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ADAMTS2 | A disintegrin and metalloproteinase with thrombospondin motifs 2; Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis; ADAM metallopeptidases with thrombospondin type 1 motif (1211 aa) | |||
SEMA6A | Semaphorin-6A; Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By similarity); Belongs to the sema [...] (1047 aa) | |||
WSB1 | WD repeat and SOCS box-containing protein 1; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation; WD repeat domain containing (421 aa) | |||
SPCS2 | Signal peptidase complex subunit 2; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (226 aa) | |||
WDR90 | WD repeat-containing protein 90; WD repeat domain containing (1748 aa) | |||
WDR49 | WD repeat-containing protein 49; WD repeat domain containing (697 aa) | |||
PAAF1 | Proteasomal ATPase-associated factor 1; Inhibits proteasome 26S assembly and proteolytic activity by impairing the association of the 19S regulatory complex with the 20S core. In case of HIV-1 infection, recruited by viral Tat to the HIV-1 promoter, where it promotes the recruitment of 19S regulatory complex through dissociation of the proteasome 26S. This presumably promotes provirus transcription efficiency. Protects SUPT6H from proteasomal degradation; WD repeat domain containing (392 aa) | |||
WDR5B | WD repeat-containing protein 5B; May function as a substrate receptor for CUL4-DDB1 ubiquitin E3 ligase complex; WD repeat domain containing (330 aa) | |||
WDR16 | Cilia- and flagella-associated protein 52; May play a role in cell growth and/or survival (620 aa) | |||
WDR88 | WD repeat-containing protein 88; WD repeat domain containing (472 aa) | |||
WDR5 | WD repeat-containing protein 5; Contributes to histone modification. May position the N- terminus of histone H3 for efficient trimethylation at ’Lys-4’. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at ’Lys-4’ of histone H3. H3 ’Lys-4’ methylation represents a specific tag for epigenetic transcriptional activation. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. May regulate osteoblasts differentiation; Belongs to the WD repeat WDR5/wds family (334 aa) | |||
AHI1 | Jouberin; Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation; WD repeat domain containing (1196 aa) | |||
ADAM30 | Disintegrin and metalloproteinase domain-containing protein 30; Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation; ADAM metallopeptidase domain containing (790 aa) | |||
MTF2 | Metal-response element-binding transcription factor 2; Polycomb group (PcG) that specifically binds histone H3 trimethylated at ’Lys-36’ (H3K36me3) and recruits the PRC2 complex. Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex, leading to enhance PRC2 H3K27me3 methylation activity. Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation. Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated [...] (593 aa) | |||
MUSK | Muscle, skeletal receptor tyrosine-protein kinase; Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskel [...] (869 aa) | |||
WDR13 | WD repeat-containing protein 13; WD repeat domain containing (485 aa) | |||
METTL7B | Methyltransferase-like protein 7B; Probable methyltransferase (244 aa) | |||
WSB2 | WD repeat and SOCS box-containing protein 2; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; WD repeat domain containing (421 aa) | |||
DCAF11 | DDB1- and CUL4-associated factor 11; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors (546 aa) | |||
WDR27 | WD repeat-containing protein 27; WD repeat domain containing (895 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) | |||
NUP37 | Nucleoporin Nup37; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation; Nucleoporins (326 aa) | |||
ENSG00000259371 | annotation not available (283 aa) | |||
SEC11C | Signal peptidase complex catalytic subunit SEC11C; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (192 aa) | |||
WDR38 | WD repeat-containing protein 38; WD repeat domain containing (315 aa) | |||
HMCN2 | Hemicentin-2; Immunoglobulin like domain containing; Fibulins (5059 aa) |