achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20; The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

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

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

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

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

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

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

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 [...]

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

nucleoporin 155kDa; Essential component of nuclear pore complex. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport (By similarity)

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

nucleoporin 160kDa; Involved in poly(A)+ RNA transport

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

nucleoporin 210kDa; Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

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

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

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

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

nucleoporin 43kDa; 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

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

nucleoporin 54kDa; Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane (By similarity)

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

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

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

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

achalasia, adrenocortical insufficiency, alacrimia; Plays a role in the normal development of the peripheral and central nervous system

phosphorylated adaptor for RNA export; A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import [...]

chloride channel, nucleotide-sensitive, 1A; The interaction with Sm proteins inhibits their assembly on U RNA and interferes with snRNP biogenesis. Inhibits the binding of survival motor neuron protein (SMN) to Sm proteins. May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20; The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs

chloride channel, nucleotide-sensitive, 1A; The interaction with Sm proteins inhibits their assembly on U RNA and interferes with snRNP biogenesis. Inhibits the binding of survival motor neuron protein (SMN) to Sm proteins. May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway

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

chloride channel, nucleotide-sensitive, 1A; The interaction with Sm proteins inhibits their assembly on U RNA and interferes with snRNP biogenesis. Inhibits the binding of survival motor neuron protein (SMN) to Sm proteins. May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway

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

chloride channel, nucleotide-sensitive, 1A; The interaction with Sm proteins inhibits their assembly on U RNA and interferes with snRNP biogenesis. Inhibits the binding of survival motor neuron protein (SMN) to Sm proteins. May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway

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

chloride channel, nucleotide-sensitive, 1A; The interaction with Sm proteins inhibits their assembly on U RNA and interferes with snRNP biogenesis. Inhibits the binding of survival motor neuron protein (SMN) to Sm proteins. May participate in cellular volume control by activation of a swelling-induced chloride conductance pathway

protein arginine methyltransferase 5; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Methylates SUPT5H. Mono- and dimethylates arginine residues of myelin basic protein (MBP) in vitro. Plays a role in the assembly of [...]