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| FA2H | Fatty acid 2-hydroxylase; Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids; Belongs to the sterol desaturase family. SCS7 subfamily (372 aa) | |||
| PAPOLG | Poly(A) polymerase gamma; Responsible for the post-transcriptional adenylation of the 3’-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA (736 aa) | |||
| LPCAT3 | Lysophospholipid acyltransferase 5; Acyltransferase which mediates the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3- phosphocholine or PC) (LPCAT activity). Catalyzes also the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero- 3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn- glycero-3-phospho-L-serine or PS) (LPSAT activity). Has also weak lysophosphatidylethanolamine acyltransferase activity (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors com [...] (487 aa) | |||
| PPAP2A | Phospholipid phosphatase 1; Phosphatidic acid phosphatase type 2A (285 aa) | |||
| GGPS1 | Geranylgeranyl pyrophosphate synthase; Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins (300 aa) | |||
| SMARCA5 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5; Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. [...] (1052 aa) | |||
| HMGCR | 3-hydroxy-3-methylglutaryl-coenzyme A reductase; Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins; Belongs to the HMG-CoA reductase family (888 aa) | |||
| DGKI | Diacylglycerol kinase iota; Ankyrin repeat domain containing (1065 aa) | |||
| TRIM68 | E3 ubiquitin-protein ligase TRIM68; Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity; Ring finger proteins (485 aa) | |||
| CC2D1A | Coiled-coil and C2 domain-containing protein 1A; Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When c [...] (951 aa) | |||
| MOB4 | MOB-like protein phocein; May play a role in membrane trafficking, specifically in membrane budding reactions; Belongs to the MOB1/phocein family (225 aa) | |||
| PPAP2C | Phospholipid phosphatase 2; Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1- phosphate (S-1-P). The relative catalytic efficiency is PA > C-1-P > LPA > S-1-P; Belongs to the PA-phosphatase related phosphoesterase family (309 aa) | |||
| GATA4 | Transcription factor GATA-4; Transcriptional activator that binds to the consensus sequence 5’-AGATAG-3’ and plays a key role in cardiac development and function. In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression. Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac- specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in coop [...] (442 aa) | |||
| DMD | Dystrophin; Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission; X-linked mental retardation (3685 aa) | |||
| UTRN | Utrophin; May play a role in anchoring the cytoskeleton to the plasma membrane; Zinc fingers ZZ-type (3433 aa) | |||
| VTA1 | Vacuolar protein sorting-associated protein VTA1 homolog; Involved in the endosomal multivesicular bodies (MVB) pathway. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. Thought to be a cofactor of VPS4A/B, which catalyzes disassembles membrane-associated ESCRT-III assemblies. Involved in the sorting and down-regulation of EGFR (By similarity). Involv [...] (307 aa) | |||
| SMARCA1 | Probable global transcription activator SNF2L1; Energy-transducing component of NURF (nucleosome- remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells; Myb/SANT domain containing (1070 aa) | |||
| PPAP2B | Phospholipid phosphatase 3; Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1- phosphate (S-1-P). The relative catalytic efficiency is LPA = PA > C-1-P > S-1-P. May be involved in cell adhesion and in cell-cell interactions (311 aa) | |||
| CC2D1B | Coiled-coil and C2 domain-containing protein 1B; Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells; C2 domain containing (858 aa) | |||
| TM9SF2 | Transmembrane 9 superfamily member 2; In the intracellular compartments, may function as a channel or small molecule transporter; Transmembrane 9 superfamily members (663 aa) | |||
| IGF2BP2 | Insulin-like growth factor 2 mRNA-binding protein 2; RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript ’caging’ into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation (By similarity). Binds to the 5’-UTR of the insulin-like growth factor 2 (IGF2) mRNAs. Binding is isoform-specific. Binds to beta- actin/ACTB and MYC transcripts; Belongs to the [...] (599 aa) | |||
| TM9SF4 | Transmembrane 9 superfamily member 4; Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface. Regulates the assembly and activity of V-ATPase in colon cancer cells via its interaction with V-type proton ATPase subunit H (ATP6V1H) and contributes to V-ATPase-mediated pH alterations in cancer cells which play an important role in drug resistance and invasiveness of colon cancer cells. Plays an important role in an atypical phagocytic activity of metastatic melanoma cells called cannibalism and is involved in the [...] (642 aa) | |||
| ILF3 | Interleukin enhancer-binding factor 3; RNA-binding protein that plays an essential role in the biogenesis of circular RNAs (circRNAs) which are produced by back- splicing circularization of pre-mRNAs. Within the nucleus, promotes circRNAs processing by stabilizing the regulatory elements residing in the flanking introns of the circularized exons. Plays thereby a role in the back-splicing of a subset of circRNAs. As a consequence, participates in a wide range of transcriptional and post-transcriptional processes. Upon viral infection, ILF3 accumulates in the cytoplasm and participates i [...] (898 aa) | |||
| DGKZ | Diacylglycerol kinase zeta; Displays a strong preference for 1,2-diacylglycerols over 1,3-diacylglycerols, but lacks substrate specificity among molecular species of long chain diacylglycerols. Isoform 2 but not isoform 1 regulates RASGRP1 activity; Belongs to the eukaryotic diacylglycerol kinase family (1117 aa) | |||
| HSPE1-MOB4 | HSPE1-MOB4 readthrough; Belongs to the GroES chaperonin family (261 aa) | |||
| FXYD1 | Phospholemman; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone (92 aa) | |||
