Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Protein argonaute-2; Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The ’minimal RISC’ appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the [...]

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

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 [...]

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

ATP-dependent RNA helicase DDX39A; Isoform 1- Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus; Belongs to the DEAD box helicase family. DECD subfamily

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

UAP56-interacting factor; Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Glucokinase; 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

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Importin subunit 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 nucleoplasmic [...]

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Serine/threonine-protein kinase Nek9; Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively; Belongs to the protein kinase superfamily. NEK Ser/Thr protein k [...]

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

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

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Nuclear pore complex protein Nup153; 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. [...]

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

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

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Nuclear pore membrane glycoprotein 210; Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity; Nucleoporins

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Nuclear pore complex protein Nup85; 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 NUP96/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; Nucl [...]

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Nuclear envelope pore membrane protein POM 121C; Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL); Belongs to the POM121 family

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Nucleoporin SEH1; 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. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore; Belongs to the WD repeat SEC13 family

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

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

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Serine/arginine-rich splicing factor 6; Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing; Belongs to the splicing factor SR family

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

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; Belongs to the splicing factor SR family

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

Symplekin; Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA 3’-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house- keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity; Belongs to the Symplekin family

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins

THO complex subunit 2; Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX 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 to the cyt [...]

Protein argonaute-2; Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The ’minimal RISC’ appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the [...]

Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins