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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) | |||
PKP2 | plakophilin 2; May play a role in junctional plaques (881 aa) | |||
FZD10 | frizzled family receptor 10; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both [...] (581 aa) | |||
FZD3 | frizzled family receptor 3; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both p [...] (666 aa) | |||
ARVCF | armadillo repeat gene deleted in velocardiofacial syndrome; Involved in protein-protein interactions at adherens junctions (962 aa) | |||
PKP1 | plakophilin 1 (ectodermal dysplasia/skin fragility syndrome); Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis (747 aa) | |||
FZD7 | frizzled family receptor 7; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both p [...] (574 aa) | |||
MYO1A | myosin IA; Involved in directing the movement of organelles along actin filaments (Potential) (1043 aa) | |||
CTNND2 | catenin (cadherin-associated protein), delta 2 (1225 aa) | |||
JUP | junction plakoglobin; Common junctional plaque protein. The membrane- associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhes [...] (745 aa) | |||
VGLL2 | vestigial like 2 (Drosophila); May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles (317 aa) | |||
PKP3 | plakophilin 3; May play a role in junctional plaques (797 aa) | |||
CTNNB1 | catenin (cadherin-associated protein), beta 1, 88kDa; Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation [...] (781 aa) | |||
FZD9 | frizzled family receptor 9 (591 aa) | |||
UCKL1 | uridine-cytidine kinase 1-like 1; May contribute to UTP accumulation needed for blast transformation and proliferation (548 aa) | |||
FZD6 | frizzled family receptor 6; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both p [...] (706 aa) | |||
FZD5 | frizzled family receptor 5; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both p [...] (585 aa) | |||
PCDH15 | protocadherin-related 15; Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function (1957 aa) | |||
MYO6 | myosin VI; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in [...] (1285 aa) | |||
UPRT | uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (309 aa) | |||
PKP4 | plakophilin 4; Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques (1192 aa) | |||
CDH23 | cadherin-related 23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (1114 aa) | |||
CTNND1 | catenin (cadherin-associated protein), delta 1 (968 aa) | |||
MYO7A | myosin VIIA; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphoge [...] (2215 aa) | |||
LYN | v-yes-1 Yamaguchi sarcoma viral related oncogene homolog; Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors and plays an important role in the regulation of innate and adaptive immune responses, hematopoiesis, responses to growth factors and cytokines, integrin signaling, but also responses to DNA damage and genotoxic agents. Functions primarily as negative regulator, but can also function as activator, depending on the context. Required for the initiation of the B-cell response, but also for its down- regulation and termination. Plays an important [...] (512 aa) | |||
FZD4 | frizzled family receptor 4; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (C [...] (537 aa) |