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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) | |||
ACVR1C | activin A receptor, type IC; Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis (493 aa) | |||
DCLK1 | doublecortin-like kinase 1; Probable kinase that may be involved in a calcium- signaling pathway controlling neuronal migration in the developing brain. May also participate in functions of the mature nervous system (729 aa) | |||
NOTCH2 | notch 2 (2471 aa) | |||
CFC1 | cripto, FRL-1, cryptic family 1; NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation (223 aa) | |||
HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 (909 aa) | |||
NOTCH3 | notch 3; 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 (By similarity) (2321 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) | |||
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) | |||
TDGF1 | teratocarcinoma-derived growth factor 1; Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm. Activates the Nodal-dependent signaling pathway (188 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) | |||
SLC9A9 | solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9; May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell (645 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) | |||
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) | |||
SLC9A6 | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 (701 aa) | |||
INADL | InaD-like (Drosophila) (1801 aa) | |||
DLG5 | discs, large homolog 5 (Drosophila) (1919 aa) | |||
NOTCH4 | notch 4 (2003 aa) | |||
UBR4 | ubiquitin protein ligase E3 component n-recognin 4 (5183 aa) | |||
CASK | calcium/calmodulin-dependent serine protein kinase (MAGUK family) (921 aa) | |||
CER1 | cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis); Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the primitive streak (By similarity) (267 aa) | |||
MPDZ | multiple PDZ domain protein (2041 aa) | |||
TNRC6B | trinucleotide repeat containing 6B; Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes (1833 aa) | |||
ACVR1B | activin A receptor, type IB; Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocri [...] (546 aa) |