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| MAPK1 | Mitogen-activated protein kinase 1; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] (360 aa) | |||
| RTDR1 | Radial spoke head 14 homolog; Rhabdoid tumor deletion region gene 1; Belongs to the flagellar radial spoke RSP14 family (348 aa) | |||
| NEK9 | Serine/threonine-protein kinase Nek9; Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively; Belongs to the protein kinase superfamily. NEK Ser/Thr protein k [...] (979 aa) | |||
| HERC2 | E3 ubiquitin-protein ligase HERC2; E3 ubiquitin-protein ligase that regulates ubiquitin- dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of ’Lys-63’-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscill [...] (4834 aa) | |||
| INVS | Inversin; Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be str [...] (1065 aa) | |||
| MAPK3 | Mitogen-activated protein kinase 3; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] (379 aa) | |||
| ALS2 | Alsin; May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity); Rho guanine nucleotide exchange factors (1657 aa) | |||
| SERGEF | Secretion-regulating guanine nucleotide exchange factor; Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process (458 aa) | |||
| NEK8 | Serine/threonine-protein kinase Nek8; Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (By similarity). Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway (692 aa) | |||
| ANKS6 | Ankyrin repeat and SAM domain-containing protein 6; Required for renal function; Ankyrin repeat domain containing (871 aa) | |||
| ANKS3 | Ankyrin repeat and sterile alpha motif domain containing 3 (656 aa) | |||
| IBTK | Inhibitor of Bruton tyrosine kinase; Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription; Ankyrin repeat domain containing (1353 aa) | |||
| EEA1 | Early endosome antigen 1; Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking; Zinc fingers FYVE-type (1411 aa) | |||
| NEK7 | Serine/threonine-protein kinase Nek7; Protein kinase which plays an important role in mitotic cell cycle progression. Required for microtubule nucleation activity of the centrosome, robust mitotic spindle formation and cytokinesis. Phosphorylates RPS6KB1 (302 aa) | |||
| NEK6 | Serine/threonine-protein kinase Nek6; Protein kinase which plays an important role in mitotic cell cycle progression. Required for chromosome segregation at metaphase-anaphase transition, robust mitotic spindle formation and cytokinesis. Phosphorylates ATF4, CIR1, PTN, RAD26L, RBBP6, RPS7, RPS6KB1, TRIP4, STAT3 and histones H1 and H3. Phosphorylates KIF11 to promote mitotic spindle formation. Involved in G2/M phase cell cycle arrest induced by DNA damage. Inhibition of activity results in apoptosis. May contribute to tumorigenesis by suppressing p53/TP53-induced cancer cell senescence; [...] (347 aa) | |||
| RCC1 | Regulator of chromosome condensation; Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP. Involved in the regulation of onset of chromosome condensation in the S phase. Binds both to the nucleosomes and double-stranded DNA. RCC1-Ran complex (together with other proteins) acts as a component of a signal transmission pathway that detects unreplicated DNA. Plays a key role in nucleo- cytoplasmic transport, mitosis and nuclear-envelope assembly (452 aa) | |||
| RCC2 | Protein RCC2; Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor for the small GTPase RAC1 (522 aa) | |||
| RCBTB1 | RCC1 and BTB domain-containing protein 1; May be involved in cell cycle regulation by chromatin remodeling; BTB domain containing (531 aa) | |||
| RPGR | X-linked retinitis pigmentosa GTPase regulator; Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia (1152 aa) | |||
| ZZEF1 | Zinc finger ZZ-type and EF-hand domain containing 1 (2961 aa) | |||
| RCCD1 | RCC1 domain-containing protein 1; Acts as a coregulator of KDM8 to promote histone demethylase activity on di- and trimethylated ’Lys-36’ (H3K36me2/me3) of histone H3. Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with KDM8. Possibly together with KDM8, involved in proper mitotic spindle organization and chromosome segregation. Plays a role in regulating alpha- tubulin deacetylation and cytoskeletal microtubule stability and thereby promoting cell migration and TGF-beta-induced epithelial [...] (376 aa) | |||
| RCBTB2 | RCC1 and BTB domain containing protein 2 (556 aa) | |||
| HERC1 | Probable E3 ubiquitin-protein ligase HERC1; Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin- protein ligase which accepts ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates; WD repeat domain containing (4861 aa) | |||
| HECTD4 | Probable E3 ubiquitin-protein ligase HECTD4; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (4284 aa) | |||
| TRIM69 | E3 ubiquitin-protein ligase TRIM69; May have E3 ubiquitin-protein ligase activity. May play a role in apoptosis; Ring finger proteins (500 aa) | |||
| WBSCR16 | RCC1-like G exchanging factor-like protein; Williams-Beuren syndrome chromosome region 16 (464 aa) | |||
