"5-Amino-2-methylphenol&amp"

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NHLRC2 (NHL repeat containing 2) is a 726 amino acid protein that contains six NHL repeats and one thioredoxin domain. Existing as two alternatively spliced isoforms, NHLRC2 is encoded by a gene that maps to human chromosome 10q25.3. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.

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The Hox homeobox genes encode proteins that are transcriptional regulators with an established role in embryonic development. HoxA4 (homeobox A4), also known as HOX1D or HOX1, is a 320 amino acid protein that localizes to the nucleus and contains one homeobox DNA-binding domain. Expressed in the embryonic nervous system, HoxA4 functions as a sequence-specific DNA-binding transcription factor that is part of a regulatory mechanism that provides cells with positional identities during development. Via its ability to bind DNA, HoxA4 plays an important role in the regulation of gene expression, as well as morphogenesis and differentiation. The gene encoding HoxA4 maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.

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C19orf21 is a 679 amino acid protein that is encoded by a gene located on human chromosome 19. Chromosome 19 consists of approximately 63 million bases and makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fcα receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.

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Ig (immunoglobulin) superfamily members exhibit functional characteristics including immune responses, growth factor signaling and cell adhesion. IGSF10 (immunoglobulin superfamily, member 10), also known as Calvaria mechanical force protein 608 (CMF608), is a 2,623 amino acid secreted protein that contains an N-terminal signal peptide, six leucine-rich repeats (LRRs), and 12 immunoglobulin-like repeats. IGSF10 exists as multiple alternatively spliced isoforms, and is expressed in bone. Specifically, expression of IGSF10 is limited to mesenchymal osteochondroprogenitors with fibroblast-like morphology, where it is thought to be involved in the maintenance of the osteochondroprogenitor cells pool and its down-regulation precedes terminal differentiation. The gene encoding IGSF10 maps to chromosome 3, which comprises over 1,100 genes that include a chemokine receptor gene cluster as well as a variety of human cancer related loci.

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Lipin 1 is a member of the Lipin family of nuclear proteins. This family contains three members: Lipin 1, Lipin 2 and Lipin 3, all of which contain a nuclear signal sequence, a highly conserved amino-terminal (NLIP) domain and a carboxy-terminal (CLIP) domain. LPIN1 (Lipin 1) is crucial for normal adipose tissue development and metabolism. LPIN1 selectively activates a subset of PGC1 alpha target pathways, including fatty acid oxidation and mitochondrial oxidative phosphorylation by inducing expression of the nuclear receptor PPARalpha. LPIN1 also inactivates the lipogenic program and suppresses circulating lipid levels. An abundance of LPIN1 promotes fat accumulation and insulin sensitivity, whereas a deficiency in LPIN1 may deter normal adipose tissue development, resulting in insulin resistance and lipodystrophy, a heterogeneous group of disorders characterized by loss of body fat, fatty liver, hypertriglyceridemia and insulin resistance.

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DHRS7 (dehydrogenase/reductase (SDR family) member 7), also known as SDR34C1, CGI-86 or retSDR4, is a 339 amino acid member of the SDR family. Like other members of the SDR family, DHRS7 contains a cofactor-binding Rossman-fold domain and is thought to catalyze the oxidation and reduction of a variety of substrates such as steroids and retinoids. DHRS7 exists as two alternatively spliced isoforms that are encoded by a gene located on human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD). The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency, which is characterised by severe lung complications and liver dysfunction.

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C9orf139 (chromosome 9 open reading frame 139) is a 190 amino acid protein encoded by a gene that maps to human chromosome 9q34.3. 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.

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SLITRK family proteins are integral membrane proteins that have a C-terminal domain that is partially similar to TRK neurotrophin receptor proteins and two leucine-rich repeat (LRR) domains that are similar to those of SLIT proteins. SLITRK2 (SLIT and NTRK-like protein 2) is a 845 amino acid single-pass type I membrane protein that contains 14 LRR (leucine-rich) repeats and is expressed in neural tissues, with highest levels found in adult cerebral cortex. Overexpression of SLITRK2 leads to inhibition of unipolar neurites in cultured cells, suggesting that it suppresses neurite outgrowth. Inhibitory activity of SLITRK2 is localized to its C-terminal intracellular domain and without this region the protein induces neurite outgrowth. Variants in the gene encoding SLITRK2 may contribute to the development of bipolar disorder, autism spectrum disorder and schizophrenia. There are two isoforms of SLITRK2 that are produced as a result of alternative splicing events.

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Protein kinases comprise a large group of encoded factors that regulate cellular processes by catalyzing the transfer of a phosphate group to a hydroxyl acceptor in serine, threonine or tyrosine residues (1,2). Kinases are capable of influencing the oncogenic potential of cell sytems at the level of oncoprotein or tumor suppressor protein phosphorylation states (1,2). STAP-2 is a protein that contains a pleckstrin homology (PH) domain and an SH2 domain, and associates with BRK (3). BRK (breast tumor kinase, Sik) is a 451 amino acid, nonreceptor protein-tyrosine kinase that is overexpressed in breast tumors and metastatic melanoma cell lines (4). Similar to the Src family of intracellular kinses, BRK is comprised of an SH3 domain, an SH2 domain, and a catalytic domain (5). STAP-2 is susceptiple to tyrosine phosphorylation and may be invovled in tyrosine kinase-mediated signaling cascades, whose aberrant function may lead to metastis (3).

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mTOR controls cell growth, in part by regulating p70 S6 kinase alpha (p70alpha) and eukaryotic initiation factor 4E binding protein 1 (4EBP1). Raptor is a 150 kDa mTOR binding protein that also binds 4EBP1 and p70alpha. The binding of Raptor to mTOR is necessary for the mTOR-catalyzed phosphorylation of 4EBP1 in vitro, and it strongly enhances the mTOR kinase activity toward p70alpha. Rapamycin or amino acid withdrawal increases, whereas insulin strongly inhibits, the recovery of 4EBP1 and raptor on 7-methyl-GTP Sepharose. Partial inhibition of raptor expression by RNA interference (RNAi) reduces mTOR-catalyzed 4EBP1 phosphorylation in vitro. RNAi of C. elegans raptor yields an array of phenotypes that closely resemble those produced by inactivation of Ce-TOR. Thus, raptor is an essential scaffold for the mTOR-catalyzed phosphorylation of 4EBP1 and mediates TOR action in vivo.

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ANGEL2 is a 544 amino acid protein that belongs to the CCR4/nocturin family and exists as two alternatively spliced isoforms. The CCR4 family of proteins are 3′–5′-deadenylases that function in the first step of the degradation of poly(A) mRNA. The CCR4 family most likely displays both RNA and ssDNA substrate preferences, thereby implicating a potential role in many regulatory processes. The ANGEL2 gene maps to human chromosome 1 (1q32.3), which is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. Chromosome 1 contains about 3,000 genes, and considering the great number of genes there are also a large number of diseases associated with it. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons disease, Gaucher disease and Usher syndrome are also associated with chromosome 1.

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The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF130 (ring finger protein 130), also known as GP, G1RZFP (G1-related zinc finger protein) or GOLIATH, is a 419 amino acid single-pass type I membrane protein that shares similarity with a Drosophila zinc-finger protein found in mesoderm known as g1. RNF130 contains one PA (protease associated) domain and a single RING-type zinc finger. Implicated in the regulation of growth factor withdrawal-induced apoptosis of myeloid precursor cells, RNF130 is encoded by a gene located on human chromosome 5q35.3 and mouse chromosome 11 B1.3.

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C2orf53 (chromosome 2 open reading frame 53), also known as MGC44505, is a 412 amino acid protein that is encoded by a gene located on human chromosome 2p23.3. The second largest human chromosome, chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.

Supplier: Bioss

C9orf135 (chromosome 9 open reading frame 135) is a 229 amino acid single-pass membrane protein encoded by a gene that maps to human chromosome 9q21.11. 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

Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. As a member of the Krüppel C2H2-type zinc-finger protein family, ZNF323 (zinc finger protein 323) is a 406 amino acid protein containing six C2H2-type zinc fingers and one SCAN box domain. Specifically, C2H2-type zinc fingers function to bind DNA, while SCAN box domains are thought to participate in protein-protein interactions. Therefore, it is probable that ZNF323 functions as a transcription factor. With highest expression in kidney, liver and lung and weaker expression in brain, heart, intestine, muscle, cholecyst and pancreas, ZNF323 is localized to the nucleus. It is also suggested that ZNF323 may play a role in the development of multiple embryonic organs.

Supplier: Bioss

The BTB 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. RCBTB1 (regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1), also known as GLP, CLLD7, CLLL7 or E4.5, is a 531 amino acid protein that localizes to the nucleus and contains two BTB (POZ) domains and six RCC1 repeats. Expressed ubiquitously, RCBTB1 is thought to be involved in cell cycle regulation, specifically via chromatin remodeling. The gene encoding RCBTB1 maps to a region on human chromosome 13 that is frequently deleted in B-cell chronic lymphocytic leukemia, suggesting a possible role for RCBTB1 in tumor suppression.