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SUPT5H
Transcription elongation factor SPT5 is a protein that in humans is encoded by the ''SUPT5H'' gene. Interactions SUPT5H has been shown to interact with: * CDK9, * Cyclin-dependent kinase 7, * HTATSF1, * PIN1, * POLR2A, * PRMT1 and * Protein arginine methyltransferase 5. Model organisms Model organisms have been used in the study of SUPT5H function. A conditional knockout mouse line called ''Supt5tm2a(KOMP)Wtsi'' was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ... to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping References Further reading * * * * * * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CDK9
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 resul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclin-dependent Kinase 7
Cyclin-dependent kinase 7, or cell division protein kinase 7, is an enzyme that in humans is encoded by the ''CDK7'' gene. The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. Clinical significance eg cancer Given that CDK7 is involved in two important regulation roles, it's expected that CDK7 regulation may play a role in cancerous cells. Cells from breast cancer tumors were found to have elevate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HTATSF1
HIV Tat-specific factor 1 is a protein that in humans is encoded by the ''HTATSF1'' gene. Function Whereas most DNA sequence-specific transcription factors increase the rate of initiation and interact with enhancer or promoter DNA, human immunodeficiency virus-1 (HIV-1) Tat predominantly stimulates elongation and interacts with the trans-acting responsive (TAR) RNA element. Tat is essential for HIV replication. HTATSF1 has also been shown to be involved in intron retention, and is associated with splicing of mRNAs that encode ribosomal proteins. It is also associated with a naïve pluripotent state, although the relationship is complex and is strongly affected by other pluripotency factors such as Nanog and KLF2. Interactions HTATSF1 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 i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PIN1
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 is an enzyme that in humans is encoded by the ''PIN1'' gene. Pin 1, or peptidyl-prolyl cis/trans isomerase (PPIase), isomerizes only phospho-Serine/Threonine-Proline motifs. The enzyme binds to a subset of proteins and thus plays a role as a post phosphorylation control in regulating protein function. Studies have shown that the deregulation of Pin1 may play a pivotal role in various diseases. Notably, the up-regulation of Pin1 is implicated in certain cancers, and the down-regulation of Pin1 is implicated in Alzheimer's disease. Inhibitors of Pin1 may have therapeutic implications for cancer and immune disorders. Discovery The gene encoding Pin1 was identified in 1996 as a result of a genetic/biochemical screen for proteins involved in mitotic regulation. It was found to be essential for cell division in some organisms. By 1999, however, it was apparent that Pin1 knockout mice had a surprisingly mild phenotype, indic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
POLR2A
DNA-directed RNA polymerase II subunit RPB1, also known as RPB1, is an enzyme that in humans is encoded by the ''POLR2A'' gene. Function This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA-binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. Interactions POLR2A has been shown to interact with: * BRCA1, * CREBBP, * CTDP1, * CDK8, * GTF2B, * GTF2F1, * GTF2H4, * MED21, * MED26, * PCAF, * POLR2C, * POLR2E, * POLR2H, * POLR2L, * PQBP1, * SMARCA2, * SMARCA4 * SMARCB1, * SMYD3, * SND1, * SUPT5H, * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PRMT1
Protein arginine N-methyltransferase 1 is an enzyme that in humans is encoded by the ''PRMT1'' gene. The HRMT1L2 gene encodes a protein arginine methyltransferase that functions as a histone methyltransferase specific for histone H4. Function PRMT1 gene encodes for the protein arginine methyltransferase that functions as a histone methyltransferase specific for histone H4 in eukaryotic cells. Specifically altering histone H4 in eukaryotes gives it the ability to remodel chromatin acting as a post-translational modifier. Through regulation of gene expression, arginine methyltransferases control the cell cycle and death of eukaryotic cells. Reaction pathway While all PRMT enzymes catalyze the methylation of arginine residues in proteins, PRMT1 is unique in that is catalyzes the formation of asymmetric dimethylarginine as opposed to the PRMT2 that catalyzes the formation of symmetrically dimethylated arginine. Individual PRMT utilize ''S''-adenosyl-L-methionine (SAM) as the m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein Arginine Methyltransferase 5
Protein arginine N-methyltransferase 5 is an enzyme that in humans is encoded by the ''PRMT5'' gene. PRMT5 symmetrically dimethylates H2AR3, H4R3, H3R2, and H3R8 in vivo, all of which are linked to a range of transcriptional regulatory events. PRMT5 is a highly conserved arginine methyltransferase that translocated from the cytoplasm to the nucleus at embryonic day ~E8.5, and during preimplantation development at the ~4-cell stage. Model organisms Model organisms have been used in the study of PRMT5 function. A conditional knockout mouse line, called ''Prmt5tm2a(EUCOMM)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on mutant mice and two significant abnormalities were observed. No homozy ... [...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] |
Dysmorphology
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in Dysmorphic feature, dysmorphology. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult (medical), insult. These may include growth retardation, delayed mental development or other congenital disorders without any structural malformations. Teratogens are substances that may cause birth defects via a toxic effect on an embryo or fetus. Known teratogens include: retinol, thalidomide, Mercury (element), mercury, Alcohol (drug), alcohol, lead, polychlorinated biphenyls (PCBs), and 2,3,7,8-tetrachlorodibenzodioxin. Etymology The term was borrowed in 1842 from the French , where it was formed in 1830 from the Greek language, Greek (word stem ), meaning "sign sent by the gods, portent, marv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radiography
Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnostic" and "therapeutic") and industrial radiography. Similar techniques are used in airport security (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and is projected toward the object. A certain amount of the X-rays or other radiation is absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a detector (either photographic film or a digital detector). The generation of flat two dimensional images by this technique is called projectional radiography. In computed tomography (CT scanning) an X-ray source and its associated detectors rotate around the su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dual-energy X-ray Absorptiometry
Dual-energy X-ray absorptiometry (DXA, or DEXA) is a means of measuring bone mineral density (BMD) using spectral imaging. Two X-ray beams, with different energy levels, are aimed at the patient's bones. When soft tissue absorption is subtracted out, the bone mineral density (BMD) can be determined from the absorption of each beam by bone. Dual-energy X-ray absorptiometry is the most widely used and most thoroughly studied bone density measurement technology. The DXA scan is typically used to diagnose and follow osteoporosis, as contrasted to the nuclear bone scan, which is sensitive to certain metabolic diseases of bones in which bones are attempting to heal from infections, fractures, or tumors. It is also sometimes used to assess body composition. Physics Soft tissue and bone have different attenuation coefficients to X-rays. A single X-ray beam passing through the body will be attenuated by both soft tissue and bone, and it is not possible to determine, from a single beam, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Auditory Brainstem Response
The auditory brainstem response (ABR), also called brainstem evoked response audiometry (BERA), is an auditory evoked potential extracted from ongoing electrical activity in the brain and recorded via electrodes placed on the scalp. The measured recording is a series of six to seven vertex positive waves of which I through V are evaluated. These waves, labeled with Roman numerals in ''Jewett'' and ''Williston'' convention, occur in the first 10 milliseconds after onset of an auditory stimulus. The ABR is considered an ''exogenous response'' because it is dependent upon external factors. The auditory structures that generate the auditory brainstem response are believed to be as follows: *Wave I through III – generated by the auditory branch of cranial nerve VIII and lower *Wave IV and V – generated by the upper brainstem *More in depth location – wave I and II originates from the distal and proximal auditory nerve fibers, wave III from the cochlear nucleus, IV showing acti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
