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Poison Exon
Poison exons (PEs); also called premature termination codon (PTC) exons or nonsense-mediated decay (NMD) exons] are a class of Alternative splicing#Modes, cassette exons that contain PTCs. Inclusion of a PE in a transcript targets the transcript for degradation via NMD. PEs are generally highly conserved elements of the genome and are thought to have important regulatory roles in biology. Targeting PE inclusion or exclusion in certain transcripts is being evaluated as a therapeutic strategy. Discovery In 2002, a model termed regulated unproductive splicing and translation (RUST) was proposed based on the finding that many (~one-third) alternatively spliced transcripts contain PEs. In this model, coupling alternative splicing to NMD (AS-NMD) is thought to tune transcript levels to regulate protein expression. Alternative splicing may also lead to NMD via other pathways besides PE inclusion, e.g., intron retention. PEs were initially characterized in RNA-binding proteins from ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclin-dependent Kinase 9
Cyclin-dependent kinase 9 or CDK9 is a cyclin-dependent kinase associated with P-TEFb. Function The protein encoded by this gene is a member of the cyclin-dependent kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. CDK9 is also known to associate with other proteins such as TRAF2, and be involved in differentiation of skeletal muscle. Inhibitors Based on molecular docking res ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SF3B1
Splicing factor 3B subunit 1 is a protein that in humans is encoded by the ''SF3B1'' gene. Function This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and U2 spliceosomal RNA, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. Interactions SF3B1 has been shown to interact with: * CDC5L, * DDX42, * PPP1R8, * SF3B2, * SF3B3, * SF3B6, Clinical relevance Mutations in this gene have been recurrently seen in cases of advanced chronic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fanconi Anemia
Fanconi anemia (FA) is a rare, autosomal recessive genetic disease characterized by aplastic anemia, congenital defects, endocrinological abnormalities, and an increased incidence of developing cancer. The study of Fanconi anemia has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and liver cancer. 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. 60% of FA is FANC-A, 16q24.3, which has later onset bone marrow failure. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homolog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FANCA
Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the ''FANCA'' gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells. Mutations involving the FANCA gene are associated with many somatic and congenital defects, primarily involving phenotypic variations of Fanconi anaemia, aplastic anaemia, and forms of cancer such as squamous cell carcinoma and acute myeloid leukaemia. Function The Fanconi anaemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FA ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CCAR1
Cell division cycle and apoptosis regulator protein 1 is a protein that in humans is encoded by the ''CCAR1'' 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 transcribed to produce a functional RNA. There are two types of molecular genes: protei .... References External links * Further reading * * * * * * * * * * {{gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Post-translational Modification
In molecular biology, post-translational modification (PTM) is the covalent process of changing proteins following protein biosynthesis. PTMs may involve enzymes or occur spontaneously. Proteins are created by ribosomes, which translation (biology), translate mRNA into polypeptide chains, which may then change to form the mature protein product. PTMs are important components in cell signal transduction, signalling, as for example when prohormones are converted to hormones. Post-translational modifications can occur on the amino acid side chains or at the protein's C-terminus, C- or N-terminus, N- termini. They can expand the chemical set of the 22 proteinogenic amino acid, amino acids by changing an existing functional group or adding a new one such as phosphate. Phosphorylation is highly effective for controlling the enzyme activity and is the most common change after translation. Many eukaryotic and prokaryotic proteins also have carbohydrate molecules attached to them in a pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
O-GlcNAc
''O''-GlcNAc (short for ''O''-linked GlcNAc or ''O''-linked β-''N''-acetylglucosamine) is a reversible Enzyme, enzymatic post-translational modification that is found on serine and threonine residues of Cell nucleus, nucleoCytoplasm, cytoplasmic proteins. The modification is characterized by a Glycosidic bond, β-glycosidic bond between the Hydroxy group, hydroxyl group of serine or threonine side chains and N-Acetylglucosamine, ''N''-acetylglucosamine (GlcNAc). ''O''-GlcNAc differs from other forms of protein glycosylation: (i) ''O''-GlcNAc is not elongated or modified to form more complex glycan structures, (ii) ''O''-GlcNAc is almost exclusively found on nuclear and cytoplasmic proteins rather than membrane proteins and secretory proteins, and (iii) ''O''-GlcNAc is a highly dynamic modification that turns over more rapidly than the proteins which it modifies. ''O''-GlcNAc is conserved across Animal, metazoans. Due to the dynamic nature of ''O''-GlcNAc and its presence on seri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein O-GlcNAc Transferase
Protein ''O''-GlcNAc transferase also known as OGT or O-linked N-acetylglucosaminyltransferase is an enzyme () that in humans is encoded by the ''OGT'' gene. OGT catalyzes the addition of the ''O''-GlcNAc post-translational modification to proteins. Nomenclature Other names include: *''O''-GlcNAc transferase * OGTase *''O''-linked ''N''-acetylglucosaminyltransferase * Uridine diphospho-''N''-acetylglucosamine:polypeptide β-''N''-acetylglucosaminyltransferase Systematic name: UDP-''N''-α-acetyl--glucosamine: rotein3-''O''-''N''-acetyl-β--glucosaminyl transferase Function Glycosyltransferase OGT catalyzes the addition of a single ''N''-acetylglucosamine through an ''O''-glycosidic linkage to serine or threonine and an ''S''-glycosidic linkage to cysteine residues of nucleocytoplasmic proteins. Since both phosphorylation and ''O''-GlcNAcylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pilocarpine
Pilocarpine, sold under the brand name Pilopine HS among others, is a lactone alkaloid originally extracted from plants of the Pilocarpus genus. It is used as a medication to reduce pressure inside the eye and treat dry mouth. As an eye drop it is used to manage angle closure glaucoma until surgery can be performed, ocular hypertension, primary open angle glaucoma, and to constrict the pupil after dilation. However, due to its side effects, it is no longer typically used for long-term management. Onset of effects with the drops is typically within an hour and lasts for up to a day. By mouth it is used for dry mouth as a result of Sjögren syndrome or radiation therapy. Common side effects of the eye drops include irritation of the eye, increased tearing, headache, and blurry vision. Other side effects include allergic reactions and retinal detachment. Use is generally not recommended during pregnancy. Pilocarpine is in the miotics family of medication. It works by activ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NOVA1
RNA-binding protein Nova-1 is a protein that in humans is encoded by the ''NOVA1'' gene. This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. Both Neanderthals and Denisovans had one version and nearly all modern humans had another suggesting positive selection. Insertion of Neanderthal gene variant of the neuro-oncological ventral antigen 1 (NOVA1) gene into human cortical organoids might promote slower development and higher surface complexity in the brain models, but this may be an artefact of a CRISPR CRISPR (; acronym of clustered regularly interspaced short palindromic repeats) is a family of DNA sequences found in the genomes of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HNRPH1
Heterogeneous nuclear ribonucleoprotein H is a protein that in humans is encoded by the ''HNRNPH1'' gene. This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins ( hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA ( hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties; The protein encoded by this gene has three repeats of quasi- RRM domains that bind to RNAs, making it very similar to the family member HNRPF in that regard. This gene is thought to be potentially involved in hereditary lymphedema type I phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an orga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
