"Bioss"

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The transcriptional enhancer factor-1 (TEF-1) family of transcription factors regulate tissue-specific gene expression in muscle and placenta. The mechanism whereby TEF-1 confers tissue specificity depends largely on the interaction of TEF-1 with tissue-specific cofactors. Transcription cofactor Vgl-3 (vestigial-like protein 3), also known as colon carcinoma related protein, is a 326 amino acid nuclear protein that may act as a specific coactivator for the mammalian transcription elongation factors. Both Vgl-1 and Vgl-3 are enriched in placenta, whereas Vgl-2 is expressed in differentiating somites and branchial arches during embryogenesis and is skeletal-muscle specific in adult tissues. There are two isoforms of Vgl-3 that are produced as a result of alternative splicing events.

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Anti-MB Rabbit Polyclonal Antibody

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Expressed at low levels in a number of tissues.Sequence similarities: Belongs to the constitutive coactivator of PPAR-gamma family.

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Headpin is a skin-specific, UV-repressible serine proteinase inhibitor (serpin) belonging to the ovalbumin serpin family. Headpin is abundant in the human keratinocyte cell line HaCaT, and in lesional keratinocytes from psoriatic skin. Headpin downregulation occurs in squamous cell carcinoma of the oral cavity and in squamous cell carcinoma cell lines of the head and neck.

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This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].

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Members of the mTERF family, including MTERF, MTERFD1, MTERFD2 and MTERFD3, are mitochondrial proteins that are believed to be transcription termination factors. MTERF (mitochondrial transcription termination factor 1) is composed of 399 amino acids and contains three leucine zippers that form a three-stranded coiled-coil that binds to DNA. It has been suggested that only the phosphorylated form of MTERF has transcription termination activity. MTERFD1 is also thought to act as a mitochondrial transcription regulator and is expressed as two isoforms produced by alternative splicing. MTERFD3 is believed to be involved in cell cycle regulation and cell growth by modulating mitochondrial transcription. MTERFD3 is expressed in heart, skeletal muscle, pancreas and liver.

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Anti-AES Rabbit Polyclonal Antibody

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Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf50 gene product has been provisionally designated C12orf50 pending further characterisation.

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Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene. The FAM98 gene product has been provisionally designated FAM98 pending further characterization.

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Signaling adapter that couples activated growth factor receptors to signaling pathways. Participates in a signaling cascade initiated by activated KIT and KITLG/SCF. Isoform p46Shc and isoform p52Shc, once phosphorylated, couple activated receptor tyrosine kinases to Ras via the recruitment of the GRB2/SOS complex and are implicated in the cytoplasmic propagation of mitogenic signals. Isoform p46Shc and isoform p52Shc may thus function as initiators of the Ras signaling cascade in various non-neuronal systems. Isoform p66Shc does not mediate Ras activation, but is involved in signal transduction pathways that regulate the cellular response to oxidative stress and life span. Isoform p66Shc acts as a downstream target of the tumor suppressor p53 and is indispensable for the ability of stress-activated p53 to induce elevation of intracellular oxidants, cytochrome c release and apoptosis. The expression of isoform p66Shc has been correlated with life span (By similarity). Participates in signaling downstream of the angiopoietin receptor TEK/TIE2, and plays a role in the regulation of endothelial cell migration and sprouting angiogenesis.

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Cathelicidins are a family of antimicrobial proteins found in the peroxidase-negative granules of neutrophils. Along with the family of proteins known as defensins, cathelicidins participate in the first line of defense by preventing local infection and systemic invasion of microbes. FALL-39 precursor (FALL-39 peptide antibiotic, cationic anti-microbial protein, CAMP, CAP-18, HSD26) is a cathelicidin anti-microbial protein that contains the antibacterial peptide LL-37 (amino acids 134-170). In contrast to the defensins, which are cysteine-rich peptides that fold in -pleated sheets, LL-37 is a cysteine-free peptide that can adopt an amphipathic å-helical conformation. LL-37 binds to bacterial lipopolysaccharides (LPS) and is a potent chemotactic factor for recruiting mast cells to sites of inflammation. LL-37 is present in inflammatory skin diseases that include psoriasis, sub-acute lupus erthematosus, dermatitis and nickel contact hypersensitivity. It is not found in normal skin epidermis. The secreted protein is expressed primarily in bone marrow, testis and neutrophils. The mouse and rat ortholog, CRAMP (cathelin-related antimicrobial peptide), is also part of the cathelicidin family of host defense peptides. These include precursors of potent antimicrobial peptides that direct antimicrobial activity against various microbial pathogens and also activate mesenchymal cells during wound repair. CRAMP is expressed in testis, spleen, stomach and intestine.

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Adapter protein that links FGR and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Modulates signaling via SHC1 by competing for a common binding site on NTRK1.Tissue specificity:Highly expressed in heart, brain, spleen, lung, liver, skeletal muscle, kidney and testis.

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MARCH5 is a member of the E3 ubiquitin-protein ligase family. This mitochonrial E3 ubiquitin-protein ligase plays an importnat role in controlling the morphology of the mitochondria. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. MARCH5 has been shown to interact with MTFN2 and ubiquitinated forms of DRP1.

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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 TGF∫ modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The FAM59A gene product has been provisionally designated FAM59A pending further characterization.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf62 gene product has been provisionally designated C6orf62 pending further characterization.

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S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene.