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PMM1 | Phosphomannomutase 1; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain; Belongs to the eukaryotic PMM family (262 aa) | |||
PRPF19 | Pre-mRNA-processing factor 19; Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates ’Lys-63’-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex. Recruite [...] (504 aa) | |||
PRKAB1 | 5’-AMP-activated protein kinase subunit beta-1; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a reg [...] (270 aa) | |||
TTC21B | Tetratricopeptide repeat protein 21B; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Negatively modulates the SHH signal transduction (By similarity); Intraflagellar transport proteins (1316 aa) | |||
NSRP1 | Nuclear speckle splicing regulatory protein 1; RNA-binding protein that mediates pre-mRNA alternative splicing regulation (558 aa) | |||
PRKAB2 | 5’-AMP-activated protein kinase subunit beta-2; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a reg [...] (272 aa) | |||
MLYCD | Malonyl-CoA decarboxylase, mitochondrial; Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in mus [...] (493 aa) | |||
PMM2 | Phosphomannomutase 2; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions; HAD Asp-based non-protein phosphatases (246 aa) | |||
KAT6B | Histone acetyltransferase KAT6B; Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity; Belongs to the MYST (SAS/MOZ) family (2073 aa) | |||
NKX6-1 | Homeobox protein Nkx-6.1; Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in transcriptional regulation in islet beta cells. Binds to the insulin promoter and is involved in regulation of the insulin gene. Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals (By similarity); NKL subclass homeoboxes and pseudogenes (367 aa) | |||
LRTOMT | Transmembrane O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function. Component of the cochlear hair cell’s mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity); Belongs to the class I-like SAM-binding methyltransferase [...] (291 aa) | |||
RPL4 | L ribosomal proteins (427 aa) | |||
MINOS1 | MICOS complex subunit MIC10; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane (78 aa) | |||
NKX6-2 | Homeobox protein Nkx-6.2; Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5’- (A/T)TTAATGA-3’. In oligodendrocytes, binds to MBP and PLP1 promoter regions; NKL subclass homeoboxes and pseudogenes (277 aa) | |||
CSNK2B | Casein kinase II subunit beta; Participates in Wnt signaling (By similarity). Plays a complex role in regulating the basal catalytic activity of the alpha subunit; Belongs to the casein kinase 2 subunit beta family (215 aa) | |||
TAF2 | Transcription initiation factor TFIID subunit 2; Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. It requires core promoter-specific cofactors for productive transcription stimulation. TAF2 stabilizes TFIID binding to core promoter (1199 aa) | |||
CIAPIN1 | Anamorsin; Has anti-apoptotic effects in the cell. Involved in negative control of cell death upon cytokine withdrawal. Promotes development of hematopoietic cells (By similarity). Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Electrons are transferred to the Fe-S cluster from NADPH via the FAD- and FMN-containing protein NDOR1 (312 aa) | |||
TTC21A | Tetratricopeptide repeat domain containing; Belongs to the TTC21 family (1320 aa) | |||
SPCS3 | Signal peptidase complex subunit 3; Component of the microsomal signal peptidase complex which removes signal peptides and other N-terminal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (180 aa) | |||
NKX6-3 | Homeobox protein Nkx-6.3; Putative transcription factor, which may be involved in patterning of central nervous system and pancreas; NKL subclass homeoboxes and pseudogenes (135 aa) | |||
ZNF706 | Zinc finger protein 706; Transcription repressor involved in the exit of embryonic stem cells (ESCs) from self-renewal. Acts by repressing expression of KLF4 (76 aa) | |||
EIF3M | Eukaryotic translation initiation factor 3 subunit M; 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 pre- initiation 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 ribos [...] (374 aa) | |||
JOSD2 | Josephin-2; Cleaves ’Lys-63’-linked poly-ubiquitin chains, and with lesser efficiency ’Lys-48’-linked poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme; MJD deubiquinating enzymes (188 aa) | |||
ENSG00000263020 | Chimera CSNK2B-LY6G5B splicing isoform 991 (304 aa) | |||
ENSG00000260300 | Uncharacterized protein (175 aa) | |||
MUC1 | Mucin-1; The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack; CD molecules (484 aa) |