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MEF2B | myocyte enhancer factor 2B; Transcriptional activator which binds specifically to the MEF2 element, 5’-YTA[AT](4)TAR-3’, found in numerous muscle- specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription (368 aa) | |||
CLASRP | CLK4-associating serine/arginine rich protein; Probably functions as an alternative splicing regulator. May regulate the mRNA splicing of genes such as CLK1. May act by regulating members of the CLK kinase family (By similarity) (674 aa) | |||
DAZL | deleted in azoospermia-like; RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3’-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts (By similarity) (315 aa) | |||
ABCG5 | ATP-binding cassette, sub-family G (WHITE), member 5; Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (651 aa) | |||
RASA4 | RAS p21 protein activator 4; Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis (803 aa) | |||
SUB1 | SUB1 homolog (S. cerevisiae); General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA) (127 aa) | |||
SRF | serum response factor (c-fos serum response element-binding transcription factor); SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5’ of the site of transcription initiation of some genes (such as FOS). Required for cardiac differentiation and maturation (508 aa) | |||
MEF2D | myocyte enhancer factor 2D; Transcriptional activator which binds specifically to the MEF2 element, 5’-YTA[AT](4)TAR-3’, found in numerous muscle- specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity) (521 aa) | |||
ABCG8 | ATP-binding cassette, sub-family G (WHITE), member 8; Transporter that appears to play an indispensable role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (673 aa) | |||
SRRM2 | serine/arginine repetitive matrix 2 (2752 aa) | |||
ENSG00000170276 | Heat shock protein beta-2 (182 aa) | |||
POLR3D | polymerase (RNA) III (DNA directed) polypeptide D, 44kDa; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts [...] (398 aa) | |||
ABCG4 | ATP-binding cassette, sub-family G (WHITE), member 4; May be involved in macrophage lipid homeostasis (646 aa) | |||
AHCYL2 | adenosylhomocysteinase-like 2 (611 aa) | |||
CLK4 | CDC-like kinase 4; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates SRSF1 and SRSF3. Required for the regulation of alternative splicing of MAPT/TAU. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells (481 aa) | |||
MEF2C | myocyte enhancer factor 2C; Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle- specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platel [...] (483 aa) | |||
KPNA1 | karyopherin alpha 1 (importin alpha 5); Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. 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 side of the NPC, Ran binds to importin-beta and the three components separate and importin-alph [...] (538 aa) | |||
MEF2A | myocyte enhancer factor 2A (499 aa) | |||
UBL5 | ubiquitin-like 5 (73 aa) | |||
ABCG1 | ATP-binding cassette, sub-family G (WHITE), member 1 (678 aa) | |||
SRPK3 | SRSF protein kinase 3; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains. Phosphorylates the SR splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. Required for normal muscle development (By similarity) (567 aa) | |||
SRPK1 | SRSF protein kinase 1; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Plays a central role in the regulatory network for splicing, controlling the intranuclear distribution of splicing factors in interphase cells and the reorganization of nuclear speckles during mitosis. Can influence additional steps of mRNA maturation, as well as other cellular activiti [...] (655 aa) | |||
TRNAU1AP | tRNA selenocysteine 1 associated protein 1; Involved in the early steps of selenocysteine biosynthesis and tRNA(Sec) charging to the later steps resulting in the cotranslational incorporation of selenocysteine into selenoproteins. Stabilizes the SECISBP2, EEFSEC and tRNA(Sec) complex. May be involved in the methylation of tRNA(Sec). Enhances efficiency of selenoproteins synthesis (By similarity) (287 aa) | |||
HNRNPCL1 | heterogeneous nuclear ribonucleoprotein C-like 1; May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs (By similarity) (293 aa) | |||
SRPK2 | SRSF protein kinase 2; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Promotes neuronal apoptosis by up-regulating cyclin-D1 (CCND1) expression. This is done by the phosphorylation of SRSF2, leading to the suppression of p53/TP53 phosphorylation thereby relieving the repressive effect of p53/TP53 on cyclin-D1 (CCND1) expression. Phosphorylates ACIN1, and [...] (699 aa) | |||
DAZ4 | deleted in azoospermia 4; RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3’-UTR of mRNAs and regulating their translation (579 aa) |