|
Your Input:
|
||||
| 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) | |||
| RAB38 | Ras-related protein Rab-38; May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays an important role in the control of melanin production and melanosome biogenesis. In concert with RAB32, regulates the proper trafficking of melanogenic enzyme [...] (211 aa) | |||
| SALL1 | Sal-like protein 1; Transcriptional repressor involved in organogenesis; Zinc fingers C2H2-type (1324 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) | |||
| 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) | |||
| SLC27A2 | Very long-chain acyl-CoA synthetase; Acyl-CoA synthetase probably involved in bile acid metabolism. Proposed to activate C27 precursors of bile acids to their CoA thioesters derivatives before side chain cleavage via peroxisomal beta-oxidation occurs. In vitro, activates 3-alpha,7- alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. Does not utilize C24 bile acids as substrates. In vitro, also activates long- and branched-chain fatty acids and may have additional roles in fatty acid metabolism. May [...] (620 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) | |||
| FUZ | Protein fuzzy homolog; Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity) (418 aa) | |||
| EEA1 | Early endosome antigen 1; Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking; Zinc fingers FYVE-type (1411 aa) | |||
| HPS1 | Hermansky-Pudlak syndrome 1 protein; Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (700 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) | |||
| HPS4 | Hermansky-Pudlak syndrome 4 protein; Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (708 aa) | |||
| ZBTB10 | Zinc finger and BTB domain-containing protein 10; May be involved in transcriptional regulation; BTB domain containing (871 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) | |||
| FAM208A | Protein TASOR; Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3; Belongs to the FAM208 family (1512 aa) | |||
| AMBRA1 | Activating molecule in BECN1-regulated autophagy protein 1; Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity); DDB1 and CUL4 associated factors (1238 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) | |||
| WBSCR16 | RCC1-like G exchanging factor-like protein; Williams-Beuren syndrome chromosome region 16 (464 aa) | |||
| SALL2 | Sal-like protein 2; Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure; Zinc fingers C2H2-type (1007 aa) | |||
