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GPKOW | G patch domain and KOW motifs (476 aa) | |||
SF3A1 | splicing factor 3a, subunit 1, 120kDa; 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 (793 aa) | |||
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) | |||
DDX5 | DEAD (Asp-Glu-Ala-Asp) box helicase 5; Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for estrogen receptor ESR1 and androgen receptor AR. Increases ESR1 AF-1 domain-mediated transactivation a [...] (614 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) | |||
MAPK14 | mitogen-activated protein kinase 14; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are a [...] (360 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) | |||
SNRPC | small nuclear ribonucleoprotein polypeptide C; Component of the U1 snRNP, which is essential for recognition of the pre-mRNA 5’ splice-site and the subsequent assembly of the spliceosome. U1-C is directly involved in initial 5’ splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5’ splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates E complex formation by stabilizing the base pairing of the 5’ end of the U1 snRNA and the 5’ splice-site region (159 aa) | |||
SUGP1 | SURP and G patch domain containing 1; Plays a role in pre-mRNA splicing (645 aa) | |||
SUB1 | SUB1 homolog (S. cerevisiae); General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA) (127 aa) | |||
CCAR1 | cell division cycle and apoptosis regulator 1 (1150 aa) | |||
DHX38 | DEAH (Asp-Glu-Ala-His) box polypeptide 38; Probable ATP-binding RNA helicase involved in pre-mRNA splicing (1227 aa) | |||
PRCC | papillary renal cell carcinoma (translocation-associated); May regulate cell cycle progression through interaction with MAD2L2 (491 aa) | |||
SF3B4 | splicing factor 3b, subunit 4, 49kDa (424 aa) | |||
U2AF1 | U2 small nuclear RNA auxiliary factor 1; Plays a critical role in both constitutive and enhancer- dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3’-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron (240 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) | |||
RBM4 | RNA binding motif protein 4; RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of pre-mRNA and translation regulation. Modulates alternative 5’-splice site and exon selection. Acts as a muscle cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs. Required for the translational acti [...] (364 aa) | |||
DHX15 | DEAH (Asp-Glu-Ala-His) box polypeptide 15; Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA (By similarity) (795 aa) | |||
HNRNPH1 | heterogeneous nuclear ribonucleoprotein H1 (H); This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG) (449 aa) | |||
GTF2B | general transcription factor IIB; General factor that plays a major role in the activation of eukaryotic genes transcribed by RNA polymerase II (316 aa) | |||
HNRNPH2 | heterogeneous nuclear ribonucleoprotein H2 (H’); This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG) (449 aa) | |||
HNRNPK | heterogeneous nuclear ribonucleoprotein K; One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single- stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction (By similarity). As far as transcription [...] (464 aa) | |||
HRH2 | histamine receptor H2; The H2 subclass of histamine receptors mediates gastric acid secretion. Also appears to regulate gastrointestinal motility and intestinal secretion. Possible role in regulating cell growth and differentiation. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and, through a separate G protein-dependent mechanism, the phosphoinositide/protein kinase (PKC) signaling pathway (By similarity) (397 aa) | |||
SF1 | splicing factor 1 (673 aa) | |||
RBM10 | RNA binding motif protein 10; May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity) (930 aa) | |||
PTBP2 | polypyrimidine tract binding protein 2; RNA-binding protein which binds to intronic polypyrimidine tracts and mediates negative regulation of exons splicing. May antagonize in a tissue-specific manner the ability of NOVA1 to activate exon selection. Beside its function in pre- mRNA splicing, plays also a role in the regulation of translation. Isoform 5 has a reduced affinity for RNA (531 aa) |