Terminology Service for NFDI4Health
All terms in UNIPROT
| Label | Id | Description |
|---|---|---|
| WD repeat-containing protein 55 | Q9CX97 | [Function: Nucleolar protein that acts as a modulator of rRNA synthesis. Plays a central role during organogenesis.] |
| Cytochrome P450 2U1 | Q9CX98 | [Function: Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes (By similarity).] |
| Cdc42 effector protein 3 | Q9UKI2 | [Function: Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts.] |
| Serine/threonine-protein kinase ATR | Q9JKK8 | [Function: Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates Ser-139 of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication (By similarity). Essential for preventing the occurrence of DNA damage during early embryogenesis.] |
| Protein phosphatase 1J | Q149T7 | |
| Pre-B lymphocyte protein 3 | Q9UKI3 | [Function: Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells.] |
| Phospholipase A and acyltransferase 2 | Q9NWW9 | [Function: Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19615464, PubMed:22825852, PubMed:22605381, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2) activity, catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19615464, PubMed:22825852, PubMed:22605381). For most substrates, PLA1 activity is much higher than PLA2 activity (PubMed:19615464). Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (PubMed:19615464). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylethanolamines (NAEs) (PubMed:19615464, PubMed:22825852, PubMed:22605381). Catalyzes N-acylation of PE using both sn-1 and sn-2 palmitoyl groups of PC as acyl donor (PubMed:22605381). Exhibits high phospholipase A1/2 activity and low N-acyltransferase activity (PubMed:22825852).] |
| Tropomodulin-2 | Q9JKK7 | [Function: Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity).] |
| Serine/threonine-protein kinase tousled-like 1 | Q9UKI8 | [Function: Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at 'Ser-10'.] |
| Copper homeostasis protein cutC homolog | Q9D8X1 | [Function: May play a role in copper homeostasis. Can bind one Cu(1+) per subunit (By similarity).] |
| POU domain, class 2, transcription factor 3 | Q9UKI9 | [Function: Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Regulated the expression of a number of genes such as SPRR2A or placental lactogen.] |
| Coiled-coil domain-containing protein 124 | Q9D8X2 | [Function: Required for proper progression of late cytokinetic stages.] |
| Gap junction epsilon-1 protein | Q9CX92 | [Function: Mediates calcium-independent ATP release, suggesting activity as a hemichannel (PubMed:18849090). Does not form functional gap junctions (PubMed:18849090). May play a non-essential role in eye lens development (PubMed:18385072, PubMed:27038752).] |
| Membrane-anchored junction protein | Q9D992 | [Function: Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly for the stabilization of telomere attachment on the nucleus inner membrane.] |
| Complex I intermediate-associated protein 30, mitochondrial | Q9CWX2 | [Function: Chaperone protein involved in early stages of the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).] |
| Uncharacterized protein C2orf42 | Q9NWW7 | |
| Syntaxin-6 | Q9JKK1 | [Function: Involved in intracellular vesicle trafficking.] |
| Nicotinamide riboside kinase 1 | Q9NWW6 | [Function: Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). The enzyme also phosphorylates the antitumor drugs tiazofurin and 3-deazaguanosine.] |
| Protein MANBAL | Q9D8X0 | |
| Ceroid-lipofuscinosis neuronal protein 6 | Q9NWW5 |