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| MYBL2 | Myb-related protein B; Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene; Myb/SANT domain containing (700 aa) | |||
| TBPL1 | TATA box-binding protein-like protein 1; Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5’-TCT-3’ motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box (186 aa) | |||
| EGR1 | Early growth response protein 1; Transcriptional regulator. Recognizes and binds to the DNA sequence 5’-GCG(T/G)GGGCG-3’(EGR-site) in the promoter region of target genes (By similarity). Binds double- stranded target DNA, irrespective of the cytosine methylation status. Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor form [...] (543 aa) | |||
| TBPL2 | TATA box-binding protein-like protein 2; Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity); Belongs to the TBP family (375 aa) | |||
| PIN1 | Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1; Peptidyl-prolyl cis/trans isomerase (PPIase) that binds to and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr- Pro) motifs. By inducing conformational changes in a subset of phosphorylated proteins, acts as a molecular switch in multiple cellular processes. Displays a preference for acidic residues located N-terminally to the proline bond to be isomerized. Regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Down-regulates kinase activity of BTK. Can transactivate multiple [...] (163 aa) | |||
| PITX1 | Pituitary homeobox 1; Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb; Belongs to the paired homeobox family. Bicoid subfamily (314 aa) | |||
| SMARCA2 | Probable global transcription activator SNF2L2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural develop [...] (1590 aa) | |||
| NEUROD1 | Neurogenic differentiation factor 1; Acts as a transcriptional activator- mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5’-CANNTG-3’. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or [...] (356 aa) | |||
| RFX6 | DNA-binding protein RFX6; Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin. Not required for pancreatic PP (polypeptide- producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by [...] (928 aa) | |||
| SMAD3 | Mothers against decapentaplegic homolog 3; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and mi [...] (425 aa) | |||
| MYB | Transcriptional activator Myb; Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5’-YAAC[GT]G-3’. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells; Myb/SANT domain containing (761 aa) | |||
| POU1F1 | Pituitary-specific positive transcription factor 1; Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5’-TAAAT-3’. Activates growth hormone and prolactin genes; Belongs to the POU transcription factor family. Class- 1 subfamily (317 aa) | |||
| PLSCR1 | Phospholipid scramblase 1; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system (318 aa) | |||
| GTF2E2 | Transcription initiation factor IIE subunit beta; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase; General transcription factors (291 aa) | |||
| SOX15 | Protein SOX-15; Binds to the 5’-AACAAT-3’ sequence; SRY-boxes (233 aa) | |||
| GTF2B | Transcription initiation factor IIB; General factor that plays a major role in the activation of eukaryotic genes transcribed by RNA polymerase II; Belongs to the TFIIB family (316 aa) | |||
| NR5A1 | Steroidogenic factor 1; Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5’-YCAAGGYC-3’ and 5’- RRAGGTCA-3’ are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (B [...] (461 aa) | |||
| MAGED1 | Melanoma-associated antigen D1; Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3-substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression [...] (834 aa) | |||
| ROR2 | Tyrosine-protein kinase transmembrane receptor ROR2; Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation. In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling; I-set domain containing (943 aa) | |||
| SF1 | Splicing factor 1; Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5’-UACUAAC-3’ of the pre-mRNA. May act as transcription repressor; Spliceosomal A complex (673 aa) | |||
| FOXO1 | Forkhead box protein O1; Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress. Binds to the insulin response element (IRE) with consensus sequence 5’-TT[G/A]TTTTG-3’ and the related Daf-16 family binding element (DBE) with consensus sequence 5’- TT[G/A]TTTAC-3’. Activity suppressed by insulin. Main regulator of redox balance and osteoblast numbers and controls bone mass. Orchestrates the endocrine function of the skeleton in regulating glucose metabolism. Acts synergistically with ATF4 to suppress osteocal [...] (655 aa) | |||
| TBP | TATA-box-binding protein; General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase [...] (339 aa) | |||
| TRAPPC2 | Trafficking protein particle complex subunit 2; Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. Sedlin subfamily (174 aa) | |||
| NHLRC4 | NHL-repeat-containing protein 4; NHL repeat containing 4 (123 aa) | |||
| ENSG00000279624 | annotation not available (57 aa) | |||
| ADSL | Adenylosuccinate lyase; Catalyzes two non-sequential steps in de novo AMP synthesis- converts (S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate; Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily (484 aa) | |||
