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| RALA | Ras-related protein Ral-A; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA-exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling. Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of th [...] (206 aa) | |||
| CA11 | Carbonic anhydrase-related protein 11; Does not have a catalytic activity; Carbonic anhydrases (328 aa) | |||
| ERF | ETS domain-containing transcription factor ERF; Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity) (548 aa) | |||
| PCOLCE | Procollagen C-endopeptidase enhancer 1; Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity (449 aa) | |||
| WFS1 | Wolframin; Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store; Deafness associated genes (890 aa) | |||
| FOXF2 | Forkhead box protein F2; Probable transcription activator for a number of lung- specific genes; Forkhead boxes (444 aa) | |||
| LRP6 | Low-density lipoprotein receptor-related protein 6; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor- ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3- mediated phosphorylation and destruction o [...] (1613 aa) | |||
| WNT5A | Protein Wnt-5a; Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression. Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferatio [...] (380 aa) | |||
| ANTXR1 | Anthrax toxin receptor 1; Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells (564 aa) | |||
| BCL2L1 | Bcl-2-like protein 1; Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage- dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis; Belongs to the Bcl-2 family (233 aa) | |||
| ANTXR2 | Anthrax toxin receptor 2; Necessary for cellular interactions with laminin and the extracellular matrix (489 aa) | |||
| PAM16 | Mitochondrial import inner membrane translocase subunit TIM16; Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity; Belongs to the TIM16/PAM16 family (125 aa) | |||
| SUPT6H | Transcription elongation factor SPT6; Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H-IWS1-CTD complex r [...] (1726 aa) | |||
| B4GALNT4 | N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1; Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N’-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans; Belongs to the chondroitin N- acetylgalactosaminyltransferase family (1039 aa) | |||
| KIRREL | Kin of IRRE-like protein 1; Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity); Belongs to the immunoglobulin superfamily (757 aa) | |||
| TRIP12 | E3 ubiquitin-protein ligase TRIP12; E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair. Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of protein at their N-terminus, regardeless of the presence of lysine residues in target proteins. In normal cells, mediates ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A, a lysine-less tumor suppressor required for p53/TP53 activation under oncogenic stress. In cancer cells, however, isoform p19ARF/ARF and TRIP12 are located in [...] (2040 aa) | |||
| MAP2K7 | Dual specificity mitogen-activated protein kinase kinase 7; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylati [...] (435 aa) | |||
| HECTD1 | E3 ubiquitin-protein ligase HECTD1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ’Lys-63’-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure; Belongs to the UPL family. K-HECT subfamily (2610 aa) | |||
| PCYOX1 | Prenylcysteine oxidase 1; Involved in the degradation of prenylated proteins. Cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine (505 aa) | |||
| BRCA1 | Breast cancer type 1 susceptibility protein; E3 ubiquitin-protein ligase that specifically mediates the formation of ’Lys-6’-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic [...] (1884 aa) | |||
| HDAC2 | Histone deacetylase 2; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed o [...] (488 aa) | |||
| SAMD1 | Atherin; May play a role in atherogenesis by immobilizing LDL in the atherial wall; Sterile alpha motif domain containing (432 aa) | |||
| DMXL2 | DmX-like protein 2; May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles. Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity); Deafness associated genes (3037 aa) | |||
| KANK2 | KN motif and ankyrin repeat domain-containing protein 2; Involved in transcription regulation by sequestering nuclear receptor coactivators, such as NCOA1, NCOA2 and NCOA3, in the cytoplasm; the function is deregulated by phosphorylation. Involved in the negative control of vitamin D receptor signaling pathway. May be involved in the control of cytoskeleton formation by regulating actin polymerization. Involved in regulation of caspase-independent apoptosis; proposed to sequester AIFM1 in mitochondria and apoptotic stimuli lead to its proteasomal degradation allowing the release of AIF [...] (859 aa) | |||
| H6PD | GDH/6PGL endoplasmic bifunctional protein; Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates; In the C-terminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6- phosphogluconolactonase subfamily (802 aa) | |||
| FURIN | Furin; Furin is likely to represent the ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RX(K/R)R consensus motif; Proprotein convertase subtilisin/kexin family (794 aa) | |||
