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GABARAPL2 | GABA(A) receptor-associated protein-like 2; Involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Involved in autophagy (By similarity) (117 aa) | |||
ESR1 | estrogen receptor 1; Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA- binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial [...] (595 aa) | |||
DHRS7 | dehydrogenase/reductase (SDR family) member 7 (339 aa) | |||
HSDL1 | hydroxysteroid dehydrogenase like 1 (330 aa) | |||
PRKAB1 | protein kinase, AMP-activated, beta 1 non-catalytic subunit; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also [...] (270 aa) | |||
ACLY | ATP citrate lyase; ATP citrate-lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. Has a central role in de novo lipid synthesis. In nervous tissue it may be involved in the biosynthesis of acetylcholine (1101 aa) | |||
VHL | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase; Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia- inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2 (213 aa) | |||
ERCC8 | excision repair cross-complementing rodent repair deficiency, complementation group 8; Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription- coup [...] (396 aa) | |||
VDAC1 | voltage-dependent anion channel 1; Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective. May participate in the formation of the permeability transition pore complex (PTPC) [...] (283 aa) | |||
UBE2F | ubiquitin-conjugating enzyme E2F (putative); Accepts the ubiquitin-like protein NEDD8 from the UBA3- NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX2, but not RBX1, suggests that the RBX2-UBE2F complex neddylates specific target proteins, such as CUL5 (185 aa) | |||
EGFR | epidermal growth factor receptor (1210 aa) | |||
HSD17B12 | hydroxysteroid (17-beta) dehydrogenase 12; Catalyzes the transformation of estrone (E1) into estradiol (E2), suggesting a central role in estrogen formation. Its strong expression in ovary and mammary gland suggest that it may constitute the major enzyme responsible for the conversion of E1 to E2 in women. Also has 3-ketoacyl-CoA reductase activity, reducing both long chain 3-ketoacyl-CoAs and long chain fatty acyl-CoAs, suggesting a role in long fatty acid elongation (312 aa) | |||
GPD1L | glycerol-3-phosphate dehydrogenase 1-like; Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L (351 aa) | |||
CBR1 | carbonyl reductase 1; NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2-alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione (277 aa) | |||
GPD1 | glycerol-3-phosphate dehydrogenase 1 (soluble) (349 aa) | |||
SDHAF2 | succinate dehydrogenase complex assembly factor 2; Required for insertion of FAD cofactor into SDHA, the catalytic subunit of succinate dehydrogenase (SDH). SDH is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). In is unclear whether it participates in the chemistry of FAD attachment (enzymatic function) or acts as a chaperone that maintains SDHA in a conformation that is susceptible to autocatalytic FAD attachment (166 aa) | |||
C12orf44 | chromosome 12 open reading frame 44; Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation (218 aa) | |||
GRB2 | growth factor receptor-bound protein 2; Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway (217 aa) | |||
ATP9A | ATPase, class II, type 9A (1047 aa) | |||
UBC | ubiquitin C (685 aa) | |||
UBQLN2 | ubiquilin 2; Increases the half-life of proteins destined to be degraded by the proteasome; may modulate proteasome-mediated protein degradation (624 aa) | |||
SEC63 | SEC63 homolog (S. cerevisiae); Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum membrane (760 aa) | |||
HSD17B3 | hydroxysteroid (17-beta) dehydrogenase 3; Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH (310 aa) | |||
ATP9B | ATPase, class II, type 9B (1147 aa) | |||
URM1 | ubiquitin related modifier 1; Acts as a sulfur carrier required for 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Serves as sulfur donor in tRNA 2-thiolation reaction by thiocarboxylated (-COSH) at its C-terminus by MOCS3. The sulfur is then transferred to tRNA to form 2-thiolation of mcm(5)S(2)U. May also act as an ubiquitin-like protein that is covalently conjugated to other proteins; the relevance of such function is however unclear in vivo (146 aa) | |||
ENSG00000256591 | Uncharacterized protein (163 aa) |