• LIM homeobox transcription factor 1, alpha, also known as LMX1A, is a protein which in humans is encoded by the LMX1A gene. (wikipedia.org)
  • Protein interactions of homeodomain proteins. (embl.de)
  • The recent structural determinations and biochemical analysis of several multimeric complexes have provided a better understanding of how protein interactions influence the DNA-binding activity of homeodomain proteins. (embl.de)
  • These features suggest the molecular basis of disease-causing mutations in Pit-1 and provide potential basis for the flexible allostery between protein domains and DNA sites in the activation of target genes. (rcsb.org)
  • 1991). The maize Kn1 gene was found to encode a homeodomain-containing protein, the first identified in the plant kingdom. (grassius.org)
  • RB1 encodes the protein pRB and was the first tumor suppressor gene to be molecularly defined. (medscape.com)
  • Antennapedia homeodomain protein. (lookformedical.com)
  • Antennapedia homeodomain protein is a homeobox protein involved in limb patterning in ARTHROPODS. (lookformedical.com)
  • Mutations in the gene for the antennapedia homeodomain protein are associated with the conversion of antenna to leg or leg to antenna DROSOPHILA. (lookformedical.com)
  • In a genetic screen for suppressors of Arabidopsis (Arabidopsis thaliana) accelerated cell death 6-1 (acd6-1), a small constitutive defense mutant whose defense level is grossly in a reverse proportion to plant size, we identified an allele of the canonical flowering regulatory gene FLOWERING LOCUS K HOMOLOGY DOMAIN (FLK) encoding a putative protein with triple K homology (KH) repeats. (nsf.gov)
  • Further mapping studies of the domains within Tat and Antp responsible for the observed transduction led to the identification of the first two CPPS: the 11 amino acid cationic, arginine- and lysine-rich domain of Tat protein (YGRKKRRQRRR) [ 4 ] and the 16 amino acid sequence from the third helix of the Antennapedia domain (RQIKIWFQNRRMKWKK) termed Antp, also known as penetratin [ 5 ] . (encyclopedia.pub)
  • [ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
  • Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
  • For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
  • The Engrailed homeodomain protein is an 'active' or dominant transcriptional repressor in cultured cells. (biologists.com)
  • In contrast, the Fushi Tarazu homeodomain protein is an activator, both in cultured cells and in Drosophila embryos, where it activates several known target genes, including its own gene. (biologists.com)
  • What does this gene/protein do? (cancerindex.org)
  • HD-Zip protein usually contain two highly conserved domains: homeodomain (HD) and leucine zipper (LZ) [ 1 ]. (biomedcentral.com)
  • A homeobox (HB) encodes a protein domain, the homeodomain (HD), which is a conserved 60-amino acid motif present in transcription factors found in all the eukaryotic organisms. (gao-lab.org)
  • Maternal genes involved in dorsoventral (D/V) patterning of the Drosophila embryo interact to establish a stable nuclear concentration gradient of the Dorsal protein which acts as the morphogen along this axis. (silverchair.com)
  • This protein belongs to the rel proto-oncogene and NF-KB transcriptional factor family and acts by controlling zygotic gene expression. (silverchair.com)
  • A homeodomain protein that interacts with TATA-BOX BINDING PROTEIN. (bvsalud.org)
  • HD binding specificity increases by protein-protein interactions with a diversity of cofactors that outline the Hox interactome and determine the transcriptional landscape of the selected target genes. (biomedcentral.com)
  • This plethora of Hox protein-protein interactions clearly points to a Hox-driven transcription process in which every Hox homeoprotein could selectively recruit GTFs to achieve specificity and activate or repress target genes during Drosophila development, although the precise molecular mechanisms remain elusive [ 25 ]. (biomedcentral.com)
  • Description of the protein which includes the UniProt Function and the NCBI Gene Summary. (nih.gov)
  • The Enhancer of split complex (E[spl]-C) includes eight genes spread over 50 kilo bases on the Drosophila third chromosome. (sdbonline.org)
  • Other examples of Drosophila gene complexes include the Antennapedia complex (ANTP-C), the bithorax complex (BX-C) and the achaete-scute complex (AS-C). The hallmark of all these gene complexes, including the E(spl)-C is that within any complex the genes are evolutionarily related and jointly regulated. (sdbonline.org)
  • In Drosophila, the majority of Notch target genes known so far is located in the Enhancer of split complex , encoding small basic helix-loop-helix (bHLH) proteins that presumably act as transcriptional repressors. (sdbonline.org)
  • The structures of the Drosophila Paired homodimer and the yeast a1/alpha2 heterodimer bound to DNA, along with a high-resolution study of a Drosophila eve-DNA complex, have deepened our understanding of how homeodomains locate their DNA targets. (embl.de)
  • No apparent role for the Wari insulator in transcriptional regulation of the endogenous white gene of Drosophila melanogaster. (unibas.ch)
  • The fraction of transcription factor genes among all genes is slightly higher in Arabidopsis (5.9%) compared with Drosophila , C. elegans and yeast (4.5, 3.5 and 3.5%, respectively). (biomedcentral.com)
  • Genetic analysis of early development in the Drosophila embryo has revealed that embryonic pattern formation depends on both maternal and zygotic genes. (silverchair.com)
  • The HTH motif is characterised by two alpha-helices, which make intimate contacts with the DNA and are joined by a short turn. (embl.de)
  • The N-terminal domain makes extensive DNA contacts, using a novel beta turn motif that binds in the minor groove and a helix-turn-helix unit with a docking arrangement surprisingly similar to that of the lambda repressor. (embl.de)
  • Both subdomains contain the structural motif 'helix-turn-helix', which directly associates with the two components of bipartite DNA binding sites, and both are required for high affinity sequence-specific DNA-binding. (embl.de)
  • These domains exhibit superimposable helix-turn-helix (HTH) motifs, except that in the POUs domain, the first helix and the linker to the second helix of the motif are extended. (embl.de)
  • The solution structure of the Oct-1 POUs domain has been determined by multidimensional nuclear magnetic resonance spectroscopy and consists of four alpha helices surrounding a conserved hydrophobic core. (embl.de)
  • The homeodomain domain is generally composed of about 60 amino acids encoded homeobox, which form three alpha helices. (biomedcentral.com)
  • Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)
  • Within the Arabidopsis genome, 1,533 genes were found to encode members of known transcription factor families, 45% of which are from families specific for plants. (biomedcentral.com)
  • The presence of a homeodomain (HD), which comprises 60 amino acids, makes a three-helix tertiary structure, that binds the promoter regions of specific target genes (Sharif et al. (grassius.org)
  • Hox proteins finely coordinate antero-posterior axis during embryonic development and through their action specific target genes are expressed at the right time and space to determine the embryo body plan. (biomedcentral.com)
  • Developmental signals received by the Notch receptor cause Suppressor of Hairless (Su[H]) to mediate transcription of target genes. (sdbonline.org)
  • Homeodomain proteins are conserved DNA-binding factors that are involved in the transcriptional regulation of key developmental processes. (embl.de)
  • Pit-1, a member of the POU domain family of transcription factors, characterized by a bipartite DNA-binding domain, serves critical developmental functions based on binding to diverse DNA elements in its target genes. (rcsb.org)
  • Homeobox domain genes are mainly involved in controlling the growth and developmental processes such as transition through phases in an organism by encoding a certain transcription factor. (grassius.org)
  • Vollbrecht E, Veit B, Sinha N, Hake S. The developmental gene Knotted-1 is a member of a maize homeobox gene family. (grassius.org)
  • Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL). (lookformedical.com)
  • Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism. (lookformedical.com)
  • In Medicago, Mting1 gene‐edited mutants developed and flowered normally, but an Mting2‐1 Tnt1 insertion mutant and gene‐edited Mting2 mutants had developmental abnormalities including delayed flowering particularly in VLD, compact architecture, abnormal leaves with extra leaflets but no trichomes, and smaller seeds and barrels. (nsf.gov)
  • C) DAVID clustering analysis shows enrichment for developmental (dev) terms in all Smad2/3-associated genes and for genes that have stable Smad2/3 binding when E2a is depleted (red box in B) but not other subcategories of Smad2/3 binding. (xenbase.org)
  • By watching the gene appearance information of cells over the developmental period course because they migrate in the dermomyotome into forelimb, we are able to recognize the molecular players coincident with muscles stages because they are produced and preserved in coordination with various other cell lineages in the developing limb framework. (physiciansontherise.org)
  • The analysis of WOX gene expression and function shows that WOX family members fulfill specialized functions in key developmental processes in plants, such as embryonic patterning, stem-cell maintenance and organ formation. (gao-lab.org)
  • Duchenne muscular dystrophy (DMD) is a muscle wasting disease caused by mutations in the DMD gene, which encodes dystrophin. (seattlechildrens.org)
  • This gene encodes a member of the Bar subclass of homeobox transcription factors. (nih.gov)
  • The FA2 gene of Chlamydomonas encodes a NIMA family kinase with roles in cell cycle progression and microtubule severing during deflagellation. (bio.net)
  • A variety of prominent transcription factor families are present in all four species, including Myb, basic helix-loop-helix, basic leucine zipper, C2H2 zinc finger and homeodomain transcription factors. (biomedcentral.com)
  • The ability of Mini-RAG1 to interact with RAG2 depends on a predicted α-helix (amino acids 997-1008) near the RAG1 C terminus and a region of RAG1 from amino acids 479 to 559. (nih.gov)
  • The zinc finger-homeodomain (ZF-HD) TFs, containing a conserved zinc finger (ZF) domain in the N-terminal and a homeodomain (HD) in the C-terminal. (grassius.org)
  • For example, homeodomain SSTFs in combination of and signaling dominate the early patterning events in embryonic forelimb myogenesis, followed by the rise in importance of zinc-finger and helix-turn-helix SSTFs in fetal claims. (physiciansontherise.org)
  • The homeobox genes of animals are categorized into eleven classes, with the Antennapedia class (ANTP) being one of the largest, comprising the Hox, ParaHox and NK gene families [ 5 , 9 ]. (biomedcentral.com)
  • Homeodomain proteins play key roles in development and gene regulation in eukaryotes. (embl.de)
  • It also plays a role in gene expression regulation and RNA metabolism. (cnr.it)
  • These findings provide new insights into the role of nCaRE sequences in the transcriptional regulation of mammalian genes. (cnr.it)
  • TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
  • We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
  • Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
  • Driver events in pediatric malignancies can occur through loss of function in tumor suppressor genes or gain of function in proto-oncogenes. (medscape.com)
  • In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
  • This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
  • Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
  • Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
  • We are using CRISPR genome screening and precision editing in zebrafish to engineer mutations in genes that have been implicated in human congenital heart defects. (seattlechildrens.org)
  • More than 30 mammalian genes comprise the TGFβ superfamily of growth factors. (nature.com)
  • Previous work has identified members of the homeodomain and basic helix-loop-helix families of transcription factors as critical determinants of mammalian pancreatic development. (mdc-berlin.de)
  • Genes of the E(spl)-C and AS-C regulate neurogenesis and related differentiation pathways. (sdbonline.org)
  • SSTFs integrate external signals during patterning with shifting gene expression networks that coordinate the migration, proliferation, differentiation, and integration of cell types into fully functioning organs and multi-system limb constructions. (physiciansontherise.org)
  • Modulation of Basic Helix-Loop-Helix Transcription Complex Formation by Id Proteins during Neuronal Differentiation. (lu.se)
  • Direct evidence for this model comes from the identification of heterozygous germline mutations in the homeodomain transcription factor PHOX2B , a regulator of sympathetic neuronal differentiation [3] - [8] . (prolekarniky.cz)
  • Contrary to previous predictions, the dimerization interface involves the carboxyl terminus of the DNA recognition helix of the homeodomain, which in an extended conformation interacts with specific residues at the amino terminus of helix alpha1 and in the loop between helices alpha3 and alpha4 of the POU-specific domain of the symmetry related monomer. (rcsb.org)
  • Most HDs are able to bind DNA as monomers with high affinity, through interactions made by helix III (the so-called recognition helix) and a disordered N-terminal arm located beyond helix I. The high degree of conservation of this type of domain among diverse proteins from different kingdoms indicates that this structure is crucial to maintain the HD functionality and that the role played by this domain is vital. (gao-lab.org)
  • The expression patterns of Sox genes in the embryonic pancreas suggest that they could have important and possibly redundant functions in pancreas development. (mdc-berlin.de)
  • Mting2 mutants had reduced expression of activators of flowering, including the FT ‐like gene MtFTa1 , and increased expression of the candidate repressor MtTFL1c , consistent with the delayed flowering of the mutant. (nsf.gov)
  • The level and beta-cell specificity of insulin gene expression are regulated by a set of nuclear genes that bind to specific sequences within the promoter of the insulin gene INS and interact with RNA polymerase to activate or repress transcription. (wikipedia.org)
  • To look for functional nCaRE sequences within the human genome, we performed bioinformatic analyses and identified 57 genes potentially regulated by APE1. (cnr.it)
  • In this study, 23 HD-Zip genes distributed on 6 chromosomes were identified from the peach ( Prunus persica ) genome, and named PpHDZ01-23 according to their positions on the chromosomes. (biomedcentral.com)
  • Large tumor genome sequencing projects have now uncovered a few hundred genes involved in the onset of tumorigenesis, or drivers, in some two dozen malignancies. (biomedcentral.com)
  • The catalog of driver genes involved in the development of several malignancies has grown in recent years, as a result of whole-exome and whole-genome analyses of cohorts of tumors, mainly within the framework of large international consortia [ 3 , 4 ]. (biomedcentral.com)
  • These novel interactions open the possibility to analyze promoter function and gene expression to measure transcription factor binding dynamics at target sites throughout the genome. (biomedcentral.com)
  • A derivative that lacks this domain, while it cannot repress the endogenous fushi tarazu gene, can still reduce the activity of the fushi tarazu autoregulatory enhancer, suggesting that it competes with endogenous Fushi Tarazu for binding sites in vivo. (biologists.com)
  • The three helices formed a tight spherical structure with hydrophobic core under the action of two loops and one corner [ 2 ]. (biomedcentral.com)
  • We demonstrate that APE1 is part of a multiprotein complex including hOGG1, Ku70, and RNA Pol II, which is recruited on SIRT1 promoter to regulate SIRT1 gene functions during early response to oxidative stress. (cnr.it)
  • Thus, SMADs both transmit the signal into the nucleus and execute the downstream effects by directly regulating target-gene transcription. (nature.com)
  • 2021). ZmHOX32 , a member of the HD-ZIP III family (that also harbor a START domain that is able to bind to steroid ligands), appears to function in leaf morphogenesis and plant photosynthesis as judged by the enriched category of downstream genes that it regulates (Miao et al. (grassius.org)
  • One step in this direction is thus to understand exactly which downstream genes and cellular processes become affected in the outcome of driver alterations. (biomedcentral.com)
  • Nevertheless, to date, the actual misregulation of genes or processes downstream these cliques has not been systematically proven or exploited with the purpose of identifying them. (biomedcentral.com)
  • The NKL gene complement of E. rowelli comprises eight genes, including BarH , Bari , Emx , Hhex , Nedx , NK2.1 , vax and NK2.2 , of which only NK2.2 was studied previously. (biomedcentral.com)
  • Gene symbols, accession ids and various other target identifiers. (nih.gov)
  • We performed a multi-omics interrogation to define gene expression and chromatin remodeling associated with ASXL1 MT in chronic myelomonocytic leukemia (CMML). (nature.com)
  • Chromatin remodeling of promoters and enhancers is strongly associated with gene expression and heterogenous among overexpressed genes. (nature.com)
  • Exploiting the aforementioned catalogs of driver genes, for example, we recently revealed the mutational landscape of chromatin regulatory factors (CRFs) in cancer [ 5 ]. (biomedcentral.com)
  • 2) We have discovered a group of oncoproteins that are implicated in long-term maintenance of gene expression through their effects on the state of chromatin. (stanford.edu)
  • POU domain genes have been identified in diverse organisms including nematodes, flies, amphibians, fish and mammals but have not been yet identified in plants and fungi. (embl.de)
  • The second helix binds to DNA via a number of hydrogen bonds and hydrophobic interactions, which occur between specific side chains and the exposed bases and thymine methyl groups within the major groove of the DNA. (embl.de)
  • ASXL1 MT are further associated with de novo accessibility of distal enhancers binding ETS transcription factors, targeting important leukemogenic driver genes. (nature.com)
  • Furthermore, I am able to identify other driver genes that cause tumorigenesis through the alteration of very similar sets of targets. (biomedcentral.com)
  • This has opened up the possibility to carry out systematic studies to uncover the repertoire of functionally related groups of driver genes. (biomedcentral.com)
  • Mutant analysis revealed complex genetic interactions between FLK and several major SA pathway genes. (nsf.gov)
  • Another, poorly characterized function is its ability to bind to negative calcium responsive elements (nCaRE) of some gene promoters. (cnr.it)
  • The extent of dorsal action is closely related to the affinity and the number of dorsal response elements present in these zygotic gene promoters. (silverchair.com)
  • malpha and m4 embyonic expression patterns are nearly indistinguishable, and appear very similar to those of E(spl)-C bHLH genes, particularly m5, m7 and m8 . (sdbonline.org)
  • To further investigate the ancestral roles of NK family genes, we analyzed the expression patterns of NKL genes in the onychophoran Euperipatoides rowelli . (biomedcentral.com)
  • In the ventral part of the embryo, dorsal specifically activates transcription of the gene twist and ventrally and laterally dorsal represses the expression of zerkn üllt , a gene involved in the formation of dorsal derivatives. (silverchair.com)
  • The HD-ZIP gene family is composed of two functional domains, i.e. (grassius.org)
  • The presence of many functional nCaRE sequences regulating gene transcription can be envisioned, given their conservation within ALU repeats. (cnr.it)
  • It is assumed that the Id helix-loop-helix (HLH) proteins act by associating with ubiquitously expressed basic HLH (bHLH) transcription factors, such as E47 and E2-2, which prevents these factors from forming functional hetero- or homodimeric DNA binding complexes. (lu.se)
  • Homeodomain interactions. (embl.de)
  • Graphical representation via network evaluation of gene appearance data allows the visualization of complicated interactions in huge data sets within an user-friendly format. (physiciansontherise.org)
  • Therefore m2 might serve as a Notch target gene. (sdbonline.org)
  • E2a Is Required for Subsets of Smad2/3 Binding and for Global Patterns of Smad2/3 Target Gene Expression (A) Smad2/3 targets 1,027 distinct genomic regions in control stage 10.5 embryos (yellow) and 1,671 regions in E2a -depleted embryos (blue). (xenbase.org)
  • Normal Fushi Tarazu target genes are affected as they are in fushi tarazu mutants. (biologists.com)
  • One such target gene is repressed by EFE even where Fushi Tarazu is not expressed, suggesting that the repression is active. (biologists.com)
  • The capacity to simultaneously screen thousands of target genes makes this technique an especially powerful tool for detecting pathogenic mutations that cause heterogeneous disorders such as hereditary hearing loss. (biomedcentral.com)
  • This mechanism also applies to hematopoietic cells transformed by other HOX genes, including CDX2, which is highly expressed in a majority of acute myeloid leukemias, thus providing a molecular approach based on GSK-3 inhibitory strategies to target HOX-associated transcription in a broad spectrum of leukemias. (stanford.edu)
  • It represses GENETIC TRANSCRIPTION of target GENES and plays a critical role in ODONTOGENESIS. (bvsalud.org)
  • Total count of NCBI Gene Reference Into Function hits for target listed in parenthesis, and summary table with links to publications per PMID with the specific text in article that includes the reported target. (nih.gov)
  • Number of Gene Ontology (GO) annotations for this target, consisting of the sum of GO Functions and GO Processes. (nih.gov)
  • During this process, significant changes happen in gene manifestation10 and the underlying gene regulatory networks11,12, but little information is known concerning specifics that get the molecular procedures. (physiciansontherise.org)
  • A specific kind of network, co-expression systems, are created from transcriptomics data to reveal patterns of gene manifestation in dynamic systems18C20, and have been used to identify cell-type specific patterns of gene manifestation during development ISA-2011B and the changes in regulatory relationships responsible for cell-state phenotypes21,22, among additional uses. (physiciansontherise.org)
  • Here, we investigate how perturbation of the cofactor E2a affects global patterns of Smad2 /3 binding and gene expression during gastrulation. (xenbase.org)
  • RNA-seq data showed that FLK regulates expression abundance of some major defense- and development-related genes as well as alternative splicing of a number of genes. (nsf.gov)
  • Surprisingly, m2 transcripts also accumulate in a pattern reminiscent of the transcript distribution of E(spl) bHLH genes, although there are no structural similarites with either the bHLH or the m4/malpha genes. (sdbonline.org)
  • Past structural studies have focused on the binding of monomeric homeodomains to DNA, but two recent structures have revealed how homeodomains bind DNA as multimers. (embl.de)
  • Structural modeling of Mini-RAG1 suggests that Asp-546/Glu-547 lie near the predicted 997-1008 α-helix and components of the active site, raising the possibility that RAG2 binding alters the structure of the RAG1 active site. (nih.gov)