33241 Results for: "Eosin+Y&pageNo=68"

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Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

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Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity).

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Multifunctional protein working as a cell cycle progression factor as well as a cell survival factor. Required for the progression from the G1 to the S phase. Anti-apoptotic protein which functions as a caspase-3 inhibitor. Has no phosphatase 2A (PP2A) inhibitor activity (By similarity). Exhibits histone chaperone properties, stimulating core histones to assemble into a nucleosome.

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AASDHPPT (aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase), also known as LYS2, LYS5 or CGI-80, is a 309 amino acid protein that localizes to the cytoplasm and belongs to the P-Pant transferase superfamily. Expressed in testis, liver, kidney, heart, brain, placenta and skeletal muscle, AASDHPPT exists as a monomer that functions to catalyse the phosphopantetheine-dependent post-translational modification of target proteins, effectively transferring a 4'-phosphopantetheine moiety from coenzyme A (CoA) to a serine residue of an acceptor protein. AASDHPPT is subject to DNA damage-dependent phosphorylation, probably by ATM or ATR. The gene encoding AASDHPPT maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome.

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Proliferation-associated nucleolar antigen is expressed in mid G1 phase with peak level during the S phase and a rapid degradation during late mitosis. Its expression in breast carcinoma is correlated with patient prognosis.

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Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes (By similarity). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions.

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Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf43 gene product has been provisionally designated C7orf43 pending further characterisation.

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Members of the BAGE gene family encode antigens that are recognised by cytotoxic T lymphocytes and are also known as CT (cancer/testis) antigens. Generated by juxtacentromeric shuffling of the MLL3 gene, the ancestral BAGE gene was expanded by acrocentric exchanges and/or juxtacentromeric movements.Generally, BAGE proteins are silent in all normal tissues with the exception of testis. BAGE2 and BAGE 3 (B melanoma antigen 2 and 3, respectively), also known as Cancer/testis antigen 2.2 and 2.3 (respectively), are 109 amino acid secreted proteins that are expressed in 22% of melanomas, lung and bladder carcinomas, and are also expressed in normal testis tissue. Like the genes encoding MAGE proteins, BAGE genes are most likely silenced by DNA methylation and/or chromatin compaction in normal tissues other than testis.

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LRRFIP1 is an 738 amino acid human protein whose rodent counterpart is known as Lrrfip1 (also designated FLAP in mouse). LRRFIP1 is also believed to control smooth muscle cell proliferation following arterial injury through PDGF-A repression. The N-terminus of LRRFIP1 shows high homology to the coiled-coil domain of FLAP, a protein which binds the leucine-rich repeat (LRR) of Flightless I, and the interaction of LRRFIP1 with the LRR of Flightless I has been confirmed. LRRFIP1 does not bind single-stranded DNA or RNA significantly and binds double-stranded DNA weakly. In contrast, LRRFIP1 binds double-stranded RNA with high affinity, and two molecules of LRRFIP1 bind the TaR stem. The RNA binding domain has been identified and encompasses a lysine-rich motif. Flightless I has a C-terminal TaR-like domain which binds Actin and therefore the association of LRRFIP1 with the LRR of Flightless I may provide a link between the Actin cytoskeleton and RNA in mammalian cells.

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Velis are a family of small synaptic proteins that interact with other proteins at the post-synaptic density (PSD) of neuronal synapses. Velis contain the PDZ motif involved in recruiting cell adhesion molecules, receptors, and channels. Veli1 (also designated Lin-7A and MALS-1), Veli2 (also designated Lin-7B and MALS-2), and Veli3 (also designated Lin-7C and MALS-3) are mammalian homologs of C. elegans LIN-7. Veli proteins are ubiquitously expressed with high expression in brain, liver, and testis. Velis are localised at the synaptic junctions in neurons. Velis bind to CASK, a neurexin-binding protein highly concentrated in synapses, and Mint1, a binding partner with a vesicle trafficking protein.

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Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation.

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AIM1L.

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The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterised by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene.

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Sulfation is an essential conjugation reaction that increases the water solubility of many compounds, thereby influencing their renal excretion and also resulting in the formation of active metabolites. SULT4A1 (sulfotransferase family 4A, member 1), whose alternative names include brain sulfotransferase-like protein, nervous system sulfotransferase, NST, SULTX3, hBR-STL-1, BRSTL1, BR-STL-1, MGC40032 and DJ388M5.3, is a 284 amino acid protein showing cytoplasmic localisation. As a member of the sulfotransferase 1 family, SULT4A1 plays a role in elimination of xenobiotics, activation of procarcinogens and regulation of hormones. SULT4A1 is highly expressed in cerebral cortex and frontal lobe, with lower expression in cerebellum, temporal and occipital lobes. Two SULT4A1 isoforms exist to alternative splicing events. The gene encoding SULT4A1 maps to human chromosome 22q13.2, a region which has been implicated in predisposition to schizophrenia.

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Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase.

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BPGM (2,3-bisphosphoglycerate mutase) is a 259 amino acid protein that belongs to the phosphoglycerate mutase family and exists as a homodimer that plays a crucial role in the regulation of hemoglobin oxygen. Specifically, BPGM catalyses the conversion of 3-D-glyceroyl phosphate to 2,3-bisD-glycerate (2,3-BPG), a reaction that is essential for controlling the concentration of 2,3-BPG within the cell. The gene encoding BPGM maps to human chromosome 7, which houses over 1000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localised to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. Involvement in disease: Defects in BPGM are the cause of bisphosphoglycerate mutase deficiency (BPGMD). A disease characterised by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis.

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OCEL1, is a 264 amino acid protein that is encoded by a gene which maps to human chromosome 19. Chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognised for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin (Ig) superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family and Fc receptors (FcRs). Key genes for eye color and hair color also map to chromosome 19.

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Apoptotic signals are often triggered by cell surface death receptors through protein-protein interactions mediated by conserved domains such as the death effector domain. A novel death effector domain (DED)-containing protein, DEDD2, has been recently identified. Over-expression of DEDD2 in transfected cells induces moderate apoptosis and results in substantial sensitisation to apoptosis induced by Fas, TRAIL, and FADD. More recently, it has been shown that DEDD2 can bind caspase-8 and -10 in addition to FLIP but not FADD. Like the related protein DEDD, DEDD2 translocates from the cytosol to the nucleus upon induction of apoptosis, and it has been suggested that DEDD2 may target caspase-8 to the nucleus and that DEDD2 thus plays a critical role in death receptor-induced apoptosis. At least two alternatively spliced transcript variants encoding distinct isoforms have been found for DEDD2.

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Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organisation and centrosome integrity.

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Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex involved in circadian clock function. The SCF(FBXL3) complex acts by mediating ubiquitination and subsequent degradation of CRY1 and CRY2. Recruiter of target protein that may recognise and bind to some phosphorylated proteins and promotes their ubiquitination and degradation.

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Putative O-methyltransferase.

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GALR1 is a G-protein-coupled receptor for the neuropeptide galanin that influences endocrine secretions, intestinal motility, memory, weight, and pain perception. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, and in peripheral sites such as the small intestine and heart. The rat galanin receptor cDNA cloned from an insulinoma cell line is a predicted 346-amino acid G protein-coupled receptor with 92% homology to the human GALR1.

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As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilises single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response. It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin in response to DNA damage. Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair. Plays also a role in base excision repair (BER) probably through interaction with UNG. Through RFWD3 may activate CHEK1 and play a role in replication checkpoint control. Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance.

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Agpat2 is a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. It is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in its have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterised by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterised.

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Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf57 gene product has been provisionally designated C7orf57 pending further characterisation.

Supplier: Bioss

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.

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C3orf24, also known as MGC40179, is a 177 amino acid protein that is encoded by a gene that maps to human chromosome 3p25.3. Chromosome 3 is made up of approximately 214 million bases encoding over 1100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumour suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.

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Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity (By similarity).

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The Beta-Amyloid precursor protein (Beta-APP) is a major constituent of the amyloid deposits in patients with Alzheimer's disease. The Beta-Amyloid precursor is known to interact with several proteins, including X11 and the G heterotrimetric protein APP-BP1. The neuronal, transmembrane protein X11 is known to bind to the -Amyloid precursor protein via a phosphotyrosine binding (PTB) domain, reducing the secretion of cellular Beta-APP and slowing Beta-APP processing pathways. X11 binds specifically to the YENPTY motif, which is involved in the internalisation of Beta-APP. Multiple splice varitents of X11 have been identified, including X11 Alpha (also designated Mint 1), X11 Beta (Mint 2) and X11 Gamma (Mint 3).

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C12orf56 (chromosome 12 open reading frame 56), also known as PRO1853 or protein midA homolog, is a 441 amino acid mitochondrial protein that belongs to the midA family. Existing as two alternatively spliced isoforms, C12orf56 is encoded by a gene that maps to human chromosome 2p22.2. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare 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 related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.