54782 Results for: "Markery,+d\u0142ugopisy+i+grawery&pageNo=48"

Supplier: Bioss

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

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May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. May be involved in signaling of ITGB2/LFA-1 and other integrins. Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. Involved in activation of androgen and glucocorticoid receptor in the presence of their cognate hormones. Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity. Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA.Tissue specificity: Ubiquitously expressed, with highest levels in testes, placenta, heart, and muscle, and lowest levels in lung. Within the brain, expressed predominantly by neurons in the gray matter of cortex, the granular layer of cerebellum and the Purkinje cells.

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FGFR1OP2 belongs to the SIKE family. The FGFR1OP2 (FGFR1 oncogene partner 2) gene was identified through its involvement in a fusion with the FGFR1 gene. FGFR1OP2 may be involved in the wound healing pathway. It is expressed in bone marrow, spleen and thymus. A chromosomal aberration involving FGFR1OP2 may be a cause of stem cell myeloproliferative disorder (MPD). Insertion ins(12;8)(p11;p11p22) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T cell or B cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein FGFR1OP2-FGFR1 may exhibit constitutive kinase activity and be responsible for the transforming activity.

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Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity).

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May be involved in inflammation and recognition of cytosolic pathogen-associated molecular patterns (PAMPs) not intercepted by membrane-bound receptors. Acts as a negative regulator of the type I interferon signaling pathway by serving as an adapter to promote DTX4-mediated ubiquitination of activated TBK1, and its subsequent degradation. Suppresses NF-kappaB induction by the cytokines TNFA and IL1B, suggesting that it operates at a point of convergence in these two cytokine signaling pathways.

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Anti-ZDHHC16 Rabbit Polyclonal Antibody (Alexa Fluor® 488)

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Heterotrimeric guanine nucleotide binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. GNB1 is a beta subunit. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

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TULP2 is a member of a family of tubby-like (TULP) proteins which share a conserved C terminal region of approximately 200 amino acid residues. It is strongly expressed in testis and is expressed in the retina. It is also expressed in cancer cell lines.

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MSY2 and YB-2 (MSY3,4) belong to the Y-box family of multifunctional proteins that regulate both transcription and translation (1–3). Y-box proteins interact with a wide variety of nucleic acid structures to act as transcription factors and mRNA masking proteins (1). The modular structure of Y-box proteins includes a highly conserved N-terminal cold-shock domain (CSD, equivalent to the bacterial cold-shock proteins) and four basic C-terminal domains containing arginine clusters and aromatic residues (4). MSY2 is expressed in testis and ovary where it may repress translation of parental mRNA (5,6). The gene encoding human MSY2 maps to chromosome 17p11.2-13.1 (5). YB-2 (MSY3,4 in mouse) is also known as DNA binding protein A and is highly expressed in the testis, heart and muscle (7,8). MSY2 and YB-2 bind to the consensus sequence 5'-UCCAUCA-3' contained in the Y-box element (9).

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C6orf50.

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A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. May function to connect SCARB1 with the cellular machineries for intracellular cholesterol transport and/or metabolism. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function.

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This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011].

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Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis. Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases.

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CTAGE6

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Nrarp (NOTCH-regulated ankyrin repeat protein) is a 114 amino acid protein that contains two ANK repeats and is thought to play a role in the formation of somites. The gene encoding Nrarp maps to human chromosome 9, which contains 145 million base pairs and comprises 4% of the human genome, encoding nearly 900 genes. Hereditary hemorrhagic telangiectasia and Familial dysautonomia are both associated with chromosome 9. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in translocations that lead to the aberrant production of a BCR-ABL fusion protein often found in leukemias.

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Substrate recognition component of an SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:17434132). Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463).

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SMAD regulates gene expression by interacting with different classes of transcription factors including DNA-binding multi-zinc finger proteins. SIP1, for SMAD interacting protein 1, is a member of the delta-EF1/Zfh1 family of 2-handed zinc finger/homeodomain proteins. SIP1 contains a SMAD-binding domain, a homeodomain and two clusters of zinc fingers on the N- and C-termini. SIP1, also known as SMADIP1, ZFHX1B and ZEB2 (zinc finger E-box-binding protein 2), can be induced by TGF∫ treatment. SIP1 plays a crucial role in normal embryonic development of neural structures and the neural crest. The human SIP1 gene maps to chromosome 2q22. Mutations in the SIP1 gene cause a form of Hirschsprung disease (HSCR). Patients with SIP1 mutations show mental retardation, delayed motor development, epilepsy, microcephaly, distinct facial features and/or congenital heart disease—all symptoms of HSCR.

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This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants.

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DNA-binding protein that specifically binds heat shock promoter elements (HSE) and activates transcription. In higher eukaryotes, HSF is unable to bind to the HSE unless the cells are heat shocked.

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FERM domains are roughly 150 amino acids in length and are found in a number of cytoskeletal-associated proteins such as Ezrin, Radixin, Moesin and 4.1 (erythrocyte membrane protein band 4.1), where they provide a link between cytoskeletal signals and membrane dynamics. FRMD8 (FERM domain-containing protein 8), also known as FKSG44, is a 464 amino acid protein containing one FERM domain. Existing as two alternatively spliced isoforms, the gene encoding FRMD8 maps to human chromosome 11q13.1. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

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Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered 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. The C9orf41 gene product has been provisionally designated C9orf41 pending further characterisation.

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This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. [provided by RefSeq, Jul 2008].

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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 C6orf64 gene product has been provisionally designated C6orf64 pending further characterization.

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The ABLIM1 protein has an N-terminal domain that contains four double zinc finger motifs, which conform to the LIM motif consensus sequence. ABLIM1 binds to F-Actin through a dematin-like domain and is expressed in retina, brain and muscle tissue. There are four known isoforms of ABLIM1. The gene encoding ABLIM1 maps to a region of chromosome 10 associated with frequent loss of heterozygosity in human tumors, thus identifying ABLIM1 as a candidate tumor suppressor gene. ABLIM2 and ABLIM3 show highest expression in muscle and neuronal tissues, bind to F-Actin, and are localized on stress fibers. They also have been shown to enhance STARS (striated muscle activator of Rho signaling) dependent activation of serum-response factor (SRF), thereby modulating transcription.

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NOC2L is a transcriptional corepressor with inhibitor of histone acetyltransferase (INHAT) activity. NOC2L or NIR (Novel INHAT Repressor) is ubiquitously expressed throughout embryonic development and adulthood. It is a potent transcriptional corepressor that is not blocked by histone deacetylase inhibitors and is capable of silencing both basal and activator-driven transcription. NOC2L directly binds to nucleosomes and core histones and prevents acetylation by histone acetyltransferases, thus acting as a bona fide INHAT.

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May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.

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Comprising nearly 4% of human DNA, chromosome 13 contains around 114 million base pairs and 400 genes. Key tumor suppressor genes on chromosome 13 include the breast cancer susceptibility gene, BRCA2, and the RB1 (retinoblastoma) gene. RB1 encodes a crucial tumor suppressor protein which, when defective, leads to malignant growth in the retina and has been implicated in a variety of other cancers. The gene SLITRK1, which is associated with Tourette syndrome, is on chromosome 13. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival. Trisomy 13, also known as Patau syndrome, is quite deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections. The LOC728591 gene product has been provisionally designated LOC728591 pending further characterization.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1200 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 C6orf204 gene product has been provisionally designated C6orf204 pending further characterisation.

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VGLL1 is a specific coactivator for the mammalian TEFs. The mammalian TEF and the Drosophila scalloped genes belong to a conserved family of transcriptional factors that possesses a TEA/ATTS DNA binding domain.

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Transcriptional activator which triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress. recognises and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3'. Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34C expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation.