Terminology Service for NFDI4Health
All terms in UNIPROT
| Label | Id | Description |
|---|---|---|
| Cytochrome P450 2A12 | P56593 | [Function: Highly active in the 7-alpha-hydroxylation of testosterone.] |
| Rhomboid domain-containing protein 3 | Q642B3 | |
| Type II inositol 3,4-bisphosphate 4-phosphatase | Q9QWG5 | [Function: Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate and inositol 3,4-bisphosphate (PubMed:9295334). Plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3,4-bisphosphate in membrane ruffles (By similarity). The lipid phosphatase activity is critical for tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (By similarity).] |
| Zinc finger protein 672 | Q642B2 | [Function: May be involved in transcriptional regulation.] |
| ABI gene family member 3 | Q9P2A4 | [Function: May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility.] |
| Sulfotransferase family cytosolic 1B member 1 | Q9QWG7 | [Function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates L-DOPA and D-DOPA, tyrosine isomers such as DL-m-tyrosine, dopamine and thyroid hormones.] |
| DNA mismatch repair protein Msh3 | P20585 | [Function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis.] |
| Suppressor of tumorigenicity 7 protein-like | Q8TDW4 | |
| NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial | O95178 | [Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.] |
| Synaptotagmin-like protein 5 | Q8TDW5 | [Function: May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids.] |
| Grainyhead-like protein 3 homolog | Q8TE85 | [Function: Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122).] |
| WASH complex subunit 5 | Q8C2E7 | [Function: Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting. May be involved in axonal outgrowth. Involved in cellular localization of ADRB2. Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (By similarity). Involved in cytokinesis and following polar body extrusion during oocyte meiotic maturation (PubMed:24998208).] |
| Volume-regulated anion channel subunit LRRC8C | Q8TDW0 | [Function: Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Plays a redundant role in the efflux of amino acids, such as aspartate and glutamate, in response to osmotic stress. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.] |
| Protein FAM71E1 | A1L3C1 | |
| SH3 domain and tetratricopeptide repeat-containing protein 1 | Q8TE82 | |
| von Willebrand factor D and EGF domain-containing protein | Q8N2E2 | |
| Outer dense fiber protein 4 | Q2M2E3 | [Function: Component of the outer dense fibers (ODF) of spermatozoa which could be involved in sperm tail structure, sperm movement and general organization of cellular cytoskeleton.] |
| CMT1A duplicated region transcript 1 protein | O95170 | |
| Pentatricopeptide repeat-containing protein 1, mitochondrial | Q8C2E4 | [Function: Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs.] |
| Uncharacterized protein C5orf64 | Q2M2E5 |