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M6PR | Cation-dependent mannose-6-phosphate receptor; Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex; MRH domain containing (277 aa) | |||
GPKOW | G-patch domain and KOW motifs (476 aa) | |||
AQR | Intron-binding protein aquarius; Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing; Belongs to the CWF11 family (1485 aa) | |||
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) | |||
AAAS | Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins (546 aa) | |||
SNRPD3 | Small nuclear ribonucleoprotein Sm D3; 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 (126 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) | |||
PABPN1 | Polyadenylate-binding protein 2; Involved in the 3’-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense- mediated decay (NMD) of mRNA. Cooperates with SKIP to syner [...] (306 aa) | |||
CSTF1 | Cleavage stimulation factor subunit 1; One of the multiple factors required for polyadenylation and 3’-end cleavage of mammalian pre-mRNAs. May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA (431 aa) | |||
BLOC1S6 | Biogenesis of lysosome-related organelles complex 1 subunit 6; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particular [...] (172 aa) | |||
HNRNPL | Heterogeneous nuclear ribonucleoprotein L; Splicing factor binding to exonic or intronic sites and acting as either an activator or repressor of exon inclusion. Exhibits a binding preference for CA-rich elements. Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts. Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter; RNA binding motif containing (589 aa) | |||
POLR2I | DNA-directed RNA polymerase II subunit RPB9; 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. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity) (125 aa) | |||
DNASE2 | Deoxyribonuclease-2-alpha; Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells; Belongs to the DNase II family (360 aa) | |||
RAB3A | Ras-related protein Rab-3A; Involved in exocytosis by regulating a late step in synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal; RAB, member RAS oncogene GTPases (220 aa) | |||
STX1A | Syntaxin-1A; Plays a role in hormone and neurotransmitter exocytosis (By similarity). Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)- regulation of exocytosis acrosomal reaction in sperm; Syntaxins (288 aa) | |||
CPD | M14 carboxypeptidases (1380 aa) | |||
NUP107 | Nuclear pore complex protein Nup107; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Required for the assembly of peripheral proteins into the NPC. May anchor NUP62 to the NPC; Belongs to the nucleoporin Nup84/Nup107 family (925 aa) | |||
NUP155 | Nuclear pore complex protein Nup155; Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport (1391 aa) | |||
SF3B6 | Splicing factor 3B subunit 6; 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. Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing. Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch si [...] (125 aa) | |||
SYF2 | Pre-mRNA-splicing factor SYF2; May be involved in pre-mRNA splicing; Belongs to the SYF2 family (243 aa) | |||
CPSF3 | Cleavage and polyadenylation specificity factor subunit 3; 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’ t [...] (684 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) | |||
DNAJC6 | Putative tyrosine-protein phosphatase auxilin; Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin-mediated endocytosis in neurons (By similarity); C2 tensin-type domain containing (970 aa) | |||
CDC5L | Cell division cycle 5-like protein; DNA-binding protein involved in cell cycle control. May act as a transcription activator. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR); Myb/SANT domain containing (802 aa) | |||
HSPA8 | Heat shock cognate 71 kDa protein; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis a [...] (646 aa) | |||
CWC15 | Spliceosome-associated protein CWC15 homolog; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing (229 aa) |