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| GCHFR | GTP cyclohydrolase 1 feedback regulatory protein; Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine (84 aa) | |||
| DOCK11 | Dedicator of cytokinesis protein 11; Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formation, MZ B-cell number and marginal metallophilic macrophages morphology. Facilitates filopodia formation through the activation of CDC42; Belongs to the DOCK family (2073 aa) | |||
| PTS | 6-pyruvoyl tetrahydrobiopterin synthase; Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6- pyruvoyl tetrahydropterin; Belongs to the PTPS family (145 aa) | |||
| CAMKK2 | Calcium/calmodulin-dependent protein kinase kinase 2; Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Isoform 1, isoform 2 and isoform 3 phosphorylate CAMK1 and CAMK4. Isoform 3 phosphorylates CAMK1D. Isoform 4, isoform 5 and isoform 6 lacking part of the calmodulin- binding domain are inactive. Efficiently phosphorylates 5’-AMP- activated protein kinase (AMPK) trimer, including that consisting of PRKAA1, PRKAB1 and PRKAG1. This phosphorylation is stimulated in response to Ca(2+) signals [...] (588 aa) | |||
| IRF2BP2 | Interferon regulatory factor 2-binding protein 2; Acts as a transcriptional corepressor in a IRF2- dependent manner; this repression is not mediated by histone deacetylase activities. Represses the NFAT1-dependent transactivation of NFAT-responsive promoters. Acts as a coactivator of VEGFA expression in cardiac and skeletal muscle; Belongs to the IRF2BP family (587 aa) | |||
| HBS1L | HBS1-like protein; HBS1 like translational GTPase; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family (684 aa) | |||
| NEBL | Nebulette; Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres. Isoform 2 might play a role in the assembly of focal adhesion; LIM domain containing (1014 aa) | |||
| PUSL1 | Pseudouridylate synthase-like 1; Belongs to the tRNA pseudouridine synthase TruA family (303 aa) | |||
| CBFB | Core-binding factor subunit beta; CBF binds to the core site, 5’-PYGPYGGT-3’, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM- CSF promoters. CBFB enhances DNA binding by RUNX1; Belongs to the CBF-beta family (187 aa) | |||
| EIF4G1 | Eukaryotic translation initiation factor 4 gamma 1; Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5’-terminal secondary structure and recruitment of mRNA to the ribosome; Parkinson disease associated genes (1606 aa) | |||
| GCH1 | GTP cyclohydrolase 1; Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown; Belongs to the GTP cyclohydrolase I family (250 aa) | |||
| MYC | Myc proto-oncogene protein; Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5’- CAC[GA]TG-3’. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis; Basic helix-loop-helix proteins (454 aa) | |||
| FXYD1 | Phospholemman; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone (92 aa) | |||
