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

cleavage and polyadenylation specific factor 3, 73kDa; 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’ to 3’ [...]

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

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

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 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

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

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

ubiquitin C

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

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

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

cleavage and polyadenylation specific factor 3, 73kDa; 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’ to 3’ [...]

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

heterogeneous nuclear ribonucleoprotein L; This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Is associated with most nascent transcripts including those of the landmark giant loops of amphibian lampbrush chromosomes. Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae); Binds to the 5’-stem-loop of U4 snRNA and may play a role in the late stage of spliceosome assembly. The protein undergoes a conformational change upon RNA-binding

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

poly(A) binding protein, nuclear 1; Involved in the 3’-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcripti [...]

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

poly(A) polymerase alpha; Polymerase that creates the 3’-poly(A) tail of mRNA’s. Also required for the endoribonucleolytic cleavage reaction at some polyadenylation sites. May acquire specificity through interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C-terminus

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

PHD finger protein 5A; Acts as a transcriptional regulator by binding to the GJA1/Cx43 promoter and enhancing its up-regulation by ESR1/ER- alpha. Also involved in pre-mRNA splicing

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

polymerase (RNA) II (DNA directed) polypeptide C, 33kDa; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB3 is part of the core element with the central large cleft and the clamp element that moves to open and close the cleft (By similarity)

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

polymerase (RNA) II (DNA directed) polypeptide E, 25kDa; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the low [...]

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity)

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

splicing factor 3a, subunit 1, 120kDa; Subunit of the splicing factor SF3A required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

splicing factor 3a, subunit 2, 66kDa; Subunit of the splicing factor SF3A required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex

cleavage and polyadenylation factor I subunit 1; Polynucleotide kinase that can phosphorylate the 5’- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double stranded DNA (dsDNA) and double-stranded DNA-RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA-RNA hybrid is phosphorylated more efficiently than the DNA component. Appears to have roles in both tRNA splicing and mRNA 3’-end formation. Component of the tRNA splicing endonuclease complex. Phosphorylates the 5’-terminus of the tRNA 3’-exon during tRNA splicin [...]

Pre-mRNA branch site protein p14 ; Necessary for the splicing of pre-mRNA. Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing. Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch sites of U2 and U12 respectively