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PIN1 | peptidylprolyl cis/trans isomerase, NIMA-interacting 1; Essential PPIase that regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Displays a preference for an acidic residue N-terminal to the isomerized proline bond. Catalyzes pSer/Thr-Pro cis/trans isomerizations. Down-regulates kinase activity of BTK. Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation. Binds and targets PML [...] (163 aa) | |||
DNAJA3 | DnaJ (Hsp40) homolog, subfamily A, member 3; Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma- mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway (480 aa) | |||
CAD | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase; This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase) (2225 aa) | |||
SMARCA2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2; Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chrom [...] (1590 aa) | |||
TAF1 | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (1893 aa) | |||
LRRK2 | leucine-rich repeat kinase 2; May play a role in the phosphorylation of proteins central to Parkinson disease. Phosphorylates PRDX3. May also have GTPase activity. Positively regulates autophagy through a calcium- dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes (2527 aa) | |||
MLLT6 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (1093 aa) | |||
RIPK4 | receptor-interacting serine-threonine kinase 4; Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation (784 aa) | |||
VAPA | VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa; May play a role in vesicle trafficking (294 aa) | |||
MCRS1 | microspherule protein 1; Modulates the transcription repressor activity of DAXX by recruiting it to the nucleolus. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. May also be an inhibitor of TERT telomerase activity (475 aa) | |||
SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephos [...] (1679 aa) | |||
AP4M1 | adaptor-related protein complex 4, mu 1 subunit; Component of the AP-4 complex, a novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal- lysosomal system. Plays a role in the intracellular trafficking of APP from the trans-Golgi network (TGN) to endosomes, and thereby inhibits amyloidogenic processing of APP (453 aa) | |||
SIN3A | SIN3 transcription regulator homolog A (yeast); Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA (By similarity). Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation (1273 aa) | |||
UBQLN4 | ubiquilin 4; Plays a role in the regulation of proteasomal protein degradation. Depending on the case, may promote or inhibit proteasomal protein degradation (601 aa) | |||
KDM2B | lysine (K)-specific demethylase 2B; Histone demethylase that demethylates ’Lys-4’ and ’Lys- 36’ of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 ’Lys-4’ and dimethylated H3 ’Lys-36’ residue while it has weak or no activity for mono- and tri-methylated H3 ’Lys-36’. Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation. May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin [...] (1336 aa) | |||
SIN3B | SIN3 transcription regulator homolog B (yeast); Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription (By similarity) (1162 aa) | |||
FBXL19 | F-box and leucine-rich repeat protein 19; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity) (694 aa) | |||
ASH1L | ash1 (absent, small, or homeotic)-like (Drosophila); Histone methyltransferase specifically methylating ’Lys- 36’ of histone H3 (H3K36me) (2964 aa) | |||
PNPLA7 | patatin-like phospholipase domain containing 7 (1342 aa) | |||
ZBTB22 | zinc finger and BTB domain containing 22; May be involved in transcriptional regulation (634 aa) | |||
PNPLA6 | patatin-like phospholipase domain containing 6; Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy (1375 aa) | |||
TAF1L | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like; May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced (1826 aa) | |||
KDM2A | lysine (K)-specific demethylase 2A; Histone demethylase that specifically demethylates ’Lys- 36’ of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 ’Lys-36’ residue while it has weak or no activity for mono- and tri-methylated H3 ’Lys- 36’. May also recognize and bind to some phosphorylated proteins and promote their ubiquitination and degradation. Required to maintain the heterochromatic state. Associates with centromeres and represses transcription of small non-coding RNAs that are encoded by the clusters of satellite repeats at [...] (1162 aa) | |||
OBSCN | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (8678 aa) |