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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) | |||
GCK | glucokinase (hexokinase 4); Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage (466 aa) | |||
NUP107 | nucleoporin 107kDa; 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 (925 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) | |||
NUP85 | nucleoporin 85kDa; Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP98/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2- activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl- inositol 3-kinase-Rac-lammellipodium protrusion cascade (656 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) | |||
NUPL2 | nucleoporin like 2; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope (423 aa) | |||
DHX38 | DEAH (Asp-Glu-Ala-His) box polypeptide 38; Probable ATP-binding RNA helicase involved in pre-mRNA splicing (1227 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) | |||
UPF3B | UPF3 regulator of nonsense transcripts homolog B (yeast); Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2- UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mR [...] (483 aa) | |||
GEMIN6 | gem (nuclear organelle) associated protein 6; The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus (167 aa) | |||
GEMIN5 | gem (nuclear organelle) associated protein 5; The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. GEMIN5 acts as the snRNA-binding protein of the SMN complex (1508 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) | |||
NUP35 | nucleoporin 35kDa; Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs). Can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC (326 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) | |||
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) | |||
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) | |||
UBC | ubiquitin C (685 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) | |||
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) | |||
NCBP1 | nuclear cap binding protein subunit 1, 80kDa; Component of the cap-binding complex (CBC), which binds cotranscriptionally to the 5’-cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5’-end of mRNA and to mRNA export in a 5’ to 3’ direction through the nuclear pore. T [...] (790 aa) | |||
ALYREF | Aly/REF export factor; 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 [...] (264 aa) | |||
EIF4E | eukaryotic translation initiation factor 4E; Its translation stimulation activity is repressed by binding to the complex CYFIP1-FMR1 (By similarity). Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structures. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates the binding to the mRNA cap (248 aa) |