Supplier: Bioss

SMARCD3, is a member of the SMARCD family and contains one SWIB domain. Two isoforms, isoform 1 and isoform 2 exist due to alternative splicing events. Both isoforms are expressed in placenta, salivary gland, kidney, brain, trachea, uterus, prostate, testis, thyroid, spleen and heart, while isoform 1 is also expressed in adipose tissue and skeletal muscle. Localizing to the nucleus, SMARCD3 is a component of the ATP-dependent chromatin remodeling complex SNF/SWI and is believed to play a role in nucleosome remodeling. SMARCD3 also plays an important role in the regulation of muscle development. In mice, the silencing of the gene en-coding SMARCD3 leads to defects in heart morphogenesis. In addition, both isoforms of SMARCD3 directly interact with and function as coactivators for several transcription factors.

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Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically.

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The 26S protease is involved in the ATP-dependent degradation of ubiquitinated proteins. The regulatory (or ATPase) complex confers ATP dependency and substrate specificity to the 26S complex. In case of HIV-1 infection, positive modulator of Tat-mediated transactivation.

Supplier: Bioss

Ubiquitin-dependent proteolysis mediates selective destruction of various cell cycle regulators, transcription factors and tumor suppressors. In eukaryotic cells, selective breakdown of cellular proteins is ensured by their ubiquitination and subsequent degradation by the 26S proteasome. At specific stages of development, embryo- and tissue-specific components of the 26S proteasome form, facilitating proteolysis. 20S Proteasome ?, also designated macropain subunit C2 or PROS-30, is a prosomal protein involved in a non-lysosomal ATP/ubiquitin-dependent proteolytic pathway. The entire proteasome is composed of at least 15 non-identical subunits which form a highly-ordered ring-shaped structure.

Supplier: Bioss

The ADP-ribosylation factor (ARF) protein family are structurally and functionally conserved members of the Ras superfamily of regulatory GTP-binding proteins (1–3). ARFs influence vesicle trafficking and signal transduction in eukaryotic cells (1–3). ARF-dependent regulatory mechanisms include the coordination of spectrin interactions with golgi membranes and the association of actin to the golgi via rho family-dependent G-protein localization (Rac, CDC42) and WASP/Arp2/3 complexes (3–7). Additionally, ARFs play a central role in maintenance of organelle integrity, assembly of coat proteins, and activation of phospholipase D (5–7). The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6); members of each class share a common gene organization (8,9). The human ARF6 gene maps to chromosome 7q22.1, contains five exons and four introns, and encodes a 175 amino acid protein (8,9).

Supplier: Bioss

The 26S protease is involved in the ATP-dependent degradation of ubiquitinated proteins. The regulatory (or ATPase) complex confers ATP dependency and substrate specificity to the 26S complex. In case of HIV-1 infection, positive modulator of Tat-mediated transactivation.

Supplier: Bioss

The ADP-ribosylation factor (ARF) protein family are structurally and functionally conserved members of the Ras superfamily of regulatory GTP-binding proteins (1–3). ARFs influence vesicle trafficking and signal transduction in eukaryotic cells (1–3). ARF-dependent regulatory mechanisms include the coordination of spectrin interactions with golgi membranes and the association of actin to the golgi via rho family-dependent G-protein localization (Rac, CDC42) and WASP/Arp2/3 complexes (3–7). Additionally, ARFs play a central role in maintenance of organelle integrity, assembly of coat proteins, and activation of phospholipase D (5–7). The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6); members of each class share a common gene organization (8,9). The human ARF6 gene maps to chromosome 7q22.1, contains five exons and four introns, and encodes a 175 amino acid protein (8,9).

Supplier: Bioss

The ADP-ribosylation factor (ARF) protein family are structurally and functionally conserved members of the Ras superfamily of regulatory GTP-binding proteins (1–3). ARFs influence vesicle trafficking and signal transduction in eukaryotic cells (1–3). ARF-dependent regulatory mechanisms include the coordination of spectrin interactions with golgi membranes and the association of actin to the golgi via rho family-dependent G-protein localization (Rac, CDC42) and WASP/Arp2/3 complexes (3–7). Additionally, ARFs play a central role in maintenance of organelle integrity, assembly of coat proteins, and activation of phospholipase D (5–7). The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6); members of each class share a common gene organization (8,9). The human ARF6 gene maps to chromosome 7q22.1, contains five exons and four introns, and encodes a 175 amino acid protein (8,9).

Supplier: Bioss

ADP-ribosylation factors (ARFs) are highly conserved guanine nucleotide-binding proteins that enhance the ADP-ribosyltransferase activity of cholera toxin. ARF抯 are important in eukaryotic vesicular trafficking pathways and activating phospholipase D. ARL4 (ADP-ribosylation factor-like protein 4A) is a member of the ARF-like protein (ARL) subfamily of small GTPases. It contains a C terminal nuclear localization signal (NLS) region that interacts with Importin-? ARL4 localizes to the nucleus and is found in a variety of tissues, but is predominantly expressed in spermatogonia and Sertoli cells. It is most closely related to ARL6 and ARL7. Unlike ARFs, ARL4 does not activate the cholera toxin ADP-ribosyltranferase. ARL4 may play a role in neurogenesis during embryonic development and somitogenesis in the early stages of adult spermatogenesis.

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The CCR4-NOT complex is an evolutionarily conserved, multi-component complex known to be involved in transcription as well as mRNA degradation. Various subunits within the complex are involved in influencing nuclear hormone receptor activities. The CCR4-NOT complex is also involved in the regulation of Histone H3 lysine 4 methylation through a ubiquitin-dependent pathway that likely involves the proteasome. CNOT8 (CCR4-NOT transcription complex subunit 8), also known as CALIF or POP2, is a 292 amino acid protein that localizes to both the nucleus and the cytoplasm and functions as part of the CCR-NOT complex. Expressed ubiquitously, CNOT8 plays a role in transcriptional regulation for a diverse set of processes.

Supplier: Bioss

The CCR4-NOT complex is an evolutionarily conserved, multi-component complex known to be involved in transcription as well as mRNA degradation. Various subunits within the complex are involved in influencing nuclear hormone receptor activities. The CCR4-NOT complex is also involved in the regulation of Histone H3 lysine 4 methylation through a ubiquitin-dependent pathway that likely involves the proteasome. CNOT8 (CCR4-NOT transcription complex subunit 8), also known as CALIF or POP2, is a 292 amino acid protein that localizes to both the nucleus and the cytoplasm and functions as part of the CCR-NOT complex. Expressed ubiquitously, CNOT8 plays a role in transcriptional regulation for a diverse set of processes.

Supplier: Bioss

The CCR4-NOT complex is an evolutionarily conserved, multi-component complex known to be involved in transcription as well as mRNA degradation. Various subunits within the complex are involved in influencing nuclear hormone receptor activities. The CCR4-NOT complex is also involved in the regulation of Histone H3 lysine 4 methylation through a ubiquitin-dependent pathway that likely involves the proteasome. CNOT8 (CCR4-NOT transcription complex subunit 8), also known as CALIF or POP2, is a 292 amino acid protein that localizes to both the nucleus and the cytoplasm and functions as part of the CCR-NOT complex. Expressed ubiquitously, CNOT8 plays a role in transcriptional regulation for a diverse set of processes.

Supplier: Bioss

ADP-ribosylation factors (ARFs) are highly conserved guanine nucleotide-binding proteins that enhance the ADP-ribosyltransferase activity of cholera toxin. ARF抯 are important in eukaryotic vesicular trafficking pathways and activating phospholipase D. ARL4 (ADP-ribosylation factor-like protein 4A) is a member of the ARF-like protein (ARL) subfamily of small GTPases. It contains a C terminal nuclear localization signal (NLS) region that interacts with Importin-? ARL4 localizes to the nucleus and is found in a variety of tissues, but is predominantly expressed in spermatogonia and Sertoli cells. It is most closely related to ARL6 and ARL7. Unlike ARFs, ARL4 does not activate the cholera toxin ADP-ribosyltranferase. ARL4 may play a role in neurogenesis during embryonic development and somitogenesis in the early stages of adult spermatogenesis.

Supplier: Bioss

The CCR4-NOT complex is an evolutionarily conserved, multi-component complex known to be involved in transcription as well as mRNA degradation. Various subunits within the complex are involved in influencing nuclear hormone receptor activities. The CCR4-NOT complex is also involved in the regulation of Histone H3 lysine 4 methylation through a ubiquitin-dependent pathway that likely involves the proteasome. CNOT8 (CCR4-NOT transcription complex subunit 8), also known as CALIF or POP2, is a 292 amino acid protein that localizes to both the nucleus and the cytoplasm and functions as part of the CCR-NOT complex. Expressed ubiquitously, CNOT8 plays a role in transcriptional regulation for a diverse set of processes.

Supplier: Bioss

Heat-stable enterotoxins (STs) are secretory peptides produced by some bacterial strains of Escherichia coli.

Supplier: Bioss

Myo-inositol is involved in many important aspects of cellular regulation including membrane structure, signal transduction and osmoregulation. It is taken up into cells by the sodium/myo-inositol cotransporter (SMIT). SMIT activity maintains intracellular concentrations of myo-inositol; it is upregulated in response to hypertonic stress. The human SMIT protein is encoded by the SLC5A3 gene, which maps to chromosome 21q22.12. It is expressed in many human tissues, such as brain, kidney and placenta. Specifically, SMIT is abundantly expressed throughout the whole brain and spinal cord in fetal rat, but is downregulated in adult rat brain with the exception of the choroid plexus, where SMIT expression remains high. In kidney, SMIT localizes to the baso-lateral membranes of the thick ascending limb of Henle (TAL) and the inner medullary collecting duct (IMCD). Impaired SMIT activity is implicated in the pathogenesis of diabetes and Down syndrome.

Supplier: Bioss

Myo-inositol is involved in many important aspects of cellular regulation including membrane structure, signal transduction and osmoregulation. It is taken up into cells by the sodium/myo-inositol cotransporter (SMIT). SMIT activity maintains intracellular concentrations of myo-inositol; it is upregulated in response to hypertonic stress. The human SMIT protein is encoded by the SLC5A3 gene, which maps to chromosome 21q22.12. It is expressed in many human tissues, such as brain, kidney and placenta. Specifically, SMIT is abundantly expressed throughout the whole brain and spinal cord in fetal rat, but is downregulated in adult rat brain with the exception of the choroid plexus, where SMIT expression remains high. In kidney, SMIT localizes to the baso-lateral membranes of the thick ascending limb of Henle (TAL) and the inner medullary collecting duct (IMCD). Impaired SMIT activity is implicated in the pathogenesis of diabetes and Down syndrome.

Supplier: Bioss

Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.

Supplier: Bioss

Mouse protein 25 alpha (MO25 alpha, CAB39) is a 40-kDa protein that, together with the STE20-related adaptor-alpha (STRAD alpha) pseudo kinase, forms a regulatory complex capable of stimulating the activity of the LKB1 tumor suppressor protein kinase. The latter is mutated in the inherited Peutz-Jeghers cancer syndrome (PJS). CAB39 binds directly to a conserved Trp-Glu-Phe sequence at the STRAD alpha C terminus, markedly enhancing binding of STRAD alpha to LKB1 and increasing LKB1 catalytic activity. Skeletal muscle contraction results in the phosphorylation and activation of the AMP-activated protein kinase (AMPK) by an upstream kinase (AMPKK). The LKB1-STE-related adaptor (STRAD)-mouse protein 25 (MO25) complex is the major AMPKK in skeletal muscle; however, LKB1-STRAD-MO25 activity is not increased by muscle contraction. This relationship suggests that phosphorylation of AMPK by LKB1-STRAD-MO25 during skeletal muscle contraction may be regulated by allosteric mechanisms.

Supplier: Bioss

Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells.

Supplier: Bioss

The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), also known as LINX (leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein), is a 745 amino acid single-pass membrane protein that contains five LRR repeats, one Ig-like (immunoglobulin-like) domain, a LRRCT domain and one LRRNT domain. ISLR2 exists as a homomultimer and is essential for axon extension during neural development. The gene encoding ISLR2 maps to human chromosome 15q24.1.

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E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR.

Supplier: Bioss

Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. catalyses isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyse obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)-pregnene-3,2-dione, precursors to testosterone and progesterone, respectively.

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Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers, and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGFβ modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The C18orf56 gene product has been provisionally designated C18orf56 pending further characterization.

Supplier: Bioss

The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. ISLR2 (immunoglobulin superfamily containing leucine-rich repeat 2), also known as LINX (leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein), is a 745 amino acid single-pass membrane protein that contains five LRR repeats, one Ig-like (immunoglobulin-like) domain, a LRRCT domain and one LRRNT domain. ISLR2 exists as a homomultimer and is essential for axon extension during neural development. The gene encoding ISLR2 maps to human chromosome 15q24.1.

Supplier: Bioss

E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilisation of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR.

Supplier: Bioss

Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells.

Supplier: Bioss

C9orf30 is a 275 amino acid protein that is expressed in brain and belongs to the UPF0439 family. The gene encoding C9orf30 maps to human chromosome 9q31.1. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

Supplier: Bioss

Location-regulated scaffolding protein connecting MEK to RAF. Promotes MEK and RAF phosphorylation and activity through assembly of an activated signaling complex. By itself, it has no demonstrated kinase activity.

Supplier: Bioss

C9orf25 (chromosome 9 open reading frame 25) is a 185 amino acid protein that exists as seven alternatively spliced isoforms that are encoded by a gene located on human chromosome 9. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.