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

cleavage and polyadenylation specific factor 2, 100kDa; 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. Involved in the histone 3’ end pre-mRNA processing

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

DEAH (Asp-Glu-Ala-His) box polypeptide 38; Probable ATP-binding RNA helicase involved in pre-mRNA splicing

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

nuclear cap binding protein subunit 2, 20kDa; Component of the cap-binding complex (CBC), which binds co-transcriptionally 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. [...]

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

nuclear transcription factor, X-box binding 1; Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination

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

nucleoporin 133kDa; 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 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 188kDa; May function as a component of the nuclear pore complex (NPC)

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 50kDa; Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin- alpha-beta-cargo complex and importin recycling. Interacts with multiple transport receptor proteins including CDKN1B. This interaction is required for correct intracellular transport and degradation of CDKN1B

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

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

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

nuclear RNA export factor 1; Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm. The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5

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 [...]

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

stem-loop binding protein; RNA-binding protein involved in the histone pre-mRNA processing. Binds the stem-loop structure of replication-dependent histone pre-mRNAs and contributes to efficient 3’-end processing by stabilizing the complex between histone pre-mRNA and U7 small nuclear ribonucleoprotein (snRNP), via the histone downstream element (HDE). Plays an important role in targeting mature histone mRNA from the nucleus to the cytoplasm and to the translation machinery. Stabilizes mature histone mRNA and could be involved in cell-cycle regulation of histone gene expression. Involve [...]

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

small nuclear ribonucleoprotein polypeptides B and B1; 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. May have a functional role in the pre-mRNA splicing or in snRNP structure. Binds to the downstream cleavage product (DCP) of histone pre-mRNA in a U7 snRNP dependent manner (By similarity)

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

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

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

serine/arginine repetitive matrix 1; Part of pre- and post-splicing multiprotein mRNP complexes. Involved in numerous pre-mRNA processing events. Promotes constitutive and exonic splicing enhancer (ESE)-dependent splicing activation by bridging together sequence-specific (SR family proteins, SFRS4, SFRS5 and TRA2B/SFRS10) and basal snRNP (SNRP70 and SNRPA1) factors of the spliceosome. Stimulates mRNA 3’-end cleavage independently of the formation of an exon junction complex. Binds both pre-mRNA and spliced mRNA 20-25 nt upstream of exon-exon junctions. Binds RNA and DNA with low sequen [...]

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

serine/arginine-rich splicing factor 1; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. 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. Can stimulate binding of U1 snRNP to a 5’-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5’-RGAAGAAC-3’ (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5’- CGAGGCG-3’ motif in vitro. Three copies of the octame [...]