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| ARHGEF5 | Rho guanine nucleotide exchange factor 5; Guanine nucleotide exchange factor which activates Rho GTPases. Strongly activates RHOA. Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization. Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia. Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration [...] (1597 aa) | |||
| PLOD3 | Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (738 aa) | |||
| NR3C1 | Glucocorticoid receptor; Isoform Alpha-D3- Has lowest transcriptional activation activity of all isoforms created by alternative initiation. Has transcriptional repression activity; Nuclear hormone receptors (778 aa) | |||
| TDRD1 | Tudor domain-containing protein 1; Plays a central role during spermatogenesis by participating in the repression transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Required for the localization of Piwi proteins to the meiotic nuage. Involved in the piRNA metabolic process by ensuring the entry of corr [...] (1189 aa) | |||
| RNF17 | RING finger protein 17; Seems to be involved in regulation of transcriptional activity of MYC. In vitro, inhibits DNA-binding activity of Mad- MAX heterodimers. Can recruit Mad transcriptional repressors (MXD1, MXD3, MXD4 and MXI1) to the cytoplasm. May be involved in spermiogenesis (By similarity); Ring finger proteins (1623 aa) | |||
| LMO2 | Rhombotin-2; Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state; LIM domain containing (227 aa) | |||
| COPE | Coatomer subunit epsilon; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP- ribosylation factors (ARFs), which are small GTP-binding proteins; the complex [...] (308 aa) | |||
| MID2 | Probable E3 ubiquitin-protein ligase MID2; May play a role in microtubule stabilization; Belongs to the TRIM/RBCC family (735 aa) | |||
| TOP1MT | DNA topoisomerase I, mitochondrial; Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3’-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5’-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, [...] (601 aa) | |||
| LMX1A | LIM homeobox transcription factor 1-alpha; Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity); LIM class homeoboxes (382 aa) | |||
| TDRD6 | Tudor domain-containing protein 6; Involved in spermiogenesis, chromatoid body formation and for proper precursor and mature miRNA expression; Tudor domain containing (2096 aa) | |||
| SND1 | Staphylococcal nuclease domain-containing protein 1; Functions as a bridging factor between STAT6 and the basal transcription factor. Plays a role in PIM1 regulation of MYB activity. Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2); Tudor domain containing (910 aa) | |||
| TDRD7 | Tudor domain-containing protein 7; Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes- probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis; Belongs to the TDRD7 family (1098 aa) | |||
| LMX1B | LIM homeobox transcription factor 1-beta; Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels; LIM class homeoboxes (406 aa) | |||
| CCDC135 | Dynein regulatory complex subunit 7; Key component of the nexin-dynein regulatory complex (N- DRC), essential for N-DRC integrity. Involved in the regulation of flagellar motility; Belongs to the DRC7 family (874 aa) | |||
| ZZZ3 | ZZ-type zinc finger-containing protein 3; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 (903 aa) | |||
| EFHC1 | EF-hand domain-containing protein 1; Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death; EF-hand domain containing (640 aa) | |||
| ARX | Homeobox protein ARX; Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate; Belongs to the paired homeobox family. Bicoid subfamily (562 aa) | |||
| SHOX | Short stature homeobox protein; Controls fundamental aspects of growth and development; Belongs to the paired homeobox family. Bicoid subfamily (292 aa) | |||
| TDRD15 | Tudor domain containing 15 (1934 aa) | |||
| EFHC2 | EF-hand domain-containing family member C2; EF-hand domain containing 2 (749 aa) | |||
| TDRD5 | Tudor domain-containing protein 5; Required during spermiogenesis to participate in the repression transposable elements and prevent their mobilization, which is essential for the germline integrity. Probably acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for chromatoid body (CB) assembly (By similarity); Tudor domain containing (1035 aa) | |||
| FAM107A | Protein FAM107A; When transfected into cell lines in which it is not expressed, suppresses cell growth. May play a role in tumor development (175 aa) | |||
| CLIC3 | Chloride intracellular channel protein 3; Can insert into membranes and form chloride ion channels. May participate in cellular growth control; Belongs to the chloride channel CLIC family (236 aa) | |||
| CACNB4 | Voltage-dependent L-type calcium channel subunit beta-4; The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting (520 aa) | |||
| CYFIP1 | Cytoplasmic FMR1-interacting protein 1; Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA (By similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the [...] (1253 aa) | |||
