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PLOD1 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (727 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) | |||
BRD1 | bromodomain containing 1; Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (1058 aa) | |||
PLOD3 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (738 aa) | |||
RARA | retinoic acid receptor, alpha; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5’-AGGTCA-3’ sites known as DR1-DR5. In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone acetylation, chromatin condensation and transcrip [...] (462 aa) | |||
EED | embryonic ectoderm development; Polycomb group (PcG) protein. Component of the PRC2/EED- EZH2 complex, which methylates ’Lys-9’ and ’Lys-27’ of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes ’Lys-26’ trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 ’Lys-27’, whereas H3 ’Lys-27’ recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby link [...] (441 aa) | |||
RBBP5 | retinoblastoma binding protein 5; In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 ’Lys-4’ methylation at key developmental loci, including that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at ’Lys-4’ of histone H3. Histone H3 ’Lys-4’ methylation represents a specific tag for epigenetic transcriptional activation (538 aa) | |||
THRA | thyroid hormone receptor, alpha; Nuclear hormone receptor. High affinity receptor for triiodothyronine (490 aa) | |||
SMARCA2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2; Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chrom [...] (1590 aa) | |||
PLOD2 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (758 aa) | |||
ZNF496 | zinc finger protein 496; DNA-binding transcription factor that can both act as an activator and a repressor (By similarity) (587 aa) | |||
TNFRSF21 | tumor necrosis factor receptor superfamily, member 21; May activate NF-kappa-B and promote apoptosis. May activate JNK and be involved in T-cell differentiation. Required for both normal cell body death and axonal pruning. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is further cleaved to release an N- terminal fragment of APP (N-APP). N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6) (655 aa) | |||
SIRT7 | sirtuin 7; NAD-dependent protein deacetylase that specifically mediates deacetylation of histone H3 at ’Lys-18’ (H3K18Ac). In contrast to other histone deacetylases, displays selectivity for a single histone mark, H3K18Ac, directly linked to control of gene expression. H3K18Ac is mainly present around the transcription start site of genes and has been linked to activation of nuclear hormone receptors. SIRT7 thereby acts as a transcription repressor. Moreover, H3K18 hypoacetylation has been reported as a marker of malignancy in various cancers and seems to maintain the transformed pheno [...] (400 aa) | |||
ASH2L | ash2 (absent, small, or homeotic)-like (Drosophila); Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates ’Lys-4’ of histone H3, but not if the neighboring ’Lys-9’ residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at ’Lys-4’ of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis (628 aa) | |||
UBC | ubiquitin C (685 aa) | |||
BRPF3 | bromodomain and PHD finger containing, 3; Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (1205 aa) | |||
SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephos [...] (1679 aa) | |||
HIST4H4 | histone cluster 4, H4; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (103 aa) | |||
PPIE | peptidylprolyl isomerase E (cyclophilin E); PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity) (314 aa) | |||
AR | androgen receptor; 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. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3 (920 aa) | |||
AFF1 | AF4/FMR2 family, member 1 (1218 aa) | |||
RELA | v-rel reticuloendotheliosis viral oncogene homolog A (avian); NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most a [...] (551 aa) | |||
ENSG00000249884 | RNF103-CHMP3 readthrough (221 aa) | |||
NSD1 | nuclear receptor binding SET domain protein 1; Histone methyltransferase. Preferentially methylates ’Lys-36’ of histone H3 and ’Lys-20’ of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context (2696 aa) | |||
SUPT5H | suppressor of Ty 5 homolog (S. cerevisiae); Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promot [...] (1087 aa) | |||
RXRA | retinoid X receptor, alpha; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5’-AGGTCA-3’ sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid. RXRA serves as a common heterodimeric partner for a number of nuclear receptors. The RXR/RAR heterodimers bind to the retinoic acid response [...] (462 aa) |