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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) | |||
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) | |||
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) | |||
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) | |||
NUP210 | nucleoporin 210kDa; Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity (1887 aa) | |||
TGS1 | trimethylguanosine synthase 1; Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation (853 aa) | |||
NUP133 | nucleoporin 133kDa; Involved in poly(A)+ RNA transport (1156 aa) | |||
NUP153 | nucleoporin 153kDa; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with TPR, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Mediates TPR anchoring to the nuclear membrane at NPC. The repeat- cont [...] (1475 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) | |||
GEMIN7 | gem (nuclear organelle) associated protein 7; The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus (131 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) | |||
RANBP2 | RAN binding protein 2; E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Could also have isomerase or chaperone activity and may bind RNA or DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at ’Lys-490’ which is essential for the proper assembly of PML-NB (3224 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) | |||
KPNB1 | karyopherin (importin) beta 1; Functions in nuclear protein import, either in association with an adapter protein, like an importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleopl [...] (876 aa) | |||
SNRPD1 | small nuclear ribonucleoprotein D1 polypeptide 16kDa; May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through nonspecific electrostatic contacts with RNA (119 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) | |||
GEMIN2 | gem (nuclear organelle) associated protein 2; The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus (280 aa) | |||
SNUPN | snurportin 1; Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs (360 aa) | |||
NUP93 | nucleoporin 93kDa; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor nucleoporins, but not NUP153 and TPR, to the NPC (819 aa) | |||
GEMIN4 | gem (nuclear organelle) associated protein 4; The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus (1058 aa) | |||
UBC | ubiquitin C (685 aa) | |||
TPR | translocated promoter region, nuclear basket protein; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalization in interphase, and in the mitotic spindle checkpoint signaling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates t [...] (2363 aa) | |||
NUP188 | nucleoporin 188kDa; May function as a component of the nuclear pore complex (NPC) (1749 aa) | |||
NUP160 | nucleoporin 160kDa; Involved in poly(A)+ RNA transport (1436 aa) | |||
RAN | RAN, member RAS oncogene family (216 aa) | |||
XPO1 | exportin 1 (CRM1 homolog, yeast); Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in its active GTP-bound form (Ran-GTP). Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) c [...] (1071 aa) |