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| ABCG2 | ATP-binding cassette sub-family G member 2; High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs a [...] (655 aa) | |||
| CHRNA10 | Neuronal acetylcholine receptor subunit alpha-10; Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducin [...] (450 aa) | |||
| CHRND | Acetylcholine receptor subunit delta; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily (517 aa) | |||
| HTR3B | 5-hydroxytryptamine receptor 3B; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel; 5-hydroxytryptamine receptors, ionotropic (441 aa) | |||
| CHRNA1 | Acetylcholine receptor subunit alpha; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits (482 aa) | |||
| CHRNB4 | Neuronal acetylcholine receptor subunit beta-4; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 4/CHRNB4 sub-subfamily (498 aa) | |||
| CFAP20 | Cilia- and flagella-associated protein 20; Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia. Required for axonemal microtubules polyglutamylation (193 aa) | |||
| NEIL3 | Endonuclease 8-like 3; DNA glycosylase which prefers single-stranded DNA (ssDNA), or partially ssDNA structures such as bubble and fork structures, to double-stranded DNA (dsDNA). In vitro, displays strong glycosylase activity towards the hydantoin lesions spiroiminodihydantoin (Sp) and guanidinohydantoin (Gh) in both ssDNA and dsDNA; also recognizes FapyA, FapyG, 5-OHU, 5-OHC, 5- OHMH, Tg and 8-oxoA lesions in ssDNA. No activity on 8-oxoG detected. Also shows weak DNA-(apurinic or apyrimidinic site) lyase activity. In vivo, appears to be the primary enzyme involved in removing Sp and [...] (605 aa) | |||
| CHRNA6 | Neuronal acetylcholine receptor subunit alpha-6; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 6/CHRNA6 sub-subfamily (494 aa) | |||
| TSEN2 | tRNA-splicing endonuclease subunit Sen2; Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5’- and 3’-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2’,3’-cyclic phosphate and 5’-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural [...] (465 aa) | |||
| CHRNB3 | Neuronal acetylcholine receptor subunit beta-3; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits (458 aa) | |||
| CHRNE | Acetylcholine receptor subunit epsilon; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits (493 aa) | |||
| CAPN13 | Calpain-13; Probable non-lysosomal thiol-protease; Calpains (669 aa) | |||
| CHRNA5 | Neuronal acetylcholine receptor subunit alpha-5; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits (468 aa) | |||
| CHRNB1 | Acetylcholine receptor subunit beta; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 1/CHRNB1 sub-subfamily (501 aa) | |||
| CHRNA3 | Neuronal acetylcholine receptor subunit alpha-3; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits (505 aa) | |||
| SRRM1 | Serine/arginine repetitive matrix protein 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 lo [...] (904 aa) | |||
| NKAPL | NKAP-like protein; Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis (402 aa) | |||
| CHRNB2 | Neuronal acetylcholine receptor subunit beta-2; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions; Cholinergic receptors nicotinic subunits (502 aa) | |||
| CHRNA4 | Neuronal acetylcholine receptor subunit alpha-4; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions; Cholinergic receptors nicotinic subunits (627 aa) | |||
| NKAP | NF-kappa-B-activating protein; Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter; Belongs to the NKAP family (415 aa) | |||
| EAF1 | ELL-associated factor 1; Acts as a transcriptional transactivator of ELL and ELL2 elongation activities; Belongs to the EAF family (268 aa) | |||
| CHRNA2 | Neuronal acetylcholine receptor subunit alpha-2; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits (529 aa) | |||
| RBM17 | Splicing factor 45; 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; G-patch domain containing (401 aa) | |||
| CLP1 | Polyribonucleotide 5’-hydroxyl-kinase Clp1; 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. Plays a key role 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 splicing; this ph [...] (425 aa) | |||
| SFSWAP | Splicing factor, suppressor of white-apricot homolog; Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicing factors. Represses the splicing of MAPT/Tau exon 10 (1003 aa) | |||
