54840 Results for: "Markery,+d\u0142ugopisy+i+grawery&pageNo=48"

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Fyb (Fyn binding protein) and the anchoring proteins SKAP55 (src kinase-associated phosphoprotein) and SKAP55-R (SKAP55-related protein) associate with the tyrosine kinase p59fyn (1–3). SKAP55 and SKAP55-R bind to Fyb through their SH3 domains and function as substrates for p59Fyn in resting T cells (1–3). SKAP55 contains an amino-terminal pleckstrin homology domain and a carboxy-terminal SH3 domain binding motif of adjacent arginine and lysine residues followed by tandem tyrosines (i.e. RKxxYxxY) (4,5). SKAP55-R, similar in overall structure to SKAP55, contains a coiled-coil N-terminal domain (1,2). SKAP55 associates with SLAP-130, another component of the Fyn complex, which plays a role in the regulation of signaling events initiated by lymphocyte antigen receptors leading up to T cell activation (6). The human Fyb gene maps to chromosome 5p13.1 and encodes a 783 amino acid protein (7).

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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. The GTPase Rab24 is thought to be involved in the regulation of vesicular transport associated with autophagy.

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Receptor for SEMA4D. Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration.

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The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions.

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The cadherins are a family of Ca++-dependent adhesion molecules that function to mediate cell-cell binding critical to the maintenance of tissue structure and morpho-genesis (1-4). Cadherins each contain a large extracellular domain at the amino terminus, which is characterized by a series of five homologous repeats, the most distal of which is thought to be responsible for binding specificity (5,6). The relatively short carboxy terminal, intracellular domain interacts with a variety of cytoplasmic proteins, including catenin b, to regulate cadherin function (7). BR-cadherin (for brain-cadherin, also designated cadherin-12 or N-cadherin 2) is expressed specifically in neurons in the central nervous system and is thought to be involved in neuronal development (8).

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This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described. [provided by RefSeq, May 2010]

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TSPAN3 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell surface proteins that are characterized 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. The use of alternate polyadenylation sites has been found for this gene. Two alternative transcripts encoding different isoforms have been described.

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HABP4.

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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.

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DDAH, a dimethylarginine dimethylaminohydrolase, hydrolyzes dimethyl arginine (ADMA) and monomethyl arginine (MMA), both inhibitors of nitric oxide synthases, and may be involved in in-vivo modulation of nitric oxide production (1,2). Impairment of DDAH causes ADMA accumulation and a reduction in cGMP generation (3). DDAH II, the predominant DDAH isoform in endothelial cells, facilitates the induction of nitric oxide synthesis by all-trans-Retinoic acid (atRA) (4). DDAH proteins are highly expressed in colon, kidney, stomach and liver tissues (1).

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The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009].

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Retinoic acid induced 1 (RAI1) is a 1,906 amino acid protein containing an N-terminal polyglutamine stretch that is expressed in most tissues, with highest expression in neuronal tissues. RAI1 functions as a transcriptional regulator and is important for embryonic and postnatal developments. Heterozygous deletions of the RAI1 gene are associated with Smith-Magenis syndrome (SMS), a mental retardation syndrome with behavioral, neurological and skeletal anomalies. Individuals affected with SMS usually display self-injurious behaviors, sleep disturbance, developmental delay and reduced motor and cognitive skills. RAI1 haploinsufficiency is specifically responsible for the obesity and craniofacial symptoms of SMS. RAI1 mutations have also been implicated in schizophrenia and spinocerebellar ataxia type 2.

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Prevents the interaction between CTNNB1 and TCF family members, and acts as negative regulator of the Wnt signaling pathway.

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Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in response to low doses of ionizing radiation and for efficient repair of DNA double strand breaks (DSBs) specifically when modified by C-terminal phosphorylation.

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Produced by macrophages, IFN alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.

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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. The C1orf189 gene product has been provisionally designated C1orf189 pending further characterization.

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The peroxisomal membrane contains several ATP-binding cassette (ABC) transporters, ABCD1–4 that are known to be present in the human peroxisome membrane (1). All four proteins are ABC half-transporters, which dimerize to form an active transporter (1). A mutation in the ABCD1 causes X-linked adrenoleukodystrophy (X-ALD), a peroxisomal disorder which affects lipid storage (2,3). ABCD2 in mouse, is expressed at high levels in the brain and adrenal organs, which are adversely affected in X-ALD (4). The peroxisomal membrane comprises 2 quantitatively major proteins, PMP22 and ABCD3 (5). ABCD3 is associated with irregularly shaped vesicles which may be defective peroxisomes or peroxisome precursors (5). ABCD4 localizes to peroxisomes (1). The genes which encode ABCD1–4 map to human chromosome Xq28, 12q11-q12, 1p22-p21 and 14q24.3, respectively (3,6–8). ABCB7 is a half-transporter involved in the transport of heme from the mitochondria to the cytosol and maps to human chromosome Xq13.1-q13.3 (9).

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The Annexins constitute a family of structurally-related, relatively abundant proteins that exhibit Ca2+-dependent binding to phospholipids. Annexins function in multiple aspects of cell biology including regulation of membrane trafficking, transmembrane channel activity, inhibition of phospholipase A2, inhibition of coagulation and mediation of cell-matrix interactions. Annexin A13 is considered the original progenitor of the 12 members of vertebrate Annexins. The expression of Annexin A13 is highly tissue-specific, being expressed only in intestinal and kidney epithelial cells. This expression is associated with a highly differentiated intracellular transport function. Two alternative splicing isoforms of Annexin A13 exist, both of which bind to rafts.

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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. The C1orf162 gene product has been provisionally designated C1orf162 pending further characterization.

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Calcium channels mediate the influx of calcium ions into the cell following membrane polarisation. R-type calcium channels such as Cav2.3 belong to the "high voltage-activated" group and are blocked by nickel. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Each of these proteins exists as multiple isoforms, either encoded by different genes or arising from alternative splicing of transcripts. Cav2.3 is an alpha-1 subunit and has 24 transmembrane segments, which form the pore through which ions pass into the cell. Calcium channels containing the Cav2.3 subunit may be involved in the modulation of firing patterns of neurons, which is important for information processing.

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C7orf72.

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Mig-2 recruits migfilin to cell-matrix adhesions, while the interaction with filamin mediates the association of migfilin with actin filaments. Together, Mig-2, migfilin and filamin define a connection between cell matrix adhesions and the actin cytoskeleton and participate in the orchestration of actin assembly and cell shape modulation. Mig-2 expression is transcriptionally elevated in leiomyomas and could be involved in its hormone-mediated growth of leiomyomas of the uterus. Expression of Mig-2 is ubiquitous, and it is found in numerous tumor tissues.

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Gross cystic disease is a common premenopausal disorder in which gross cysts are the predominant pathologic lesion. It is characterized by production of a fluid secretion which accumulates in the breast cysts. Gross cystic disease fluid is a pathologic secretion from breast composed of several glycoproteins, including a unique 15 kDa monomer protein, GCDFP 15. The cells within the body that produce GCDFP 15 appear to be restricted primarily to those with apocrine function. Studies have found GCDFP 15 to be a highly specific and sensitive marker for breast cancer.

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Esophagin, also known as small proline-rich protein 3 (SPR3) or Cornifin ∫, belongs to the cornifin family of cornified-envelope structural proteins. It is expressed in mucosal epithelia such as esophagus and tongue and is strongly induced during epidermal keratinocyte differentiation. Due to its highly inducible nature, Esophagin is considered a marker of squamous differentiation. Esophagin serves as a cross-linking protein within the cornified cell envelope and may play a role in the maintenance of normal esophageal epithelial homeostasis. It shares significant homology with the related proteins, SPRR1 and SPRR2. Esophagin is typically not expressed in healthy human epithelium, but its expression is upregulated in numerous hyperproliferative disorders of the skin. Contrastly, its expression is dramatically downregulated in esophageal squamous cell carcinoma.

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E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair. The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in proteasomal degradation. Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme, like CDC34, to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M.

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The septins are a family of cytoskeletal GTPases that play an essential role in cytokinesis in mammalian cells. Septin 2 (Nedd5) is a mammalian septin known to associate with actin based structures such as the contractile ring and stress fibers. It is involved in cytokinesis and may assemble into a multicomponent structure.

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Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. Probably involved in regulating mitochondrial respiration activity and in aging.

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Involved in transcriptional regulation. Transcriptional activity differed among the various isoforms. All isoforms except isoform 3 seem to suppresses the transcriptional activities of AP-1 and p53/TP53.Tissue specificity:Expressed in all tissues examined. Isoforms are differentially expressed. Isoform 3 and isoform 5 were highly expressed, isoform 4 moderately expressed, isoform 2 lower expression, the lowest expression level was seem with isoform 1.

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Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling and degradation of macromolecules. Arylsulfatase H, also known as ARSH, is a 562 amino acid protein that belongs to the sulfatase family of bone and cartilage matrix proteins. Localized to the plasma membrane, Arylsulfatase H uses calcium as a cofactor to hydrolyze sulfate esters. The gene encoding Arylsulfatase D maps to human chromosome X, which contains nearly 153 million base pairs and houses over 1,000 genes. In conjunction with chromosome Y, chromosome X is responsible for sex determination. There are a number of conditions related to an abnormal number and combination of sex chromosomes, some of which include Turner's syndrome, color blindness, hemophilia and Duchenne muscular dystrophy.

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May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21.Tissue specificity: Ubiquitously expressed with higher levels in testis.