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MEF2B | myocyte enhancer factor 2B; Transcriptional activator which binds specifically to the MEF2 element, 5’-YTA[AT](4)TAR-3’, found in numerous muscle- specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription (368 aa) | |||
LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that of DELTA1. Essential mediator of somite segmentation and patterning (By similarity) (379 aa) | |||
MTX2 | metaxin 2; Involved in transport of proteins into the mitochondrion (263 aa) | |||
PBX4 | pre-B-cell leukemia homeobox 4 (374 aa) | |||
GADD45G | growth arrest and DNA-damage-inducible, gamma; Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK (159 aa) | |||
NOTCH2 | notch 2 (2471 aa) | |||
NOTCH3 | notch 3; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity) (2321 aa) | |||
SRF | serum response factor (c-fos serum response element-binding transcription factor); SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5’ of the site of transcription initiation of some genes (such as FOS). Required for cardiac differentiation and maturation (508 aa) | |||
MEF2D | myocyte enhancer factor 2D; Transcriptional activator which binds specifically to the MEF2 element, 5’-YTA[AT](4)TAR-3’, found in numerous muscle- specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity) (521 aa) | |||
NOTCH1 | notch 1; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May be important for normal lymphocyte function. In altered form, may contribute to transformation or progression in some T-cell neoplasms. Involved in the maturation of both CD4+ and CD8+ c [...] (2555 aa) | |||
IRX6 | iroquois homeobox 6 (446 aa) | |||
RFNG | RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. May be involved in limb formation and in neurogenesis (By similarity) (331 aa) | |||
EXOSC4 | exosome component 4; Non-catalytic component of the RNA exosome complex which has 3’->5’ exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding ’pervasive’ transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The R [...] (245 aa) | |||
MEF2C | myocyte enhancer factor 2C; Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle- specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platel [...] (483 aa) | |||
MEF2A | myocyte enhancer factor 2A (499 aa) | |||
MFNG | MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase involved in the elongation of O- linked ligands to activate Notch signaling. Possesses fucose- specific beta-1,3-N-acetylglucosaminyltransferase activity (321 aa) | |||
GADD45A | growth arrest and DNA-damage-inducible, alpha; In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity (By similarity). Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase (165 aa) | |||
TSHZ2 | teashirt zinc finger homeobox 2; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential) (1034 aa) | |||
PSMB2 | proteasome (prosome, macropain) subunit, beta type, 2; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit has a trypsin-like activity (201 aa) | |||
PBX3 | pre-B-cell leukemia homeobox 3; Transcriptional activator that binds the sequence 5’- ATCAATCAA-3’ (434 aa) | |||
PBX2 | pre-B-cell leukemia homeobox 2; Transcriptional activator that binds the sequence 5’- ATCAATCAA-3’. Activates transcription of PF4 in complex with MEIS1 (430 aa) | |||
POMP | proteasome maturation protein; Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum (141 aa) | |||
ENSG00000249319 | Uncharacterized protein (293 aa) | |||
PBX1 | pre-B-cell leukemia homeobox 1; Binds the sequence 5’-ATCAATCAA-3’. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1-PBX1b-MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element [...] (430 aa) | |||
NUB1 | negative regulator of ubiquitin-like proteins 1; Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2 (601 aa) |