B4, * SFPQ, * SFRS2, * SNRPA1, * SNRPD3, * SRRM1, * Small nuclear ribonucleoprotein D1, * Small nuclear ribonucleoprotein D2, ... [...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] |
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 gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
