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USP28 | ubiquitin specific peptidase 28; Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome- acts by specifically interacting wit [...] (1077 aa) | |||
IFRD1 | interferon-related developmental regulator 1; Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By similarity) (451 aa) | |||
AHCY | adenosylhomocysteinase; Adenosylhomocysteine is a competitive inhibitor of S- adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine (432 aa) | |||
SF3A2 | 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 (464 aa) | |||
WDR77 | WD repeat domain 77; Non-catalytic component of the 20S PRMT5-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones. This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The 20S PRMT5-containing methyltransferase complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor [...] (342 aa) | |||
WDR83 | WD repeat domain 83; Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator (By similarity). [...] (315 aa) | |||
RBM39 | RNA binding motif protein 39; Transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1 (By similarity). May be involved in pre-mRNA splicing process (530 aa) | |||
THOC1 | THO complex 1; 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 complex [...] (657 aa) | |||
DHX8 | DEAH (Asp-Glu-Ala-His) box polypeptide 8; Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (1220 aa) | |||
COQ9 | coenzyme Q9 homolog (S. cerevisiae); Involved in the biosynthesis of coenzyme Q (By similarity) (318 aa) | |||
DARS | aspartyl-tRNA synthetase; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction- the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (501 aa) | |||
PDCD4 | programmed cell death 4 (neoplastic transformation inhibitor); Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A. Modulates the activation of JUN kinase. Down-regulates the expression of MAP4K1, thus inhibiting events important in driving invasion, namely, MAPK85 activation and consequent JUN-dependent transcription. May play a role in apoptosis. Tumor suppressor. Inhibits tumor promoter-induced neoplastic transformation. Binds RNA (By similarity) (469 aa) | |||
MAT2A | methionine adenosyltransferase II, alpha; Catalyzes the formation of S-adenosylmethionine from methionine and ATP (By similarity) (395 aa) | |||
U2AF2 | U2 small nuclear RNA auxiliary factor 2; Necessary for the splicing of pre-mRNA. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the splicing of MAPT/Tau exon 10 (475 aa) | |||
GEMIN2 | 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 (280 aa) | |||
AHCYL2 | adenosylhomocysteinase-like 2 (611 aa) | |||
EPRS | glutamyl-prolyl-tRNA synthetase (1512 aa) | |||
AHCYL1 | adenosylhomocysteinase-like 1 (530 aa) | |||
FRA10AC1 | fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (315 aa) | |||
MAT1A | methionine adenosyltransferase I, alpha; Catalyzes the formation of S-adenosylmethionine from methionine and ATP (By similarity) (395 aa) | |||
COMTD1 | catechol-O-methyltransferase domain containing 1; Putative O-methyltransferase (Potential) (262 aa) | |||
INIP | INTS3 and NABP interacting protein; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single- stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination- dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways (104 aa) | |||
IARS | isoleucyl-tRNA synthetase (1262 aa) | |||
RBM17 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia (401 aa) | |||
AIMP1 | aminoacyl tRNA synthetase complex-interacting multifunctional protein 1; Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity. Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation. Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels. Promotes dermal fibroblast proliferation and wound repair. Regulates KDELR1- mediated retention of HSP90 [...] (336 aa) | |||
PUF60 | poly-U binding splicing factor 60KDa; DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group [...] (559 aa) |