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AAAS | achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system (546 aa) | |||
POLR2E | polymerase (RNA) II (DNA directed) polypeptide E, 25kDa; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the low [...] (210 aa) | |||
SNRPD3 | small nuclear ribonucleoprotein D3 polypeptide 18kDa; Appears to function in the U7 snRNP complex that is involved in histone 3’-end processing. Binds to the downstream cleavage product (DCP) of histone pre-mRNA in a U7 snRNP dependent manner (126 aa) | |||
PHF5A | PHD finger protein 5A; Acts as a transcriptional regulator by binding to the GJA1/Cx43 promoter and enhancing its up-regulation by ESR1/ER- alpha. Also involved in pre-mRNA splicing (110 aa) | |||
NUP155 | nucleoporin 155kDa; Essential component of nuclear pore complex. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport (By similarity) (1391 aa) | |||
CPSF3 | cleavage and polyadenylation specific factor 3, 73kDa; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3’-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as mRNA 3’-end-processing endonuclease. Also involved in the histone 3’-end pre-mRNA processing. U7 snRNP- dependent protein that induces both the 3’-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5’ to 3’ [...] (684 aa) | |||
SNRPA | small nuclear ribonucleoprotein polypeptide A; Binds stem loop II of U1 snRNA. It is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. Binds preferentially to the 5’-UGCAC-3’ motif in vitro (282 aa) | |||
SRSF6 | serine/arginine-rich splicing factor 6; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10 (344 aa) | |||
NUP85 | nucleoporin 85kDa; Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP98/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2- activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl- inositol 3-kinase-Rac-lammellipodium protrusion cascade (656 aa) | |||
SNRPB2 | small nuclear ribonucleoprotein polypeptide B; Involved in pre-mRNA splicing. This protein is associated with snRNP U2. It binds stem loop IV of U2 snRNA only in presence of the U2A’ protein (225 aa) | |||
SUGP1 | SURP and G patch domain containing 1; Plays a role in pre-mRNA splicing (645 aa) | |||
NUPL2 | nucleoporin like 2; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope (423 aa) | |||
SRSF1 | serine/arginine-rich splicing factor 1; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5’- and 3’-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5’-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5’-RGAAGAAC-3’ (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5’- CGAGGCG-3’ motif in vitro. Three copies of the octame [...] (248 aa) | |||
NUP133 | nucleoporin 133kDa; Involved in poly(A)+ RNA transport (1156 aa) | |||
SNRNP40 | small nuclear ribonucleoprotein 40kDa (U5); Component of the U5 small nuclear ribonucleoprotein (snRNP) complex. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs (357 aa) | |||
DNAJC8 | DnaJ (Hsp40) homolog, subfamily C, member 8 (253 aa) | |||
NUP54 | nucleoporin 54kDa; Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane (By similarity) (507 aa) | |||
CCAR1 | cell division cycle and apoptosis regulator 1 (1150 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) | |||
DHX38 | DEAH (Asp-Glu-Ala-His) box polypeptide 38; Probable ATP-binding RNA helicase involved in pre-mRNA splicing (1227 aa) | |||
TXNL4A | thioredoxin-like 4A; Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly (142 aa) | |||
SNRPG | small nuclear ribonucleoprotein polypeptide G; 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 (76 aa) | |||
POLR2D | polymerase (RNA) II (DNA directed) polypeptide D; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB4 is part of a subcomplex with RPB7 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex s [...] (142 aa) | |||
UPF3B | UPF3 regulator of nonsense transcripts homolog B (yeast); Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2- UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mR [...] (483 aa) | |||
NUP205 | nucleoporin 205kDa; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC (2012 aa) | |||
NFX1 | nuclear transcription factor, X-box binding 1; Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination (1120 aa) |