DPH - diphthamide biosynthesis
Background Diphthamide biosynthesis refers to the highly conserved post-translational modification of a specific histidine residue in eukaryotic elongation factor 2 (eEF2). This unique modification involves a multistep enzymatic process that converts histidine to diphthamide, a critical determinant ...
DNAI - dynein axonemal intermediate chain
Background Dynein axonemal intermediate chain (DNAI) proteins are critical components of the dynein complex, which is essential for the movement of cilia and flagella. The dynein complex is a large multi-subunit motor protein that converts chemical energy from ATP hydrolysis into mechanical work, en...
DMXL - Dmx like
Background DMXL (Dmx-like) proteins are members of the WD repeat-containing family of proteins, which are characterized by the presence of WD40 repeats. These repeats are typically involved in protein-protein interactions and play crucial roles in a wide range of cellular processes, including signal...
DENND - DENN domain containing
Background DENND (DENN domain-containing) proteins are a family of proteins characterized by the presence of a DENN domain, a conserved protein domain involved in guanine nucleotide exchange factor (GEF) activity for Rab GTPases. Rab GTPases are key regulators of intracellular vesicle trafficking, a...
DDB - damage specific DNA binding protein
Background Damage specific DNA binding protein (DDB) is a crucial component of the nucleotide excision repair (NER) pathway, responsible for recognizing and initiating the repair of DNA lesions caused by UV radiation and other genotoxic agents. The DDB complex, primarily composed of DDB1 and DDB2 (a...
DCAF - DDB1 and CUL4 associated factor
Background DDB1 and CUL4 associated factors (DCAFs) are a family of proteins that serve as substrate receptors for the DDB1-CUL4 E3 ubiquitin ligase complex. This complex plays a crucial role in targeting specific proteins for ubiquitination and subsequent proteasomal degradation, which is vital for...
CSTF - cleavage stimulation factor subunit
Background Cleavage stimulation factor (CSTF) is a multi-protein complex essential for the 3'-end processing of pre-mRNA, a critical step in gene expression. CSTF is involved in the cleavage and polyadenylation of pre-mRNA, processes necessary for mRNA maturation and stability. This complex function...
CORO - Coronin
Background Coronins are a family of proteins that play crucial roles in actin cytoskeleton dynamics, which are essential for various cellular processes including cell motility, cytokinesis, and intracellular trafficking. Coronins were first identified in Dictyostelium discoideum, a model organism fo...
WDFY - WD repeat and FYVE domain containing
Background WDFY proteins are characterized by the presence of WD repeat and FYVE domains, playing significant roles in various cellular processes. WD repeats are short, typically 40-amino acid motifs that form a beta-propeller structure, facilitating protein-protein interactions. FYVE domains are zi...
NSMAF - neutral sphingomyelinase activation associated factor
Background NSMAF (Neutral Sphingomyelinase Activation Associated Factor) is a gene encoding a protein that plays a critical role in the regulation of sphingolipid metabolism. This protein is involved in the activation of neutral sphingomyelinase (nSMase), an enzyme crucial for the hydrolysis of sphi...
LRBA - LPS responsive beige-like anchor protein
Background LRBA (LPS-responsive beige-like anchor protein) is a gene encoding a protein that plays a crucial role in the immune system. This protein is primarily involved in the regulation of vesicular trafficking, autophagy, and immune responses. The LRBA gene is located on chromosome 4q31.3 and ha...
RAB - member RAS oncogene family
Background RAB proteins are a large family of small GTPases within the RAS superfamily, involved in regulating intracellular vesicle trafficking. These proteins are pivotal for the proper transport and localization of various cellular components, influencing processes such as endocytosis, exocytosis...
SYNM - synemin
Background Synemin is an intermediate filament (IF) protein that plays a crucial role in maintaining the structural integrity and function of various cell types, particularly in muscle and neuronal cells. It is encoded by the SYNM gene and is highly conserved across species, reflecting its fundament...
NF - neurofibromin/merlin
Background Neurofibromin (NF1) and Merlin (NF2) are two distinct proteins encoded by the NF1 and NF2 genes, respectively. Both proteins are critically involved in tumor suppression, particularly in the context of neurofibromatosis types 1 and 2, two genetic disorders characterized by the development...
NBEA - neurobeachin
Background Neurobeachin (NBEA) is a large, multidomain protein encoded by the NBEA gene located on chromosome 13q13.3. It is highly expressed in the brain and plays a significant role in neuronal development and synaptic function. NBEA is a member of the BEACH (Beige and Chediak-Higashi) domain-cont...
MYO7 - myosin VII
Background Myosin VII (MYO7) is a member of the myosin superfamily, which includes motor proteins that interact with actin filaments to generate cellular movement and transport. MYO7 is specifically known for its roles in sensory functions, particularly in the inner ear and retina. It is crucial for...
MAP2 - microtubule associated protein 2
Background Microtubule-associated protein 2 (MAP2) is a neuron-specific cytoskeletal protein that plays a crucial role in the stabilization and organization of microtubules, essential for maintaining neuronal structure and function. MAP2 is predominantly expressed in the dendrites of neurons, where ...
EZR - ezrin
Background Ezrin is a key protein in the regulation of cell surface structures and functions, playing a critical role in linking the plasma membrane to the actin cytoskeleton. It is a member of the ERM (ezrin, radixin, moesin) protein family, which are involved in cellular processes such as adhesion...
CBFA2T - CBFA2/RUNX1 partner transcriptional co-repressor
Background CBFA2T, also known as CBFA2/RUNX1 Partner Transcriptional Co-Repressor, is a crucial protein involved in the regulation of gene expression. It was originally identified as a fusion partner in the t(8;21) chromosomal translocation commonly found in acute myeloid leukemia (AML). This transl...
ARFGEF - ADP ribosylation factor guanine nucleotide exchange factor
Background ADP ribosylation factor guanine nucleotide exchange factors (ARFGEFs) are a family of proteins that play crucial roles in intracellular trafficking and cytoskeletal dynamics. ARFGEFs are responsible for activating ADP ribosylation factors (ARFs) by facilitating the exchange of GDP for GTP...
BRK1 - BRICK1 subunit of SCAR/WAVE actin nucleating complex
Background BRK1 (BRICK1) is a component of the SCAR/WAVE complex, which is crucial for actin nucleation and cytoskeletal remodeling. This complex is involved in various cellular processes, including cell motility, shape, and division. The SCAR/WAVE complex activates the Arp2/3 complex, which initiat...
CYFIP - cytoplasmic FMR1 interacting protein
Background CYFIP (cytoplasmic FMR1-interacting protein) is a multifunctional protein that plays a crucial role in synaptic function, cytoskeleton organization, and mRNA translation regulation. It was first identified through its interaction with the Fragile X Mental Retardation Protein (FMRP), which...
NCKAP - NCK associated protein
Background NCKAP (NCK-associated protein) is a critical component of the WAVE (WASP family Verprolin-homologous protein) complex involved in the regulation of the actin cytoskeleton. This protein is vital for various cellular processes, including cell motility, adhesion, and signaling. NCKAP, throug...
WASF - WASP family member
Background The WASP family of proteins, including WASF (Wiskott-Aldrich Syndrome protein Family), plays a crucial role in actin cytoskeleton remodeling. These proteins are involved in various cellular processes such as cell motility, adhesion, and signaling. WASF proteins are implicated in the regul...
RXR - retinoid X receptor
Background The Retinoid X Receptor (RXR) is a type of nuclear receptor that plays a central role in the regulation of gene expression involved in various physiological processes. RXRs are part of the nuclear receptor superfamily, which includes receptors for steroid hormones, thyroid hormone, retino...
HNF4 - hepatocyte nuclear factor 4
Background Hepatocyte nuclear factor 4 (HNF4) is a crucial transcription factor belonging to the nuclear receptor superfamily. It plays a significant role in the regulation of gene expression in the liver, kidney, intestines, and pancreas. HNF4 is essential for liver development, glucose metabolism,...
NR1I2-NR1I3 - -nuclear receptor subfamily 1 group I member
Background NR1I2 and NR1I3 are part of the nuclear receptor subfamily 1 group I, encompassing key regulators in the metabolism and detoxification of endogenous and exogenous substances. The nuclear receptor family includes ligand-activated transcription factors essential for gene expression regulati...
VDR - vitamin D receptor
Background The Vitamin D receptor (VDR) is a member of the nuclear receptor family of transcription factors. It mediates the effects of vitamin D, a critical hormone for calcium homeostasis and bone metabolism. The VDR gene is located on chromosome 12q13.11. Vitamin D, upon being converted to its ac...
NR1H - nuclear receptor subfamily 1 group H member
Background Nuclear receptor subfamily 1 group H members, commonly known as Liver X Receptors (LXRs), are pivotal regulators of lipid and cholesterol metabolism. LXRs include two isoforms, LXRα (NR1H3) and LXRβ (NR1H2). They function as ligand-activated transcription factors that modulate the express...
RAR related orphan receptor
Background RAR-related orphan receptors (RORs) are part of the nuclear receptor superfamily of transcription factors, which are key regulators of gene expression. These receptors are termed "orphan" because they were initially discovered without known endogenous ligands. The ROR family includes thre...
NR6A1 - nuclear receptor subfamily 6 group A member 1
Background Nuclear Receptor Subfamily 6 Group A Member 1 (NR6A1), also known as Germ Cell Nuclear Factor (GCNF), is a transcription factor involved in regulating gene expression during embryonic development and germ cell differentiation. NR6A1 is part of the nuclear receptor superfamily, which consi...
NR5A - nuclear receptor subfamily 5 group A member
Background The NR5A family, also known as the nuclear receptor subfamily 5 group A, encompasses a group of orphan nuclear receptors that play pivotal roles in various physiological processes, including development, metabolism, and reproduction. This family includes two main members: NR5A1 (also know...
NR4A1 - nuclear receptor subfamily 4 group A member
Background NR4A1, also known as Nur77, NGFI-B, and TR3, is a member of the nuclear receptor subfamily 4 group A. It is an immediate-early response gene that plays a crucial role in the regulation of various physiological processes, including metabolism, inflammation, apoptosis, and cell proliferatio...
ESRR - estrogen related receptor
Background Estrogen-Related Receptors (ESRRs) are a group of orphan nuclear receptors that share structural similarity with estrogen receptors (ERs) but do not bind to estrogen. Despite this, they are involved in the regulation of a wide range of biological processes similar to those governed by ERs...
ESR - estrogen receptor
Background The estrogen receptor (ER) is a critical nuclear receptor that mediates the effects of estrogen, a key hormone involved in the regulation of various physiological processes. Estrogen receptors are predominantly found in the reproductive tissues, such as the breast, uterus, and ovaries, bu...
PGR - progesterone receptor
Background The progesterone receptor (PGR) is a member of the nuclear receptor superfamily that mediates the effects of the steroid hormone progesterone. Progesterone plays crucial roles in regulating the menstrual cycle, maintaining pregnancy, and influencing other reproductive tissues. The recepto...
NR3C - nuclear receptor subfamily 3 group C member
Background NR3C refers to a group of receptors within the nuclear receptor subfamily 3, group C, which includes some of the most well-studied receptors, such as the glucocorticoid receptor (NR3C1), mineralocorticoid receptor (NR3C2), progesterone receptor (NR3C3), and androgen receptor (NR3C4). Thes...
AR - androgen receptor
Background The androgen receptor (AR) is a type of nuclear receptor that is activated by binding to androgens, which are male sex hormones such as testosterone and dihydrotestosterone (DHT). AR plays a pivotal role in the development and maintenance of male characteristics and reproductive activity....
NR2F - nuclear receptor subfamily 2 group F member
Background The NR2F family, part of the nuclear receptor subfamily 2 group F, encompasses the NR2F1 (COUP-TF1) and NR2F2 (COUP-TF2) receptors. These nuclear receptors are crucial for various developmental processes, including organogenesis, angiogenesis, and cellular differentiation. They are widely...
NR2E - nuclear receptor subfamily 2 group E member
Background Nuclear receptor subfamily 2 group E members, specifically NR2E1 (also known as TLX) and NR2E3 (also known as PNR), are orphan nuclear receptors that play critical roles in neurodevelopment, vision, and other physiological processes. These receptors are particularly important in the centr...
NR2C - nuclear receptor subfamily 2 group C member
Background The nuclear receptor subfamily 2 group C members, including NR2C1 and NR2C2, are orphan nuclear receptors that play pivotal roles in various biological processes such as development, metabolism, and cellular differentiation. NR2C1 (also known as TR2) and NR2C2 (also known as TR4) are cruc...
NR1D - nuclear receptor subfamily 1 group D member
Background Nuclear receptor subfamily 1 group D member (NR1D) comprises two closely related genes, NR1D1 and NR1D2, which encode the nuclear receptors REV-ERBα and REV-ERBβ, respectively. These receptors are integral components of the circadian rhythm regulation and metabolic processes. NR1D1 (REV-E...
BCAR scaffold protein, Cas family member
Background BCAR1 (Breast Cancer Anti-Estrogen Resistance Protein 1), also known as p130Cas (Crk-associated substrate), is a signaling protein that plays a pivotal role in various cellular processes such as migration, invasion, survival, and proliferation. Originally identified in a screen for genes ...
APPL - DCC-interacting protein 13
Background APPL (Adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper containing 1), also known as DCC-interacting protein 13 (DIP13), plays a crucial role in various cellular processes, including signal transduction, endocytosis, and apoptosis. It is highly conserved across s...
APBB1IP - Amyloid beta A4 precursor protein-binding family B member 1-interacting protein
Background APBB1IP, also known as Rap1-GTP-interacting adapter molecule (RIAM), is a crucial protein involved in integrin activation and signal transduction pathways. It belongs to the MRL (Mig-10/RIAM/Lamellipodin) family of adaptor proteins, which play significant roles in cell migration and adhes...
TAS2R - Taste receptor type 2 member
Background: Taste receptor type 2 (TAS2R) receptors, also known as bitter taste receptors, are a class of taste receptors responsible for detecting bitter compounds in foods and beverages. They play a crucial role in protecting organisms from ingesting potentially harmful or toxic substances. T...
TAS1R - Taste receptor type 1 member
Background:TAS1R receptors, also known as taste receptor type 1, are a class of taste receptors responsible for detecting sweet and umami (savory) tastes in humans and other vertebrates. They are integral to the perception of these taste qualities, which play significant roles in food selection, nut...
PPAR - peroxisome proliferator activated receptor
Background Peroxisome proliferator-activated receptors (PPARs) are a group of nuclear receptor proteins that function as transcription factors regulating the expression of genes. PPARs play essential roles in the regulation of cellular differentiation, development, metabolism (particularly lipid met...
THR - thyroid hormone receptor
Background Thyroid hormone receptors (THRs) are nuclear receptors that mediate the effects of thyroid hormones, primarily triiodothyronine (T3) and thyroxine (T4). These hormones are critical for the regulation of metabolism, development, and differentiation in nearly all tissues of vertebrates. THR...
RAR - retinoic acid receptor
Background Retinoic acid receptors (RARs) are a family of nuclear receptors that mediate the biological effects of retinoic acid (RA), the active metabolite of vitamin A. They play a crucial role in the regulation of gene expression during embryonic development, cellular differentiation, and homeost...