Your Input:
|
||||
SF3A2 | splicing factor 3a, subunit 2, 66kDa; Subunit of the splicing factor SF3A required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex (464 aa) | |||
CTSD | cathepsin D; Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease (412 aa) | |||
PRPF38A | PRP38 pre-mRNA processing factor 38 (yeast) domain containing A; May be required for pre-mRNA splicing (Potential) (312 aa) | |||
LRP6 | low density lipoprotein receptor-related protein 6; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor- ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3- mediated phosphorylation and destruction o [...] (1613 aa) | |||
RBM25 | RNA binding motif protein 25 (843 aa) | |||
TCIRG1 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3; Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation (830 aa) | |||
WNT3A | wingless-type MMTV integration site family, member 3A; Ligand for members of the frizzled family of seven transmembrane receptors. Wnt-3 and Wnt-3a play distinct roles in cell-cell signaling during morphogenesis of the developing neural tube (352 aa) | |||
ATP6V0D2 | ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity) (350 aa) | |||
ATP6V0D1 | ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity) (351 aa) | |||
TMEM199 | transmembrane protein 199 (208 aa) | |||
TTC14 | tetratricopeptide repeat domain 14 (770 aa) | |||
U2AF2 | U2 small nuclear RNA auxiliary factor 2; Necessary for the splicing of pre-mRNA. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the splicing of MAPT/Tau exon 10 (475 aa) | |||
PRPF3 | PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (683 aa) | |||
ZCCHC10 | zinc finger, CCHC domain containing 10 (170 aa) | |||
VMA21 | VMA21 vacuolar H+-ATPase homolog (S. cerevisiae); Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum (101 aa) | |||
RBM23 | RNA binding motif protein 23; Probable RNA-binding protein. May be involved in pre- mRNA splicing process (439 aa) | |||
ATP6AP1 | ATPase, H+ transporting, lysosomal accessory protein 1; Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (By similarity) (470 aa) | |||
NKAP | NFKB activating protein; Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter (415 aa) | |||
FZD8 | frizzled family receptor 8; Receptor for Wnt proteins. Component of the Wnt-Fzd- LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome- sized signalosomes. The beta-catenin canonical signaling pathway leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it [...] (694 aa) | |||
ATP6AP2 | ATPase, H+ transporting, lysosomal accessory protein 2 (350 aa) | |||
ATP6AP1L | ATPase, H+ transporting, lysosomal accessory protein 1-like (224 aa) | |||
SAP18 | Sin3A-associated protein, 18kDa; Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent [...] (172 aa) | |||
SRPK2 | SRSF protein kinase 2; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Promotes neuronal apoptosis by up-regulating cyclin-D1 (CCND1) expression. This is done by the phosphorylation of SRSF2, leading to the suppression of p53/TP53 phosphorylation thereby relieving the repressive effect of p53/TP53 on cyclin-D1 (CCND1) expression. Phosphorylates ACIN1, and [...] (699 aa) | |||
PRPF40A | PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae); Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing (930 aa) | |||
CHERP | calcium homeostasis endoplasmic reticulum protein; Involved in calcium homeostasis, growth and proliferation (916 aa) | |||
SAP30BP | SAP30 binding protein; Induces cell death. May act as a transcriptional corepressor of a gene related to cell survival. May be involved in the regulation of beta-2-microglobulin genes (308 aa) |