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Beschreibung:
A major contributor to cellular homeostasis is the ability of the cell to strike a balance between the formation and degradation/removal of its cellular components. This process of internal cellular turn-over is called autophagy (self-eating), and is facilitated by a pathway of around 16 interacting proteins in the human. LC3, a ubiquitin-like modifier protein, is the human homolog of yeast Apg8 and is involved in the formation of autophagosomal vacuoles, called autophagosomes. LC3 is expressed as 3 splice variants (LC3A, LC3B and LC3C), which exhibit different tissue distributions and are processed into cytosolic and autophagosomal membrane-bound forms, termed LC3-I and LC3-II, respectively. A disruption to the autophagic process is now associated with the progression of several cancers, neurodegenerative disorders and cardiac pathologies, where LC3 is widely employed as a marker for autophagy.
Beschreibung:
A major contributor to cellular homeostasis is the ability of the cell to strike a balance between the formation and degradation/removal of its cellular components. This process of internal cellular turn-over is called autophagy (self-eating), and is facilitated by a pathway of around 16 interacting proteins in the human. LC3, a ubiquitin-like modifier protein, is the human homolog of yeast Apg8 and is involved in the formation of autophagosomal vacuoles, called autophagosomes. LC3 is expressed as 3 splice variants (LC3A, LC3B and LC3C), which exhibit different tissue distributions and are processed into cytosolic and autophagosomal membrane-bound forms, termed LC3-I and LC3-II, respectively. A disruption to the autophagic process is now associated with the progression of several cancers, neurodegenerative disorders and cardiac pathologies, where LC3 is widely employed as a marker for autophagy.
Beschreibung:
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. SLITRK6 (SLIT and NTRK-like family, member 6) is an 841 amino acid single-pass type I membrane protein that contains 16 LRR repeats and belongs to the SLITRK family. Expressed at high levels in select brain tissue, as well as in both adult and fetal lung, SLITRK6 functions to suppress neurite outgrowth, playing a role in the regulation of neuronal function. Multiple isoforms of SLITRK6 exist due to alternative splicing events.
Beschreibung:
Three highly similar proteins termed NOMO1, NOMO2 and NOMO3, are encoded by a gene mapping to a region of duplication on the p arm of human chromosome 16. All three NOMO proteins share similar functions and have been difficult to characterize individually. NOMO1 (Nodal modulator 1), also known as PM5, is a 1,222 amino acid highly conserved single-pass type I membrane protein expressed in colon tumor tissue and normal colonic mucosa. NOMO proteins are novel antagonists of Nodal signaling which interact with Nicalin to form a Nicalin-NOMO complex, and are rapidly degraded or stabilized by Nicalin. NOMO proteins were once considered candidates for the development of pseudoxanthoma elasticum (PXE), a heritable disorder of connective tissue, as the NOMO genes are located in close proximity to the gene responsible for PXE development (MRP6).
Beschreibung:
The tetratricopeptide repeat (TPR) motif is a degenerate, 34 amino acid sequence found in many proteins and acts to mediate protein-protein interactions in various pathways. At the sequence level, there can be up to 16 tandem TPR repeats, each of which has a helix-turn-helix shape that stacks on other TPR repeats to achieve ligand binding specificity. TTC21B (tetratricopeptide repeat domain 21B), also known as THM1, is a 1,316 amino acid protein that contains 19 TPR repeats and belongs to the TTC21 family. Localizing to cytoplasm and cytoskeleton, TTC21B exists as two alternatively spliced isoforms and is thought to negatively regulate Shh signal transduction. TTC21B may also be involved in retrograde intraflagellar transport in cilia, and is encoded by a gene that maps to human chromosome 2q24.3.
Beschreibung:
Three highly similar proteins termed NOMO1, NOMO2 and NOMO3, are encoded by a gene mapping to a region of duplication on the p arm of human chromosome 16. All three NOMO proteins share similar functions and have been difficult to characterize individually. NOMO1 (Nodal modulator 1), also known as PM5, is a 1,222 amino acid highly conserved single-pass type I membrane protein expressed in colon tumor tissue and normal colonic mucosa. NOMO proteins are novel antagonists of Nodal signaling which interact with Nicalin to form a Nicalin-NOMO complex, and are rapidly degraded or stabilized by Nicalin. NOMO proteins were once considered candidates for the development of pseudoxanthoma elasticum (PXE), a heritable disorder of connective tissue, as the NOMO genes are located in close proximity to the gene responsible for PXE development (MRP6).
Beschreibung:
Three highly similar proteins termed NOMO1, NOMO2 and NOMO3, are encoded by a gene mapping to a region of duplication on the p arm of human chromosome 16. All three NOMO proteins share similar functions and have been difficult to characterize individually. NOMO1 (Nodal modulator 1), also known as PM5, is a 1,222 amino acid highly conserved single-pass type I membrane protein expressed in colon tumor tissue and normal colonic mucosa. NOMO proteins are novel antagonists of Nodal signaling which interact with Nicalin to form a Nicalin-NOMO complex, and are rapidly degraded or stabilized by Nicalin. NOMO proteins were once considered candidates for the development of pseudoxanthoma elasticum (PXE), a heritable disorder of connective tissue, as the NOMO genes are located in close proximity to the gene responsible for PXE development (MRP6).
Beschreibung:
Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHB14 (Protocadherin beta 14) is a 798 amino acid protein that is one of 16 proteins in the protocadherin beta cluster. Unlike the alpha and gamma gene clusters whos genes are spliced to downstream constant region exons during transcription, members of the beta cluster (such as PCDHB14) do not use constant-region exons to produce mRNAs. As a result, each protocadherin beta gene encodes the transmembrane, extracellular and short cytoplasmic domains of the protein. Localized to the cell membrane, PCDHB14 is a single-pass type I membrane protein that contains six cadherin domains.
Beschreibung:
The tetratricopeptide repeat (TPR) motif is a degenerate, 34 amino acid sequence found in many proteins and acts to mediate protein-protein interactions in various pathways. At the sequence level, there can be up to 16 tandem TPR repeats, each of which has a helix-turn-helix shape that stacks on other TPR repeats to achieve ligand binding specificity. TTC21B (tetratricopeptide repeat domain 21B), also known as THM1, is a 1,316 amino acid protein that contains 19 TPR repeats and belongs to the TTC21 family. Localizing to cytoplasm and cytoskeleton, TTC21B exists as two alternatively spliced isoforms and is thought to negatively regulate Shh signal transduction. TTC21B may also be involved in retrograde intraflagellar transport in cilia, and is encoded by a gene that maps to human chromosome 2q24.3.
Beschreibung:
Belonging to the glycosyltransferase 14 family, GCNT7, also known as Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7, is a 430 amino acid glycosyltransferase that is localized to the Golgi apparatus. Other members of this family include GCNT1, GCNT2, GCNT3, GCNT4 and GCNT6. GCNT1 has been shown to play an important regulatory role in the biosynthesis of mucin-type O-glycans, which serve as ligands in cell adhesion. Specifically, GCNT1 expression in leukocytes regulates the synthesis of core 2 O-glycans that carry sialyl-Lewis x (sLex) oligosaccharides, which confer high affinity binding to Selectin proteins. Since downregulation of Selectin ligand expression has been shown to inhibit tissue infiltration, glycosyltransferase 14 family members represent potential drug targets for the treatment of inflammatory disorders and other pathologies involving Selectin proteins.
Beschreibung:
Semaphorins are a family of cell surface and secreted proteins involved in neural development that are conserved from insects to humans. Members of this family are approximately 750 amino acids in length (including signal sequences) and are defined by a conserved extracellular “semaphorin†domain of approximately 500 amino acids containing 14-16 cysteines, blocks of conserved sequences and no obvious repeats. The transmembrane semaphorins are characterized by an additional 80 amino acid transmembrane domain and an 80-110 amino acid cytoplasmic domain. SEMA6C, also known as SEMA Y, is a transmembrane protein expressed in fetal brain and adult skeletal muscle. Three isoforms of this semaphorin exist due to alternative splicing: SEMA6C 1, SEMA6C 2 and SEMA6C 3. The extracellular domain of SEMA6C induces growth cone collapse of dorsal root ganglion and plays a role in generation or stability of entorhino-hippocampal synapses.
Beschreibung:
Belonging to the glycosyltransferase 14 family, GCNT7, also known as Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7, is a 430 amino acid glycosyltransferase that is localized to the Golgi apparatus. Other members of this family include GCNT1, GCNT2, GCNT3, GCNT4 and GCNT6. GCNT1 has been shown to play an important regulatory role in the biosynthesis of mucin-type O-glycans, which serve as ligands in cell adhesion. Specifically, GCNT1 expression in leukocytes regulates the synthesis of core 2 O-glycans that carry sialyl-Lewis x (sLex) oligosaccharides, which confer high affinity binding to Selectin proteins. Since downregulation of Selectin ligand expression has been shown to inhibit tissue infiltration, glycosyltransferase 14 family members represent potential drug targets for the treatment of inflammatory disorders and other pathologies involving Selectin proteins.
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