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BUD31 | BUD31 homolog (S. cerevisiae) (144 aa) | |||
MRPL27 | mitochondrial ribosomal protein L27 (148 aa) | |||
PRPF19 | PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae); Plays a role in DNA double-strand break (DSB) repair. Binds double-stranded DNA in a sequence-nonspecific manner. Acts as a structural component of the nuclear framework. May also serve as a support for spliceosome binding and activity. Essential for spliceosome assembly in a oligomerization-dependent manner and might also be important for spliceosome stability. May have E3 ubiquitin ligase activity. The PSO4 complex is required in the DNA interstrand cross-links (ICLs) repair process. Component of the PRP19-CDC5L comple [...] (504 aa) | |||
SBDS | Shwachman-Bodian-Diamond syndrome; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell prol [...] (250 aa) | |||
SNW1 | SNW domain containing 1; Involved in transcriptional regulation. Modulates TGF- beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1- mediated transcriptional repression, and retinoid-X receptor (RXR)- and vitamin D receptor (VDR)-dependent gene transcription in a cell line-specific manner probably involving coactivators NCOA1 and GRIP1. Is involved in NOTCH1-mediated transcriptional activation. Binds to multimerized forms of Notch intracellular domain (NICD) and is proposed to recruit transcriptional coactivators [...] (536 aa) | |||
DHX8 | DEAH (Asp-Glu-Ala-His) box polypeptide 8; Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (1220 aa) | |||
SNRPF | small nuclear ribonucleoprotein polypeptide F; Appears to function in the U7 snRNP complex that is involved in histone 3’-end processing. Associated with snRNP U1, U2, U4/U6 and U5 (86 aa) | |||
EFTUD1 | elongation factor Tu GTP binding domain containing 1; Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits (1120 aa) | |||
MRPL17 | mitochondrial ribosomal protein L17 (175 aa) | |||
MRPL33 | mitochondrial ribosomal protein L33 (65 aa) | |||
PRPF8 | PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae); Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5’ and the 3’ splice site (2335 aa) | |||
CDC40 | cell division cycle 40 homolog (S. cerevisiae); Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing (579 aa) | |||
SF3B1 | splicing factor 3b, subunit 1, 155kDa; Subunit of the splicing factor SF3B 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. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron (1304 aa) | |||
RPLP0 | ribosomal protein, large, P0; Ribosomal protein P0 is the functional equivalent of E.coli protein L10 (By similarity) (317 aa) | |||
RPL3 | ribosomal protein L3; The L3 protein is a component of the large subunit of cytoplasmic ribosomes (403 aa) | |||
RPL9 | ribosomal protein L9 (192 aa) | |||
XAB2 | XPA binding protein 2; Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing (855 aa) | |||
RPL5 | ribosomal protein L5; Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA (297 aa) | |||
PPIE | peptidylprolyl isomerase E (cyclophilin E); PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity) (314 aa) | |||
EIF6 | eukaryotic translation initiation factor 6; Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. May behave as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (GNB2L1)-dependent protein kinase C activity (245 aa) | |||
CRNKL1 | crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (848 aa) | |||
RPL24 | ribosomal protein L24 (157 aa) | |||
CWC22 | CWC22 spliceosome-associated protein homolog (S. cerevisiae); May be involved in pre-mRNA splicing (908 aa) | |||
UBA52 | ubiquitin A-52 residue ribosomal protein fusion product 1 (128 aa) | |||
RPL23A | ribosomal protein L23a; This protein binds to a specific region on the 26S rRNA (By similarity) (156 aa) | |||
PLRG1 | pleiotropic regulator 1; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (By similarity) (514 aa) |