Your Input:
|
||||
USH1C | Usher syndrome 1C (autosomal recessive, severe); Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity) (899 aa) | |||
PSENEN | presenilin enhancer 2 homolog (C. elegans); Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity (101 aa) | |||
DLL4 | delta-like 4 (Drosophila); Plays a role in the Notch signaling pathway. Activates Notch-1 and Notch-4 (By similarity) (685 aa) | |||
JAG1 | jagged 1; Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro) (1218 aa) | |||
MIB1 | mindbomb E3 ubiquitin protein ligase 1 (1006 aa) | |||
APH1B | anterior pharynx defective 1 homolog B (C. elegans); Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A (257 aa) | |||
LNX1 | ligand of numb-protein X 1, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65 (By similarity) (728 aa) | |||
RPS27A | ribosomal protein S27a (156 aa) | |||
NOTCH1 | notch 1; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May be important for normal lymphocyte function. In altered form, may contribute to transformation or progression in some T-cell neoplasms. Involved in the maturation of both CD4+ and CD8+ c [...] (2555 aa) | |||
PDZD2 | PDZ domain containing 2 (2839 aa) | |||
LRGUK | leucine-rich repeats and guanylate kinase domain containing (825 aa) | |||
NCSTN | nicastrin; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). It probably represents a stabilizing cofactor required for the assembly of the gamma-secretase complex (709 aa) | |||
IL16 | interleukin 16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4 (1332 aa) | |||
UBB | ubiquitin B (229 aa) | |||
JAG2 | jagged 2; Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity) (1238 aa) | |||
UBC | ubiquitin C (685 aa) | |||
PARD3B | par-3 partitioning defective 3 homolog B (C. elegans); Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions (1143 aa) | |||
DLL1 | delta-like 1 (Drosophila); Acts as a ligand for Notch receptors. Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (723 aa) | |||
NEURL | neuralized homolog (Drosophila); May function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1, thereby regulating the Notch pathway (By similarity) (574 aa) | |||
NEURL1B | neuralized homolog 1B (Drosophila); E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands (555 aa) | |||
INADL | InaD-like (Drosophila) (1801 aa) | |||
DLG5 | discs, large homolog 5 (Drosophila) (1919 aa) | |||
NOTCH4 | notch 4 (2003 aa) | |||
CASK | calcium/calmodulin-dependent serine protein kinase (MAGUK family) (921 aa) | |||
MPDZ | multiple PDZ domain protein (2041 aa) | |||
UBA52 | ubiquitin A-52 residue ribosomal protein fusion product 1 (128 aa) |