Terminology Service for NFDI4Health
All terms in UNIPROT
| Label | Id | Description |
|---|---|---|
| Inactive ubiquitin carboxyl-terminal hydrolase 54 | Q8BL06 | [Function: Has no peptidase activity.] |
| Prolyl 4-hydroxylase subunit alpha-3 | Q6W3F0 | [Function: Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.] |
| Coiled-coil domain-containing protein 71 | Q8VEG0 | |
| Probable G-protein coupled receptor 150 | Q8BL07 | [Function: Orphan receptor.] |
| Mitochondrial basic amino acids transporter | Q8BL03 | [Function: Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine. Does not transport carnitine nor acylcarnitines. Functions by both counter-exchange and uniport mechanisms (By similarity). Can restore ornithine transport in cells lacking the primary mitochondrial ornithine transporter SLC25A15 (PubMed:19287344).] |
| Cadherin-related family member 3 | Q8BL00 | [Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.] |
| CUB domain-containing protein 2 | Q5VXM1 | |
| Androgen receptor | P19091 | [Function: Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation. Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.] |
| Vomeronasal type-1 receptor 95 | Q5J3G9 | [Function: Putative pheromone receptor implicated in the regulation of social as well as reproductive behavior.] |
| Fatty acid synthase | P19096 | [Function: Fatty acid synthetase catalyzes the formation of long-chain fatty acids from acetyl-CoA, malonyl-CoA and NADPH. This multifunctional protein has 7 catalytic activities as an acyl carrier protein.] |
| Oral-facial-digital syndrome 1 protein | O75665 | [Function: Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).] |
| PAXIP1-associated glutamate-rich protein 1A | Q99L02 | [Function: Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex (PubMed:19124460). However, its function in DNA damage has been questioned (PubMed:26744420). During immunoglobulin class switching in activated B-cells is involved in transcription regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus independently of the MLL2/MLL3 complex (PubMed:26744420). Involved in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition (By similarity). Acts as transcriptional cofactor for nuclear hormone receptors. Inhibits the induction properties of several steroid receptors such as NR3C1, AR and PPARG; the mechanism of inhibition appears to be gene-dependent (By similarity). May be involved in the regulation of the BMP pathway in extraembryonic development (PubMed:24633704).] |
| Cytochrome P450 11B2, mitochondrial | P19099 | [Function: A cytochrome P450 monooxygenase that catalyzes the biosynthesis of adrenal mineralocorticoid aldosterone (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone/21-hydroxyprogesterone, namely 11-beta hydroxylation followed with two successive oxidations at C18 to yield 18-hydroxy and then 18-aldehyde derivatives, resulting in the formation of aldosterone (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506).] |
| TIP41-like protein | O75663 | [Function: May be a allosteric regulator of serine/threonine-protein phosphatase 2A (PP2A). Isoform 1 inhibits catalytic activity of the PP2A(D) core complex in vitro. The PP2A(C):TIPRL complex does not show phosphatase activity. Acts as negative regulator of serine/threonine-protein phosphatase 4 probably by inhibiting the formation of the active PPP4C:PPP4R2 complex; the function is proposed to implicate it in DNA damage response by promoting H2AFX phosphorylated on Ser-140 (gamma-H2AFX). May play a role in the regulation of ATM/ATR signaling pathway controlling DNA replication and repair.] |
| HAUS augmin-like complex subunit 8 | Q99L00 | [Function: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex.] |
| Glycerophosphodiester phosphodiesterase domain-containing protein 4 | Q6W3E5 | |
| Prolyl 4-hydroxylase subunit alpha-3 | Q6W3E9 | [Function: Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.] |
| Ankyrin repeat domain-containing protein 37 | Q569N2 | |
| Clathrin interactor 1 | Q99KN9 | [Function: Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly (By similarity).] |
| COBW domain-containing protein 1 | Q8VEH6 |