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RBM22 | Pre-mRNA-splicing factor RBM22; Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem-loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5’ splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses; Belongs to the SLT11 family (420 aa) | |||
PHF5A | PHD finger-like domain-containing protein 5A; Involved with the PAF1 complex (PAF1C) in transcriptional elongation by RNA polymerase II, and in regulation of development and maintenance of embryonic stem cell (ESC) pluripotency. Required for maintenance of ESCs self-renewal and cellular reprogramming of stem cells. Maintains pluripotency by recruiting and stabilizing PAF1C on pluripotency genes loci, and by regulating the expression of the pluripotency genes. Regulates the deposition of elongation-associated histone modifications, including dimethylated histone H3 ’Lys-79’ (H3K79me2) a [...] (110 aa) | |||
POLE2 | DNA polymerase epsilon subunit 2; Participates in DNA repair and in chromosomal DNA replication (527 aa) | |||
SIX4 | Homeobox protein SIX4; Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a DNA sequence on these target genes and is involved in processes like cell differentiation, cell migration and cell survival. Transactivates gene expression by binding a 5’-[CAT]A[CT][CT][CTG]GA[GAT]-3’ motif present in the Trex site and a 5’-TCA[AG][AG]TTNC-3’ motif present in the MEF3 site of the muscle-specific genes enhancer. Acts cooperatively with EYA proteins to transactivate their target genes through interaction and nuclear translocation of EYA protein. [...] (781 aa) | |||
PRPF19 | Pre-mRNA-processing factor 19; Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates ’Lys-63’-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex. Recruite [...] (504 aa) | |||
LSM8 | U6 snRNA-associated Sm-like protein LSm8; Binds specifically to the 3’-terminal U-tract of U6 snRNA and is probably a component of the spliceosome; Belongs to the snRNP Sm proteins family (96 aa) | |||
LSM7 | U6 snRNA-associated Sm-like protein LSm7; Binds specifically to the 3’-terminal U-tract of U6 snRNA and is probably a component of the spliceosome; Belongs to the snRNP Sm proteins family (103 aa) | |||
PRPF38A | Pre-mRNA-splicing factor 38A; May be required for pre-mRNA splicing; Belongs to the PRP38 family (312 aa) | |||
SNW1 | SNW domain-containing protein 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 coac [...] (536 aa) | |||
RBM25 | RNA-binding protein 25; RNA-binding protein that acts as a regulator of alternative pre-mRNA splicing. Involved in apoptotic cell death through the regulation of the apoptotic factor BCL2L1 isoform expression. Modulates the ratio of proapoptotic BCL2L1 isoform S to antiapoptotic BCL2L1 isoform L mRNA expression. When overexpressed, stimulates proapoptotic BCL2L1 isoform S 5’-splice site (5’-ss) selection, whereas its depletion caused the accumulation of antiapoptotic BCL2L1 isoform L. Promotes BCL2L1 isoform S 5’-ss usage through the 5’-CGGGCA-3’ RNA sequence. Its association with LUC7 [...] (843 aa) | |||
SNRPF | Small nuclear ribonucleoprotein F; Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3’-end processing (86 aa) | |||
LRRC46 | Leucine-rich repeat-containing protein 46; Leucine rich repeat containing 46 (321 aa) | |||
SNRPG | Small nuclear ribonucleoprotein G; Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. Appears to function in the U7 snRNP complex that is involved in histone 3’-end processing (76 aa) | |||
ZMAT2 | Zinc finger matrin-type 2; Spliceosomal B complex (199 aa) | |||
TBC1D2B | TBC1 domain family member 2B; May act as a GTPase-activating protein (963 aa) | |||
LSM3 | U6 snRNA-associated Sm-like protein LSm3; Binds specifically to the 3’-terminal U-tract of U6 snRNA; Belongs to the snRNP Sm proteins family (102 aa) | |||
LPHN2 | Adhesion G protein-coupled receptor L2; Calcium-independent receptor of low affinity for alpha- latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor probably implicated in the regulation of exocytosis; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily (1403 aa) | |||
POLE | DNA polymerase epsilon catalytic subunit A; Participates in DNA repair and in chromosomal DNA replication; Belongs to the DNA polymerase type-B family (2286 aa) | |||
SF3B1 | Splicing factor 3B subunit 1; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is 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; Armadillo-like helical d [...] (1304 aa) | |||
LPHN1 | Adhesion G protein-coupled receptor L1; Calcium-independent receptor of high affinity for alpha- latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity) (1474 aa) | |||
SF3B5 | Splicing factor 3B subunit 5; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is 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 (86 aa) | |||
BCAS2 | Pre-mRNA-splicing factor SPF27; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR) (225 aa) | |||
PPP1R11 | Protein phosphatase 1 regulatory subunit 11; Inhibitor of protein phosphatase 1; Cilia and flagella associated (126 aa) | |||
PACS2 | Phosphofurin acidic cluster sorting protein 2; Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct [...] (904 aa) | |||
LPHN3 | Adhesion G protein-coupled receptor L3; Plays a role in cell-cell adhesion and neuron guidance via its interactions with FLRT2 and FLRT3 that are expressed at the surface of adjacent cells. Plays a role in the development of glutamatergic synapses in the cortex. Important in determining the connectivity rates between the principal neurons in the cortex; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily (1469 aa) | |||
PRPF40B | Pre-mRNA-processing factor 40 homolog B; May be involved in pre-mRNA splicing (892 aa) |