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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) | |||
SRSF9 | serine/arginine-rich splicing factor 9; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10 (221 aa) | |||
DDX39A | DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A; Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus (427 aa) | |||
NUP37 | nucleoporin 37kDa; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation (326 aa) | |||
POLDIP3 | polymerase (DNA-directed), delta interacting protein 3 (421 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) | |||
CASC3 | cancer susceptibility candidate 3; 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 mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby influence [...] (703 aa) | |||
NUP54 | nucleoporin 54kDa; Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane (By similarity) (507 aa) | |||
THOC3 | THO complex 3; Component of the THO subcomplex of the TREX complex. The TREX complex specifically associates with spliced mRNA and not with unspliced pre-mRNA. It is recruited to spliced mRNAs by a transcription-independent mechanism. Binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export. The recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. DDX39B functions as a bridge between ALYREF/THOC4 and the THO complex [...] (351 aa) | |||
CPSF4 | cleavage and polyadenylation specific factor 4, 30kDa; 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. CPSF4 binds RNA polymers with a preference for poly(U) (269 aa) | |||
SLU7 | SLU7 splicing factor homolog (S. cerevisiae); Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3’- splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3’-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation (586 aa) | |||
CPSF2 | cleavage and polyadenylation specific factor 2, 100kDa; 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. Involved in the histone 3’ end pre-mRNA processing (782 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) | |||
NUP62 | nucleoporin 62kDa; Essential component of the nuclear pore complex. The N- terminal is probably involved in nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil formation and may function in anchorage of p62 to the pore complex (522 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) | |||
CSTF3 | cleavage stimulation factor, 3’ pre-RNA, subunit 3, 77kDa; One of the multiple factors required for polyadenylation and 3’-end cleavage of mammalian pre-mRNAs (717 aa) | |||
ZC3H11A | zinc finger CCCH-type containing 11A (810 aa) | |||
NUP43 | nucleoporin 43kDa; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation (380 aa) | |||
NUP50 | nucleoporin 50kDa; Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin- alpha-beta-cargo complex and importin recycling. Interacts with multiple transport receptor proteins including CDKN1B. This interaction is required for correct intracellular transport and degradation of CDKN1B (468 aa) | |||
NUP214 | nucleoporin 214kDa; May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (2090 aa) | |||
SRSF2 | serine/arginine-rich splicing factor 2; Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5’- and 3’-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre- mRNA. 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. Binds to purine-rich RNA sequences, either 5’-AGSAGAGTA-3’ (S=C or G) or [...] (221 aa) | |||
LUZP4 | leucine zipper protein 4 (313 aa) | |||
NUP188 | nucleoporin 188kDa; May function as a component of the nuclear pore complex (NPC) (1749 aa) | |||
SRSF3 | serine/arginine-rich splicing factor 3; May be involved in RNA processing in relation with cellular proliferation and/or maturation (164 aa) | |||
NUP88 | nucleoporin 88kDa; Essential component of nuclear pore complex (741 aa) |