WebChromosomal rearrangements deregulating hematopoietic transcription factors are common in acute lymphoblastic leukemia (ALL). [provided by RefSeq, Jul 2008], class II, major histocompatibility complex, transactivator|This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. [provided by RefSeq, Jul 2008], transcription factor 21|TCF21 encodes a transcription factor of the basic helix-loop-helix family. WebFunction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009], transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)|The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. [provided by RefSeq, Oct 2009], SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4|The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Evan G, Harrington E, Fanidi A, Land H, Amati B, Bennett M (Aug 1994). This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. Lachmann, A et al. In the brain's reward system, it is linked to changes in a number of other gene products, such as CREB and sirtuins. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. [17][18][19] Many of these GTFs do not actually bind DNA, but rather are part of the large transcription preinitiation complex that interacts with RNA polymerase directly. A continuacin se describen algunas funciones importantes y papeles biolgicos que involucran a los factores de transcripcin. Microsoft pleaded for its deal on the day of the Phase 2 decision last month, but now the gloves are well and truly off. Transcript variants encoding different isoforms have been identified for this gene. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. Debido a su importancia en el desarrollo, la sealizacin intercelular y el ciclo celular, algunas enfermedades humanas han sido asociadas a mutaciones en los factores de transcripcin. Hence, the combinatorial use of a subset of the approximately 2000 human transcription factors easily accounts for the unique regulation of each gene in the human genome during development.[11]. [provided by RefSeq, Jul 2013], paired box 6|This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. [provided by RefSeq, Sep 2009], decapping mRNA 1A|Decapping is a key step in general and regulated mRNA decay. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. WebE74-like factor 5 (ets domain transcription factor)|The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. In the brain's reward system, it is linked to changes in a number of other gene products, such as CREB and sirtuins. WebETS variant transcription factor 5 and c-Myc cooperate in derepressing the human telomerase gene promoter via composite ETS/E-box motifs. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. Web20682 Ensembl ENSG00000125398 ENSMUSG00000000567 UniProt P48436 Q04887 RefSeq (mRNA) NM_000346 NM_011448 RefSeq (protein) NP_000337 NP_035578 Location (UCSC) Chr 17: 72.12 72.13 Mb Chr 11: 112.67 112.68 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Transcription factor SOX-9 is a protein that in humans The function of TFs is to regulateturn on and offgenes in order to make sure that they are expressed in the The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. [provided by RefSeq, Mar 2012], eomesodermin|This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. Studies suggest this is a cancer suppressor gene. This protein binds to the serum response element (SRE) in the promoter region of target genes. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. Chadwick LH, Wade PA (Apr 2007). The empty string is the special case where the sequence has length zero, so there are no symbols in the string. Este es un mecanismo que mantiene estables los niveles de un factor de transcripcines en una clula. Adems, los genes son normalmente rodeados por varios sitios de unin para diferentes factores de transcripcin, y la expresin eficiente de cada uno de estos genes requiere la accin cooperativa de varios factores de transcripcin (ver, por ejemplo, los factores de transcripcin nuclear del hepatocito). [provided by RefSeq, Jul 2008], NOBOX oogenesis homeobox|This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. These transcription factors are critical to making sure that genes are expressed in the right cell at the right time and in the right amount, depending on the changing requirements of the organism. The founding member of this family was The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. [provided by RefSeq, Dec 2014], E74-like factor 1 (ets domain transcription factor)|This gene encodes an E26 transformation-specific related transcription factor. [provided by RefSeq, Jul 2008], estrogen receptor 1|This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Alternative splicing results in multiple transcript variants. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. Roeder RG (Sep 1996). Alternative splicing results in multiple transcript variants. Here we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG is a hallmark of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL. [provided by RefSeq, Jul 2008], nuclear transcription factor Y, beta|The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. [provided by RefSeq, Jul 2011], forkhead box O1|This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Below are a few of the better-studied examples: Approximately 10% of currently prescribed drugs directly target the nuclear receptor class of transcription factors. Thus, transcription factors do not bind just one sequence but are capable of binding a subset of closely related sequences, each with a different strength of interaction. WebChromosomal rearrangements deregulating hematopoietic transcription factors are common in acute lymphoblastic leukemia (ALL). The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. [provided by RefSeq, Jul 2008], tumor protein p53|This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. Scaling laws in the functional content of genomes. Misregulation of this gene may be associated with rheumatoid arthritis. [73] Examples include tamoxifen and bicalutamide for the treatment of breast and prostate cancer, respectively, and various types of anti-inflammatory and anabolic steroids. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. The proto Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. If the signal requires upregulation or downregulation of genes in the recipient cell, often transcription factors will be downstream in the signaling cascade. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternative splicing results in multiple transcript variants. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. This transcription factor functions in heart formation and development. WebTranscription factor Jun is a protein that in humans is encoded by the JUN gene. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. A continuacin est una lista parcial de algunas de las familias ms importantes de los dominios de unin al ADN/factores de transcripcin: La secuencia de ADN a la que se une un factor de transcripcin se conoce como el sitio de unin del factor de transcripcin o elemento de respuesta.[51]. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. DeltaFosB more commonly written as FosB is a truncated splice variant of the FOSB gene. [provided by RefSeq, Nov 2008], lymphoblastic leukemia associated hematopoiesis regulator 1|This gene represents a basic helix-loop-helix transcription factor. Overexpression of HOXB5 promoted CRC metastasis by transactivating metastatic related genes, C-X-C motif chemokine receptor 4 (CXCR4) and integrin subunit beta 3 (ITGB3). These genes play critical roles during fetal development and cancer growth. Ottolenghi C, Uda M, Crisponi L, Omari S, Cao A, Forabosco A, Schlessinger D (Jan 2007). Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040). The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Oct 2011], nuclear factor, interleukin 3 regulated|The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. [provided by RefSeq, Feb 2011], nuclear receptor subfamily 4, group A, member 2|This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Mutations in this gene are associated with generalized glucocorticoid resistance. WebA factor (Rho factor) is a bacterial protein involved in the termination of transcription. Iwakuma T, Lozano G, Flores ER (Jul 2005). [provided by RefSeq, Mar 2014], estrogen receptor 2 (ER beta)|This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. HOXB5 expression was an independent and significant risk factor for the recurrence and survival in CRC patients. The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Three transcript variants encoding different isoforms have been found for this gene. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Esta pgina se edit por ltima vez el 27 nov 2021 a las 03:01. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). The DNA binding region comprises a number of basic amino acids such as [25] Estrogen signaling is an example of a fairly short signaling cascade that involves the estrogen receptor transcription factor: Estrogen is secreted by tissues such as the ovaries and placenta, crosses the cell membrane of the recipient cell, and is bound by the estrogen receptor in the cell's cytoplasm. Three transcript variants encoding the same protein have been found for this gene. Post-translational modifications such as [provided by RefSeq, Jul 2008], retinoic acid receptor, gamma|This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Transcription factor competition at the gamma-globin promoters controls hemoglobin switching. [provided by RefSeq, Oct 2008], forkhead box M1|The protein encoded by this gene is a transcriptional activator involved in cell proliferation. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Here we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG is a hallmark of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. [provided by RefSeq, Apr 2014], nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)|This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. Jin J, He K, Tang X, Li Z, Lv L, Zhao Y, Luo J, Gao G (2015). [provided by RefSeq, Jul 2009], TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa|This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. [provided by RefSeq, Jul 2008], jumonji, AT rich interactive domain 2|This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Transcription factor Sp1, also known as specificity protein 1* is a protein that in humans is encoded by the SP1 gene. [provided by RefSeq, Jul 2008], GATA binding protein 2|This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. Alternatively spliced transcript variants that encode different isoforms have been described. Alternatively spliced transcript variants encoding the same protein have been observed. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. Alternate splicing results in multiple transcript variants. novel transcription factor binding partners for PIAS3 including ETS, EGR1, NR1I2, and GATA1 were identified. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. [provided by RefSeq, Dec 2014], paired box 4|This gene is a member of the paired box (PAX) family of transcription factors. The encoded protein contains a basic helix-loop-helix leucine zipper domain.Various single nucleotide polymorphisms (SNPs) of the SREBF2 have been identified and some of them are found to It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. EGR1 is an important transcription factor in memory formation. Cofactors are proteins that modulate the effects of transcription factors. The members of the family have been implicated in the development of different tissues as well as cancer progression. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. [provided by RefSeq, Aug 2013], B-cell CLL/lymphoma 3|This gene is a proto-oncogene candidate. Utilizando un EMSA (electrophoretic mobility shift assay),[74] se puede detectar el perfil de activacin de los factores de transcripcin. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Carretero-Paulet, Lorenzo;Galstyan, Anahit;Roig-Villanova, Irma;Martnez-Garca, Jaime F.;Bilbao-Castro, Jose R.Genome-Wide Classification and Evolutionary Analysis of the bHLH Family of Transcription Factors in Arabidopsis, Poplar, Rice, Moss, and Algae. [provided by RefSeq, Feb 2014], doublesex and mab-3 related transcription factor 1|This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). Defects in this gene result in premature ovarian failure type 5. The function of TFs is to regulateturn on and offgenes in order to make sure that they are expressed in the WebE74-like factor 5 (ets domain transcription factor)|The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. When seeking models for specific factors or [provided by RefSeq, May 2010], SUZ12 polycomb repressive complex 2 subunit|This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. As described in more detail below, transcription factors may be classified by their (1) mechanism of action, (2) regulatory function, or (3) sequence homology (and hence structural similarity) in their DNA-binding domains. Protein-coding gene in the species Homo sapiens, transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding, RNA polymerase II transcription regulatory region sequence-specific DNA binding, DNA-binding transcription activator activity, RNA polymerase II-specific, DNA-binding transcription factor activity, RNA polymerase II cis-regulatory region sequence-specific DNA binding, core promoter sequence-specific DNA binding, DNA-binding transcription factor activity, RNA polymerase II-specific, cis-regulatory region sequence-specific DNA binding, positive regulation of hydrogen sulfide biosynthetic process, regulation of transcription by RNA polymerase II, positive regulation of transcription, DNA-templated, regulation of transcription, DNA-templated, positive regulation of transcription by RNA polymerase II, regulation of cholesterol biosynthetic process, positive regulation of blood vessel endothelial cell migration, positive regulation of vascular endothelial cell proliferation, GRCh38: Ensembl release 89: ENSG00000185591, GRCm38: Ensembl release 89: ENSMUSG00000001280, "The LIM protein Ajuba/SP1 complex forms a feed forward loop to induce SP1 target genes and promote pancreatic cancer cell proliferation", "The aryl hydrocarbon receptor mediates degradation of estrogen receptor alpha through activation of proteasomes", "Iron loss triggers mitophagy through induction of mitochondrial ferritin", "Modulation of specificity protein 1 by mithramycin A as a novel therapeutic strategy for cervical cancer", "Withaferin A suppresses the expression of vascular endothelial growth factor in Ehrlich ascites tumor cells via Sp1 transcription", "miR-375-3p suppresses tumorigenesis and partially reverses chemoresistance by targeting YAP1 and SP1 in colorectal cancer cells", "Che-1 arrests human colon carcinoma cell proliferation by displacing HDAC1 from the p21WAF1/CIP1 promoter", "Functional cooperation of simian virus 40 promoter factor 1 and CCAAT/enhancer-binding protein beta and delta in lipopolysaccharide-induced gene activation of IL-10 in mouse macrophages", "A nucleoprotein complex containing Sp1, C/EBP beta, and HMGI-Y controls human insulin receptor gene transcription", "Cell cycle-regulated association of E2F1 and Sp1 is related to their functional interaction", "Interaction of Sp1 with the growth- and cell cycle-regulated transcription factor E2F", "FOSL1 controls the assembly of endothelial cells into capillary tubes by direct repression of v and 3 integrin transcription", "Constitutive expression of the Id-1 promoter in human metastatic breast cancer cells is linked with the loss of NF-1/Rb/HDAC-1 transcription repressor complex", "Silencing of transcription of the human luteinizing hormone receptor gene by histone deacetylase-mSin3A complex", "The transcriptional repressor Sp3 is associated with CK2-phosphorylated histone deacetylase 2", "Sp1 and Sp3 recruit histone deacetylase to repress transcription of human telomerase reverse transcriptase (hTERT) promoter in normal human somatic cells", "Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1", "Interaction of Huntington disease protein with transcriptional activator Sp1", "Transcriptional activation of endoglin and transforming growth factor-beta signaling components by cooperative interaction between Sp1 and KLF6: their potential role in the response to vascular injury", "Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1", "Transcriptional autorepression of Msx1 gene is mediated by interactions of Msx1 protein with a multi-protein transcriptional complex containing TATA-binding protein, Sp1 and cAMP-response-element-binding protein-binding protein (CBP/p300)", "Myogenic basic helix-loop-helix proteins and Sp1 interact as components of a multiprotein transcriptional complex required for activity of the human cardiac alpha-actin promoter", "The transcription factors Sp1 and Oct-1 interact physically to regulate human U2 snRNA gene expression", "RelA-associated inhibitor blocks transcription of human immunodeficiency virus type 1 by inhibiting NF-kappaB and Sp1 actions", "Human Sug1/p45 is involved in the proteasome-dependent degradation of Sp1", "The promyelocytic leukemia protein interacts with Sp1 and inhibits its transactivation of the epidermal growth factor receptor promoter", "Interaction of the v-Rel oncoprotein with cellular transcription factor Sp1", "Identification of a critical Sp1 site within the endoglin promoter and its involvement in the transforming growth factor-beta stimulation", "Sp1 and Smad proteins cooperate to mediate transforming growth factor-beta 1-induced alpha 2(I) collagen expression in human glomerular mesangial cells", "Sp1 and SF-1 interact and cooperate in the regulation of human steroidogenic acute regulatory protein gene expression", "The SCL complex regulates c-kit expression in hematopoietic cells through functional interaction with Sp1", "Sp1-mediated transcription of the Werner helicase gene is modulated by Rb and p53", "Development of zinc finger domains for recognition of the 5'-ANN-3' family of DNA sequences and their use in the construction of artificial transcription factors", "The regulation of E2F by pRB-family proteins", "Dual mechanisms of regulation of transcription of luteinizing hormone receptor gene by nuclear orphan receptors and histone deacetylase complexes", "Partner molecules of accessory protein Vpr of the human immunodeficiency virus type 1", "The Vpr protein from HIV-1: distinct roles along the viral life cycle", "Synergistic activation of the human immunodeficiency virus type 1 promoter by the viral Tat protein and cellular transcription factor Sp1", "Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters", "Sp1-dependent activation of a synthetic promoter by human immunodeficiency virus type 1 Tat protein", "Role of SP1-binding domains in in vivo transcriptional regulation of the human immunodeficiency virus type 1 long terminal repeat", "Functional analysis of the human endothelial nitric oxide synthase promoter. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. Most transcription factors do not work alone. the vertebrate Etv1 and the invertebrate Ast-1, have been shown to be important players in the specification and differentiation of dopaminergic neurons in both C. elegans and olfactory bulbs of mice. [provided by RefSeq, Apr 2014], estrogen receptor 1|This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2009], E74-like factor 5 (ets domain transcription factor)|The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [1][2] Los factores de transcripcin hacen esto solos o en conjunto a otros complejos proteicos promoviendo (como un activador) o silenciando (como un represor) el reclutamiento de la RNA polimerasa (la enzima que hace la transcripcin de informacin gentica de ADN a RNA) a genes especficos. Two transcript variants encoding different isoforms have been found for this gene. [28][29] Un ejemplo es el oncogn Myc, el cual tiene papeles importantes en el crecimiento celular y apoptosis. Diseases associated with EGR1 include Ischemia and Monocytic Leukemia.Among its related pathways are PIP3 activates AKT signaling and Hepatocyte growth factor receptor signaling.Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor Rho factor binds to the transcription terminator pause site, an exposed region of single stranded RNA (a stretch of 72 nucleotides) after the open reading frame at C-rich/G-poor sequences that lack obvious secondary structure.. Rho factor is an essential transcription protein in Alternatively spliced transcript variants have been described, but their biological validity has not been determined. Alternatively spliced transcript variants encoding distinct isoforms have been reported. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. Alternate splicing results in multiple transcript variants. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. The HIF transcriptional complex was discovered in 1995 by Gregg L. Semenza and postdoctoral fellow Guang Wang. [provided by RefSeq, Jun 2009], v-myc avian myelocytomatosis viral oncogene homolog|The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. Nine-amino-acid transactivation domain: establishment and prediction utilities. WebDeltaFosB. This protein also participates in the TGF-beta signaling pathway. The protein encoded by this gene is mainly expressed in the nucleus. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, May 2009], host cell factor C1|This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal.
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