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AHR | aryl hydrocarbon receptor; Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates. Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons. Involved in cell-cycle regulation. Likely to play an important role in the development and maturation of many tissues (848 aa) | |||
TRIM37 | tripartite motif containing 37; E3 ubiquitin-protein ligase (964 aa) | |||
TRAF4 | TNF receptor-associated factor 4; Adapter protein and signal transducer that links members of the tumor necrosis factor receptor (TNFR) family to different signaling pathways. Plays a role in the activation of NF-kappa-B and JNK, and in the regulation of cell survival and apoptosis. Regulates activation of NF-kappa-B in response to signaling through Toll-like receptors. Required for normal skeleton development, and for normal development of the respiratory tract (By similarity). Required for activation of RPS6KB1 in response to TNF signaling. Modulates TRAF6 functions (470 aa) | |||
EPAS1 | endothelial PAS domain protein 1; Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5’-[AG]CGTG-3’ within the hypoxia response element (HRE) of target gene promoters. Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation seems to require recruitment of transcript [...] (870 aa) | |||
CDR2 | cerebellar degeneration-related protein 2, 62kDa (454 aa) | |||
MAGEA4 | melanoma antigen family A, 4; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression (317 aa) | |||
TRIM42 | tripartite motif containing 42 (723 aa) | |||
SIM2 | single-minded homolog 2 (Drosophila); Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development (667 aa) | |||
ARNT2 | aryl-hydrocarbon receptor nuclear translocator 2; Specifically recognizes the xenobiotic response element (XRE) (717 aa) | |||
NPAS4 | neuronal PAS domain protein 4; Acts as a transcriptional activator in the presence of ARNT. Can activate the CME (CNS midline enhancer) element and the expression of the drebrin gene (802 aa) | |||
DTX2 | deltex homolog 2 (Drosophila); Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Functions as an ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (622 aa) | |||
TACC3 | transforming, acidic coiled-coil containing protein 3; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May be involved in the control of cell growth and differentiation. May contribute to cancer (838 aa) | |||
MIPOL1 | mirror-image polydactyly 1 (442 aa) | |||
CEP63 | centrosomal protein 63kDa; Required for normal spindle assembly. Maintains centrosome numbers through centrosomal recruitment of CEP152. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (By similarity) (703 aa) | |||
HIF1A | hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor); Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Binds to [...] (826 aa) | |||
SSX2IP | synovial sarcoma, X breakpoint 2 interacting protein (614 aa) | |||
SYCE1 | synaptonemal complex central element protein 1; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity) (351 aa) | |||
IKZF3 | IKAROS family zinc finger 3 (Aiolos) (509 aa) | |||
RBCK1 | RanBP-type and C3HC4-type zinc finger containing 1; E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome. Component of the LUBAC complex which conjugates linear (’M-1’-linked) polyubiquitin chains to substrates and plays a key role in NF- kappa-B activation and regulation of inflammation. LUBA [...] (510 aa) | |||
ARNT | aryl hydrocarbon receptor nuclear translocator; Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer with HIF1A or EPAS1/HIF2A functions as a transcriptional regulator of the adaptive response to hypoxia (789 aa) | |||
PDE4DIP | phosphodiesterase 4D interacting protein (2362 aa) | |||
NCOA3 | nuclear receptor coactivator 3 (1424 aa) | |||
HEYL | hairy/enhancer-of-split related with YRPW motif-like; Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5’-CACGTG-3’ (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 (328 aa) | |||
CCDC33 | coiled-coil domain containing 33 (755 aa) | |||
VPS52 | vacuolar protein sorting 52 homolog (S. cerevisiae); May be involved in retrograde transport of early and late endosomes to the late Golgi. The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (723 aa) | |||
MEIS2 | Meis homeobox 2 (477 aa) |