115183 Results for: "2-Butyne-1,4-diol&pageNo=30"

Supplier: Bioss

CARKD is a 347 amino acid protein that belongs to the YjeF family and exists as three alternatively spliced isoforms. Containing one YjeF C-terminal domain, CARKD is encoded by a gene that maps to human chromosome 13q34. 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.

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C22orf43 (chromosome 22 open reading frame 43), also known as MGC33025 or MGC75009, is a 229 amino acid protein encoded by a gene located on human chromosome 22, which contains over 500 genes and about 49 million bases. As the second smallest human chromosome, chomosome 22 contains a wide variety of genes with numerous functions. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. Translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia Chromosome and the subsequent production of the novel fusion protein, BCR-Abl, a potent cell proliferation activator found in several types of leukemia.

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LSAMP is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system expressed on the surface of somata and proximal dendrites of neurons. It is a member of the immunoglobulin (Ig) superfamily and belongs to the IgLON subfamily of cell adhesion molecules. LSAMP contains three Ig domains and a glycosylphosphatidylinositol anchor. It is a highly conserved protein between rodents and humans (99% sequence identity) and it is involved in the regulation of neurite outgrowth and mediation of proper circuit formation of limbic pathways. This suggests that LSAMP plays an important role in the development and function of the limbic system. In addition, LSAMP may function as a tumor suppressor in renal carcinomas.

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During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentiation (LTP), long-term depression (LTD), certain forms of short-term synaptic plasticity, as well as homeostatic regulation of intrinsic neuronal excitability.

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May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F-dependent transcription.Tissue specificity: Ubiquitously expressed. Expression is down-regulated in a variety of tumor types including breast, colon, prostate and rectal tumors, and is up-regulated in certain hepatic carcinomas.

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This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterised by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene.

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RFPL4B contains 1 B30.2/SPRY domain and 1 RING type zinc finger. The function of RFPL4B remains unknown.

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Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes.

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G protein-coupled receptors (GPRs), also known as seven transmembrane receptors, heptahelical receptors or 7TM receptors, comprise a superfamily of proteins that play a role in many different stimulus-response pathways. G protein coupled receptors translate extracellular signals into intracellular signals (G protein activation) and they respond to a variety of signaling molecules, such as hormones and neurotransmitters. GPR88 (G protein-coupled receptor 88), also known as STRG, is a 384 amino acid multi-pass membrane protein that localizes to the cell membrane and belongs to the G protein coupled receptor family. Expressed exclusively in striatum, GPR88 functions as an orphan receptor that may be involved in signaling pathways throughout the cell. Human GPR88 shares 95% sequence identity with its rat counterpart, suggesting a conserved role between species.

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Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity).

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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 C6orf32 gene product has been provisionally designated C6orf32 pending further characterization.

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Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.

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SMARCD3, is a member of the SMARCD family and contains one SWIB domain. Two isoforms, isoform 1 and isoform 2 exist due to alternative splicing events. Both isoforms are expressed in placenta, salivary gland, kidney, brain, trachea, uterus, prostate, testis, thyroid, spleen and heart, while isoform 1 is also expressed in adipose tissue and skeletal muscle. Localizing to the nucleus, SMARCD3 is a component of the ATP-dependent chromatin remodeling complex SNF/SWI and is believed to play a role in nucleosome remodeling. SMARCD3 also plays an important role in the regulation of muscle development. In mice, the silencing of the gene en-coding SMARCD3 leads to defects in heart morphogenesis. In addition, both isoforms of SMARCD3 directly interact with and function as coactivators for several transcription factors.

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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 FAM78B gene product has been provisionally designated FAM78B pending further characterization.

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Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes (By similarity).

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Inhibitor subunit of the major nuclear protein phosphatase 1 (PP1). It has RNA binding activity but does not cleave RNA and may target PP1 to RNA associated substrates. May also be involved in pre mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation.

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Apolipoprotein C-II (apoCII) is in found in chylomicrons (large lipoprotein particles absorbed from the gastrointestinal tract) and VLDL (large lipoproteins that are broken down to eventually form LDL). ApoCII activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells.

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This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010].

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Glutamate receptors mediate most excitatory neurotransmission in the brain and play an important role in neural plasticity, neural development and neurodegeneration. Ionotropic glutamate receptors are categorized into NMDA receptors and kainate/AMPA receptors, both of which contain glutamate-gated, cation-specific ion channels. Kainate/AMPA receptors are co-localized with NMDA receptors in many synapses and consist of the structurally related subunits GluR-1 to -7, KA1 and KA2. KA1 (also designated EEA1) and KA2 (also designated EEA2) form heteromeric receptors with GluR subunits when coexpressed, forming ion channels with various properties. The kainate/AMPA receptors are primarily responsible for the fast excitatory neuro-transmission by glutamate.

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Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.

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In eukaryotes, it is essential to have the ability to detect and degrade transcripts that lack full coding potential. Nonsense-mediated RNA decay (NMD) protects the organism by avoiding the translation of truncated peptides with dominant negative or deleterious gain-of-function potential. Rent1, a mammalian ortholog of Upflp, is essential for embryonic viability (1–3). Rent1 (also designated regulator of nonsense transcripts and HUpf1) contains an N-terminal zinc finger-like domain, NTPase domains and a region comprised of domains that define Rent1 as a superfamily group I helicase.

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Component of the cytosolic iron-sulfur (Fe/S) protein assembly machinery. Required for maturation of extramitochondrial Fe/S proteins. May bind and transfer a labile 4Fe-4S cluster to target apoproteins.

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Myo-inositol is involved in many important aspects of cellular regulation including membrane structure, signal transduction and osmoregulation. It is taken up into cells by the sodium/myo-inositol cotransporter (SMIT). SMIT activity maintains intracellular concentrations of myo-inositol; it is upregulated in response to hypertonic stress. The human SMIT protein is encoded by the SLC5A3 gene, which maps to chromosome 21q22.12. It is expressed in many human tissues, such as brain, kidney and placenta. Specifically, SMIT is abundantly expressed throughout the whole brain and spinal cord in fetal rat, but is downregulated in adult rat brain with the exception of the choroid plexus, where SMIT expression remains high. In kidney, SMIT localizes to the baso-lateral membranes of the thick ascending limb of Henle (TAL) and the inner medullary collecting duct (IMCD). Impaired SMIT activity is implicated in the pathogenesis of diabetes and Down syndrome.

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GGNBP1 is a 109 amino acid protein that is thought to be involved in spermatogenesis and interacts with gametogenetin. GGNBP1 localizes to cytoplasm, membrane and Golgi apparatus, and exits as two isoforms which are produced by alternative splicing events. The gene encoding GGNBP1 maps to human chromosome 6, which contains 170 million base pairs and comprises nearly 6% of the human genome. 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. Additionally, Porphyria cutanea tarda, Parkinson's disease, Stickler syndrome and a susceptibility to bipolar disorder are all associated with genes that map to chromosome 6.

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Dyrk (for dual specificity tyrosine phosphorylation regulated kinase) is the homolog of the Drosophila mnb (minibrain) gene which is required for neurogenesis. Dyrk is a dual-specificity tyrosine kinase and serine/threonine kinase, which is itself regulated by tyrosine phosphorylation. Several mammalian Dyrk related proteins have been identified and are thought to compose a family of dual specificity protein kinases. Dyrk family members, including Dyrk1A (dual specificity tyrosine-phosphorylation-regulated kinase 1A), Dyrk1B, Dyrk1C, Dyrk2, Dyrk3, Dyrk4A and Dyrk4B, are thought to be involved in diverse cellular functions. Localized to the nucleus and highly expressed in testis, muscle and the developing nervous system, Dyrk1A, also known as MNB or MNBH, functions to phosphorylate serine, threonine and tyrosine residues on various substrates involved in signaling pathways that regulate cell proliferation. Dyrk1A is a candidate gene for learning defects that are involved in Downs syndrome (DS), suggesting a possible role for Dyrk1A in the development of DS. Four isoforms of Dyrk1A exist due to alternative splicing events.

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ARMC3 contains 12 ARM repeats. ARM (Armadillo/beta-catenin-like) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis. The specific function of ARMC3 is not yet known.

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ANXA2R (annexin-2 receptor), also known as AX2R or C5orf39, is a 193 amino acid protein that is widely expressed and may act as an annexin II receptor on marrow stromal cells to induce osteoclast formation. In addition, ANXA2R is highly expressed in lymphocytes and is also found in resting CD4+ and CD8+ T cells. The gene encoding ANXA2R maps to human chromosome 5, which contains 181 million base pairs and comprises nearly 6% of the human genome. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5-associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.

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The Testican family, also designated the BM-40/SPARC/osteonectin family, is composed of highly conserved, extracellular, calcium-binding, sulfate proteoglycans. Expression of Testicans is detected in a variety of tissues, but is most abundant in brain. Family members include Testican-1, Testican-2, Testican-3 and an amino-terminal splice variant of Testican-3, designated N-Tes. Most Testicans inhibit MT-MMPs, thereby inhibiting the activity of pro-MMP-2. Testican-2 is expressed in the central nervous system (CNS), with widespread expression in the olfactory bulb, cerebral cortex, thalamus, hippocampus, cerebellum and medulla, and is also found in lung and testis. Testican-2 is unique in that it actually abolishes the inhibition of MT-MMPs by other testican family members and specifically inactivates N-Tes by binding to its COOH-terminal extracellular calcium-binding domain. Testican-2 halts neurite growth from cerebellar neurons and may be involved in regu-lating the development of the CNS.

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Potential suppressor of squamous cell carcinomas.

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HCE.