Terminology Service for NFDI4Health
All terms in UNIPROT
| Label | Id | Description |
|---|---|---|
| TBC1 domain family member 12 | M0R7T9 | [Function: RAB11A-binding protein that plays a role in neurite outgrowth.] |
| Inner nuclear membrane protein Man1 | Q9WU40 | [Function: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest (By similarity).] |
| E3 ubiquitin-protein ligase BRE1A | Q5DTM8 | [Function: Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role in histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradictory. Required for transcriptional activation of Hox genes. Recruited to the MDM2 promoter, probably by being recruited by p53/TP53, and thereby acts as a transcriptional coactivator. Mediates the polyubiquitination of PA2G4 leading to its proteasome-mediated degradation.] |
| DNA repair protein XRCC3 | O43542 | [Function: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C.] |
| Teneurin-1 | Q9WTS4 | [Function: Induces gene transcription activation.] |
| DNA repair protein XRCC2 | O43543 | [Function: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA.] |
| Alpha-(1,6)-fucosyltransferase | Q9WTS2 | [Function: Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.] |
| Nuclear receptor corepressor 2 | Q9WU42 | [Function: Transcriptional corepressor. Mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Isoform 1 and isoform 5 have different affinities for different nuclear receptors. Involved in the regulation BCL6-dependent of the germinal center (GC) reactions, mainly through the control of the GC B-cells proliferation and survival. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation.] |
| Mothers against decapentaplegic homolog 6 | O43541 | [Function: Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions.] |
| Ficolin-1 | Q9WTS8 | [Function: Extracellular lectin functioning as a pattern-recognition receptor in innate immunity. Binds the sugar moieties of pathogen-associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8. Binds preferentially to 9-O-acetylated 2-6-linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage (By similarity).] |
| 26S proteasome non-ATPase regulatory subunit 13 | Q9UNM6 | [Function: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.] |
| Teneurin-3 | Q9WTS6 | [Function: Involved in neural development by regulating the establishment of proper connectivity within the nervous system (PubMed:17478416, PubMed:17803360, PubMed:23028443, PubMed:25406022, PubMed:22499796, PubMed:29414938). Acts in both pre- and postsynaptic neurons in the hippocampus to control the assembly of a precise topographic projection: required in both CA1 and subicular neurons for the precise targeting of proximal CA1 axons to distal subiculum, probably by promoting homophilic cell adhesion (PubMed:29414938). Promotes homophilic adhesion in a splicing isoform-dependent manner: most isoforms (isoform-type A and type-B) can mediate homophilic interaction (PubMed:29414938). Promotes axon guidance (PubMed:23028443). Required for proper dendrite morphogenesis and axon targeting in the vertebrate visual system, thereby playing a key role in the development of the visual pathway (PubMed:17803360, PubMed:23028443, PubMed:25406022, PubMed:22499796). Regulates the formation in ipsilateral retinal mapping to both the dorsal lateral geniculate nucleus (dLGN) and the superior colliculus (SC) (PubMed:17803360, PubMed:23028443). May also be involved in the differentiation of the fibroblast-like cells in the superficial layer of mandibular condylar cartilage into chondrocytes (PubMed:20636325).] |
| Leukocyte immunoglobulin-like receptor subfamily A member 5 | A6NI73 | [Function: May play a role in triggering innate immune responses. Does not seem to play a role for any class I MHC antigen recognition.] |
| Teneurin-2 | Q9WTS5 | [Function: Induces gene transcription inhibition.] |
| Putative neutrophil cytosol factor 1B | A6NI72 | [Function: May be required for activation of the latent NADPH oxidase (necessary for superoxide production).] |
| Protein-glutamine gamma-glutamyltransferase 5 | O43548 | [Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes.] |
| Calcium-regulated heat stable protein 1 | Q9WU49 | [Function: Binds mRNA and regulates the stability of target mRNA.] |
| Coiled-coil domain-containing protein 69 | A6NI79 | [Function: May act as a scaffold to regulate the recruitment and assembly of spindle midzone components. Required for the localization of AURKB and PLK1 to the spindle midzone.] |
| Forkhead box protein D4-like 3 | Q6VB84 | |
| Janus kinase and microtubule-interacting protein 3 | Q5DTN8 |