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DVL2 | dishevelled, dsh homolog 2 (Drosophila); Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes (By similarity) (736 aa) | |||
EIF3D | eukaryotic translation initiation factor 3, subunit D; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2-GTP-methionyl-tRNAi and eIF-5 to form the 43S preinitiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination riboso [...] (548 aa) | |||
PARD6A | par-6 partitioning defective 6 homolog alpha (C. elegans); Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (346 aa) | |||
RP1 | retinitis pigmentosa 1 (autosomal dominant); Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity) (2156 aa) | |||
PDLIM4 | PDZ and LIM domain 4 (330 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) | |||
DCLK2 | doublecortin-like kinase 2; Protein kinase with a significantly reduced C(a2+)/CAM affinity and dependence compared to other members of the CaMK family. May play a role in the down-regulation of CRE-dependent gene activation probably by phosphorylation of the CREB coactivator CRTC2/TORC2 and the resulting retention of TORC2 in the cytoplasm (By similarity) (783 aa) | |||
DVL3 | dishevelled, dsh homolog 3 (Drosophila); May play a role in the signal transduction pathway mediated by multiple Wnt genes (716 aa) | |||
PDLIM5 | PDZ and LIM domain 5; May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity) (596 aa) | |||
DCX | doublecortin; Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration (441 aa) | |||
PARD6G | par-6 partitioning defective 6 homolog gamma (C. elegans); Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP- bound Rho small GTPases to atypical protein kinase C proteins (By similarity) (376 aa) | |||
PDLIM7 | PDZ and LIM domain 7 (enigma); May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity) (457 aa) | |||
PDLIM1 | PDZ and LIM domain 1; Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (329 aa) | |||
PARD6B | par-6 partitioning defective 6 homolog beta (C. elegans); Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (372 aa) | |||
DCDC2 | doublecortin domain containing 2; May be involved in neuronal migration during development of the cerebral neocortex (By similarity) (476 aa) | |||
DVL1 | dishevelled, dsh homolog 1 (Drosophila); Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ) (670 aa) | |||
HIVEP1 | human immunodeficiency virus type I enhancer binding protein 1; This protein specifically binds to the DNA sequence 5’- GGGACTTTCC-3’ which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequ [...] (2718 aa) | |||
RP1L1 | retinitis pigmentosa 1-like 1; Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity) (2400 aa) | |||
CHEK2 | checkpoint kinase 2 (586 aa) | |||
DCDC2B | doublecortin domain containing 2B (349 aa) | |||
DCLK3 | doublecortin-like kinase 3 (648 aa) | |||
ENSG00000248235 | Uncharacterized protein (325 aa) | |||
LDB3 | LIM domain binding 3 (732 aa) | |||
DCDC2C | doublecortin domain containing 2C (298 aa) | |||
C9orf172 | chromosome 9 open reading frame 172 (976 aa) |