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Beschreibung:
Prion diseases or transmissible spongiform encephalopathies (TSEs) are manifested as genetic, infectious or sporadic, lethal neurodegenerative disorders involving alterations of the prion protein (PrP). Infectious PrPSc is highly expressed in the brain of animals affected by TSEs, including scrapie in sheep, BSE in cattle, and Cruetzfeldt-Jacob disease in humans. The PRND gene locus, located on human chromosome 20p, encodes for the doppel protein (Dpl), which exhibits approximately 25% sequence homology with PrP. Dpl is characterized by an alpha-helical conformation, intramolecular disulfide bonds, and two N-linked oligosaccharides, and it is presented on the cell surface by a glycosylphosphatidylinositol anchor. Dpl is highly expressed in adult testis and heart and is detectable in the brain of neonatal mice. Dpl does not appear to contribute to prion disease progression, but ectopic expression of Dpl is implicated in neuronal degeneration of ataxic PRP-deficient mice. Dpl is also thought to play a role in angiogenesis, specifically maturation of the blood-brain barrier.
Beschreibung:
Prion diseases or transmissible spongiform encephalopathies (TSEs) are manifested as genetic, infectious or sporadic, lethal neurodegenerative disorders involving alterations of the prion protein (PrP). Infectious PrPSc is highly expressed in the brain of animals affected by TSEs, including scrapie in sheep, BSE in cattle, and Cruetzfeldt-Jacob disease in humans. The PRND gene locus, located on human chromosome 20p, encodes for the doppel protein (Dpl), which exhibits approximately 25% sequence homology with PrP. Dpl is characterized by an alpha-helical conformation, intramolecular disulfide bonds, and two N-linked oligosaccharides, and it is presented on the cell surface by a glycosylphosphatidylinositol anchor. Dpl is highly expressed in adult testis and heart and is detectable in the brain of neonatal mice. Dpl does not appear to contribute to prion disease progression, but ectopic expression of Dpl is implicated in neuronal degeneration of ataxic PRP-deficient mice. Dpl is also thought to play a role in angiogenesis, specifically maturation of the blood-brain barrier.
Beschreibung:
The BTB (broad-complex, Tramtrack and Bric a brac) domain, also known as the POZ (Poxvirus and zinc finger) domain, is an N-terminal homodimerization domain that contains multiple copies of kelch repeats and/or C2H2-type zinc fingers. Proteins that contain BTB domains are thought to be involved in transcriptional regulation via control of chromatin structure and function. BTBD17 (BTB/POZ domain-containing protein 17), also known as BTBD17A, galectin-3-binding protein-like or LGALS3BPL, is a 478 amino acid protein that contains one BTB (POZ) domain and a BACK (BTB/Kelch associated) domain. The gene encoding BTBD17 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome.
Beschreibung:
Prion diseases or transmissible spongiform encephalopathies (TSEs) are manifested as genetic, infectious or sporadic, lethal neurodegenerative disorders involving alterations of the prion protein (PrP). Infectious PrPSc is highly expressed in the brain of animals affected by TSEs, including scrapie in sheep, BSE in cattle, and Cruetzfeldt-Jacob disease in humans. The PRND gene locus, located on human chromosome 20p, encodes for the doppel protein (Dpl), which exhibits approximately 25% sequence homology with PrP. Dpl is characterized by an alpha-helical conformation, intramolecular disulfide bonds, and two N-linked oligosaccharides, and it is presented on the cell surface by a glycosylphosphatidylinositol anchor. Dpl is highly expressed in adult testis and heart and is detectable in the brain of neonatal mice. Dpl does not appear to contribute to prion disease progression, but ectopic expression of Dpl is implicated in neuronal degeneration of ataxic PRP-deficient mice. Dpl is also thought to play a role in angiogenesis, specifically maturation of the blood-brain barrier.
Beschreibung:
Recognizes a 53 kDa protein, which is identified as p53 suppressor gene product. It reacts with the mutant as well as the wild form of p53 under denaturing and non-denaturing conditions. Its epitope maps within the N-terminus (aa 20-25) of p53 oncoprotein. p53 is a tumor suppressor gene expressed in a wide variety of tissue types and is involved in regulating cell growth, replication, and apoptosis. It binds to MDM2, SV40 T antigen and human papilloma virus E6 protein. Positive nuclear staining with p53 antibody has been reported to be a negative prognostic factor in breast carcinoma, lung carcinoma, colorectal, and urothelial carcinoma. Anti-p53 positivity has also been used to differentiate uterine serous carcinoma from endometrioid carcinoma as well as to detect intratubular germ cell neoplasia. Mutations involving p53 are found in a wide variety of malignant tumors, including breast, ovarian, bladder, colon, lung, and melanoma.
Beschreibung:
DERP6, is a 316 amino acid protein that localizes to the cytoplasm and exists as multiple alternatively spliced isoforms. Expressed ubiquitously with highest expression in liver, heart, testis, brain and skeletal muscle, DERP6 is thought to be involved in p53-mediated transcriptional regulation. The gene encoding DERP6 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes.
Beschreibung:
AMAP-1 (AMY-1-binding protein 1), also known as AMAM-1 or MYCBPAP (MYCBP associated protein), is a 947 amino acid protein that is expressed specifically in testis and is involved in spermatogenesis and synaptic processes. AMAP-1 colocalizes with MYCBP (AMY-1) in cytoplasm and also localizes to membrane. The gene encoding AMAP-1 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes.
Beschreibung:
Teneurin-3, also known as Ten-3, TNM3 or ODZ3, is a 2,699 amino acid single-pass type II membrane protein that contains 25 YD repeats, 8 EGF-like domains, 5 NHL repeats and one teneurin N-terminal domain. Localized to the membrane and expressed in brain, testis and ovary, Teneurin-3 exists as a disulfide-liked homodimer that is thought to function as a cellular signal transducer. Additionally, Teneurin-3 may participate in eye-specific patterning in the visual pathway and is required for aligned binocular vision. The gene encoding Teneurin-3 maps to chromosome 4. Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes, one of which is the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
Beschreibung:
Teneurin-3, also known as Ten-3, TNM3 or ODZ3, is a 2,699 amino acid single-pass type II membrane protein that contains 25 YD repeats, 8 EGF-like domains, 5 NHL repeats and one teneurin N-terminal domain. Localized to the membrane and expressed in brain, testis and ovary, Teneurin-3 exists as a disulfide-liked homodimer that is thought to function as a cellular signal transducer. Additionally, Teneurin-3 may participate in eye-specific patterning in the visual pathway and is required for aligned binocular vision. The gene encoding Teneurin-3 maps to chromosome 4. Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes, one of which is the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
Beschreibung:
AMAP-1 (AMY-1-binding protein 1), also known as AMAM-1 or MYCBPAP (MYCBP associated protein), is a 947 amino acid protein that is expressed specifically in testis and is involved in spermatogenesis and synaptic processes. AMAP-1 colocalizes with MYCBP (AMY-1) in cytoplasm and also localizes to membrane. The gene encoding AMAP-1 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes.
Beschreibung:
In mammalian cells, transcription is regulated in part by high molecular weight coactivating complexes that mediate signals between transcriptional activators and RNA polymerase (1). These complexes include CRSP (for cofactor required for Sp1 activation), which is required, in conjunction with TAFIIs, for transcriptional activation by Sp1 (2). CRSP is ubiquitously expressed in various tissues and functions as a multimeric complex that consists of nine distinct subunits (3). Several members of the CRSP family share sequence similarity with multiple components of the yeast transcriptional mediator proteins, including CRSP150, which is related to yeast Rgr1, and CRSP70, which is similar to the elongation factor TFIIS (4). CRSP77 and CRSP150 are also related to proteins within the putative murine mediator complex, while CRSP130 and CRSP34 are largely unrelated to either murine or yeast proteins (2,5). CRSP subunits also associate with larger multimeric coactivaor complexes, including ARC/DRI, which binds directly to SREBP and nuclear hormone receptors to facilitate transcription, and with NAT, a polymerase II-interacting complex that represses activated transcription (6,7).
Beschreibung:
In mammalian cells, transcription is regulated in part by high molecular weight coactivating complexes that mediate signals between transcriptional activators and RNA polymerase (1). These complexes include CRSP (for cofactor required for Sp1 activation), which is required, in conjunction with TAFIIs, for transcriptional activation by Sp1 (2). CRSP is ubiquitously expressed in various tissues and functions as a multimeric complex that consists of nine distinct subunits (3). Several members of the CRSP family share sequence similarity with multiple components of the yeast transcriptional mediator proteins, including CRSP150, which is related to yeast Rgr1, and CRSP70, which is similar to the elongation factor TFIIS (4). CRSP77 and CRSP150 are also related to proteins within the putative murine mediator complex, while CRSP130 and CRSP34 are largely unrelated to either murine or yeast proteins (2,5). CRSP subunits also associate with larger multimeric coactivaor complexes, including ARC/DRI, which binds directly to SREBP and nuclear hormone receptors to facilitate transcription, and with NAT, a polymerase II-interacting complex that represses activated transcription (6,7).
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