Terminology Service for NFDI4Health
All terms in UNIPROT
| Label | Id | Description |
|---|---|---|
| ATP-binding cassette sub-family D member 4 | O14678 | [Function: May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm.] |
| Developmental pluripotency-associated protein 3 | Q6W0C5 | [Function: Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) on maternal genome, and protects maternal genome from TET3-mediated conversion to 5hmC and subsequent DNA demethylation. Does not bind paternal chromatin, which is mainly packed into protamine and does not contain much H3K9me2 mark. Also protects imprinted loci that are marked with H3K9me2 in mature sperm from DNA demethylation in early embryogenesis. May be important for the totipotent/pluripotent states continuing through preimplantation development. Also involved in chromatin condensation in oocytogenesis (By similarity).] |
| Galectin-3-binding protein | Q07797 | [Function: Promotes integrin-mediated cell adhesion. May stimulate host defense against viruses and tumor cells (By similarity).] |
| Raftlin | Q6A0D4 | [Function: Involved in protein trafficking via association with clathrin and AP2 complex (By similarity). Upon bacterial lipopolysaccharide stimulation, mediates internalization of TLR4 to endosomes in dendritic cells and macrophages, and internalization of poly(I:C) to TLR3-positive endosomes in myeloid dendritic cells and epithelial cells; resulting in activation of TICAM1-mediated signaling and subsequent IFNB1 production (PubMed:27022195). Involved in T-cell antigen receptor-mediated signaling by regulating tyrosine kinase LCK localization, T-cell dependent antibody production and cytokine secretion (PubMed:19414744). May regulate B-cell antigen receptor-mediated signaling (By similarity). May play a pivotal role in the formation and/or maintenance of lipid rafts (By similarity).] |
| E3 ubiquitin-protein ligase SMURF2 | A2A5Z6 | [Function: 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. Interacts with SMAD1 and SMAD7 in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates, such as SNON, for ubiquitin-mediated degradation. Enhances the inhibitory activity of SMAD7 and reduces the transcriptional activity of SMAD2. Coexpression of SMURF2 with SMAD1 results in considerable decrease in steady-state level of SMAD1 protein and a smaller decrease of SMAD2 level. Negatively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation (By similarity).] |
| Ankyrin repeat and zinc finger domain-containing protein 1 | Q80UU1 | [Function: Plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (By similarity). Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway (By similarity).] |
| Heat shock factor protein 4 | Q9R0L1 | [Function: DNA-binding protein that specifically binds heat shock promoter elements (HSE). The HSF4A isoform represses transcription while the HSF4B isoform activates transcription.] |
| Ribonuclease P protein subunit p38 | Q80UU2 | [Function: Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences.] |
| Fanconi anemia group D2 protein homolog | Q80V62 | [Function: Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress (By similarity). Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.] |
| Cullin-associated NEDD8-dissociated protein 2 | Q9R0L4 | [Function: Probable assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes.] |
| PR domain zinc finger protein 4 | Q80V63 | [Function: May function as a transcription factor involved in cell differentiation.] |
| Storkhead-box protein 1 | B2RQL2 | [Function: Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (By similarity). Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (PubMed:25677106). Involved in cell cycle regulation by binding to the CCNB1 promoter, up-regulating its expression and promoting mitotic entry (By similarity). Induces phosphorylation of MAPT/tau (By similarity).] |
| Pericentriolar material 1 protein | Q9R0L6 | [Function: Required for centrosome assembly and function (PubMed:12112146). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (By similarity). Required to anchor microtubules to the centrosome (By similarity). Involved in the biogenesis of cilia (By similarity).] |
| Potassium channel subfamily K member 4 | G3V8V5 | [Function: Voltage-insensitive potassium channel (PubMed:11374070, PubMed:15677687). Channel opening is triggered by mechanical forces that deform the membrane, and by raising the intracellular pH to basic levels (PubMed:11374070, PubMed:15677687). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (PubMed:15677687). Plays a role in the perception of pain caused by heat (By similarity). Plays a role in the sensory perception of pain caused by pressure (By similarity).] |
| A-kinase anchor protein 8-like | Q9R0L7 | [Function: Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export. Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis. May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta. Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function seems to act redundantly with AKAP8. May be involved in regulation of pre-mRNA splicing (By similarity).] |
| Sialomucin core protein 24 | Q9R0L9 | [Function: Sialomucin that may play a key role in hematopoiesis. May be involved in cell adhesion (By similarity). Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes.] |
| Membrane-associated progesterone receptor component 2 | Q80UU9 | [Function: Receptor for steroids.] |
| Histone deacetylase complex subunit SAP130 | Q8BIH0 | [Function: Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (By similarity).] |
| Multiple epidermal growth factor-like domains protein 6 | Q80V70 | |
| Putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 | Q5VUJ5 | [Function: Putative GTPase-activating protein.] |