• mRNA
  • Through RNA splicing mechanisms, mRNA has the ability to select different protein-coding segments (exons) of a gene, or even different parts of exons from RNA to form different mRNA sequences. (wikipedia.org)
  • All these proteins are different both in structure and composition and this process is regulated by alternative splicing of mRNA and have a large impact in proteome diversity. (wikipedia.org)
  • There are three main components of a common alternative splicing mechanism: cis-acting regulatory sequences RNA-binding protein splicing factors RNA-RNA base pairing In short, during the transcription process, mRNA may include (enhance) or exclude (silent) one or multiple exons of a gene. (wikipedia.org)
  • Reduced mRNA and protein expression of the genomic caretaker RAD9A in primary fibroblasts of individuals with childhood and independent second cancer. (nih.gov)
  • There are six other mRNA isoforms produced by alternative splicing and variation in exon length. (wikipedia.org)
  • cDNA
  • EFS (Embryonal Fyn-associated Substrate), also known as SIN (Src INteracting or Signal Integrating protein) was originally identified using cDNA library screening of mouse embryonal libraries for proteins containing SH3-interacting domains, or interacting with the SRC SH3 domain, in two independent studies by Ishino et al. (wikipedia.org)
  • skeletal muscle
  • In the present study, we compare functional consequences of dissociation and reconstitution of binding proteins FKBP12 and FKBP12.6 with ryanodine receptors from cardiac (RyR2) and skeletal muscle (RyR1). (lu.se)
  • Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms which have been identified. (wikipedia.org)
  • exons
  • The ALOX5 gene, which occupies 71.9 kilobase pairs (kb) on chromosome 10 (all other human lipoxygenases are clustered together on chromosome 17), is composed of 14 exons divided by 13 introns encoding the mature 78 kilodalton (kD) ALOX5 protein consisting of 673 amino acids. (wikipedia.org)
  • and isoform 3, containing 6 exons and encoding the shortest protein (392 amino acids). (wikipedia.org)
  • sequences
  • Select one or more mouse PIRSF members to download protein sequences or forward to NCBI BLAST. (jax.org)
  • You can select a given mouse superfamily member and download (or forward to NCBI BLAST) FASTA formatted protein sequences of that mouse gene and its mouse, human and rat homologs, as defined in the corresponding HomoloGene Class. (jax.org)
  • You can also "Select all" mouse superfamily members to obtain their protein sequences and the protein sequences for all mouse, human and rat homologs of the mouse superfamily members. (jax.org)
  • The tool works with standard single letter nucleotide or protein codes including ambiguities and can match Prosite patterns in protein sequences. (nih.gov)
  • CCAAT
  • Little is known about the transcriptional regulation of EFS, but several transcriptional regulators for EFS have been proposed based on consensus binding sites in its promoter region for ATF (Activating transcription factor), NF-κβ, NF-κβ1, GATA-3, C/EBPα (CCAAT/enhancer-binding protein alpha), glucocorticoid receptors α and β, and p53. (wikipedia.org)
  • phosphorylation
  • To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. (wikipedia.org)
  • functional
  • Our studies reveal important differences between the two ryanodine receptor isoforms with respect to their functional interaction with FKBP12 and FKBP12.6. (lu.se)
  • So the location of the TSS is important for understanding the biogenesis of specific isoforms.The idea that different binding partners confer different functional properties has been well studied in tissue-specific gene regulation. (wikipedia.org)
  • Isoforms harboring changes in the CDS have been the most thoroughly characterized because they commonly give rise to proteins with different functional properties. (wikipedia.org)
  • kinase
  • Creatine kinase, the presence of which in the blood can be used as an aid in the diagnosis of myocardial infarction, exists in 3 isoforms. (wikipedia.org)
  • This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. (abcam.com)
  • ATP is crucial for ALOX5's metabolic activity A proline-rich region (residues 566-577), sometimes termed a SH3-binding domain, which promotes its binding to proteins with SH3 domains such as Grb2 and may thereby link the enzyme's regulation to tyrosine kinase receptors. (wikipedia.org)
  • Plakophilin is necessary for normal localization and content of desmoplakin to desmosomes, which may in part be due the recruitment of protein kinase C alpha to desmoplakin. (wikipedia.org)
  • expression
  • Changes in the expression level or regulatory dysfunctions of isoforms often lead to developmental or pathological disorders. (wiley.com)
  • One key transcription factor that activates skeletal actin gene expression is Serum Response Factor ("SRF"), a protein that binds to specific sites on the promoter DNA of the actin gene. (wikipedia.org)
  • SRF may bring a number of other proteins to the promoter of skeletal actin, such as andogen receptor, and thereby contribute to induction of skeletal actin gene expression by androgenic (often termed "anabolic") steroids. (wikipedia.org)
  • Expression of isoforms 1 and 2 has been detected in multiple tissues, with maximal expression in the placenta, and the embryonal central nervous system, heart, testes and lungs. (wikipedia.org)
  • Decreased expression of plakophilin-2 via siRNA leads to a decrease in and redistribution of connexin 43 protein, as well as a decrease in coupling of adjacent cardiomyocytes. (wikipedia.org)
  • inhibit
  • They also appear to inhibit protein adsorption to the capillary wall, making the isoform separations highly reproducible both in peak areas and apparent mobility. (wiley.com)
  • molecular
  • Alternative splicing is a post-transcriptional modification process which is the major molecular mechanism that contributes to the protein diversity. (wikipedia.org)
  • To further understand the novel form of LHX3-associated disease involving loss of the protein carboxyl terminus, gene targeting techniques will be used to generate a mouse model of the disease carrying an equivalent mutation, allowing molecular and cellular characterization of the disease symptoms and progression, an approach that is not possible in the patients. (grantome.com)
  • The protein has a molecular mass of 32,142 Daltons. (wikipedia.org)
  • Human ALOX5 is a soluble, monomeric protein consisting of 673 amino acids with a molecular weight of ~78 kDa. (wikipedia.org)
  • downstream
  • Panel (b) shows a truncated isoform of the human CLK3 gene which was found to initiate at an AUG codon downstream of the annotated AUG start codon (Reprinted with permission from Ref 12. (nih.gov)
  • As discussed in the section Ribosome Profiling of Initiating Ribosomes, initiation at alternative sites both upstream and downstream of the annotated protein coding ORFs is pervasive. (nih.gov)
  • Figure 10b shows a truncated isoform of the human CLK3 gene which Lee et al.12 found to initiate at an AUG codon downstream of the annotated AUG start codon. (nih.gov)
  • Fritsch et al.13 also reported 546 N-terminal protein extensions in human (regions downstream of annotated starts were not analyzed). (nih.gov)
  • It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. (abcam.com)
  • facilitates
  • The checkpoint clamp protein Rad9 facilitates DNA-end resection and prevents alternative non-homologous end joining. (nih.gov)
  • receptors
  • FCH and Double SH3 Domains 2 (FCHSD2) - Function has not yet been defined Heat Shock Protein Family B Member 1 (HSPB1) - Aids cell's resistance to stress SH3 Domain Binding Protein 4 (SH3BP4) - Involved in endocytosis of specific cell surface receptors The function of C2orf73 is currently not well understood by the scientific community or anyone else. (wikipedia.org)
  • suitable
  • Figure 3 illustrates why ribosome profiling of initiating ribosomes is particularly suitable for the detection of alternative protein isoforms (extensions and truncations of annotated CDS). (nih.gov)
  • superfamily
  • UDP-glucuronosyltransferase, an enzyme superfamily responsible for the detoxification pathway of many drugs, environmental pollutants, and toxic endogenous compounds has 16 known isoforms encoded in the human genome. (wikipedia.org)
  • MGI protein superfamily detail pages represent the protein classification set for a homeomorphic superfamily from the Protein Information Resource SuperFamily ( PIRSF ) site. (jax.org)
  • distinct
  • We have, however, recently determined that mutations affecting distinct parts of the LHX3 protein are correlated with specific disease outcomes: mutations only compromising the carboxyl terminus are associated with a more restricted disease involving pituitary hormone deficiency but not nervous system problems. (grantome.com)
  • Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. (wikipedia.org)
  • mechanism
  • The mechanism of LHX3-mediated transcription will be investigated by characterizing a protein complex that interacts with the carboxyl terminal domains of LHX3 that are required for pituitary gene regulation. (grantome.com)
  • cleavage
  • It was found that the spliceosome, a large ribonucleoprotein, is the place where the RNA cleavage and ligation proceeds for the removal of non protein coding segments or introns. (wikipedia.org)
  • annotation
  • p>An evidence describes the source of an annotation, e.g. an experiment that has been published in the scientific literature, an orthologous protein, a record from another database, etc. (uniprot.org)
  • interaction
  • This interaction at the cytoplasmic membrane is crucial to the function of this protein, which may be involved in neuronal growth-cone guidance. (abcam.com)