44457 Results for: "Bioss"

Supplier: Bioss

Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The C8orf70 gene product has been provisionally designated C8orf70 pending further characterization.

Supplier: Bioss

Important role in the capacity of milk to transport calcium phosphate.Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1.

Supplier: Bioss

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.

Supplier: Bioss

The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK-regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response.

Supplier: Bioss

E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone.

Supplier: Bioss

C9orf114 is a 376 amino acid protein encoded by a gene that maps to human chromosome 9q34.11. 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 characterized 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

Significantly diminishes the chaperonin TCP1 complex ATPase activity, thus negatively impacts protein folding, including that of actin or tubulin.

Supplier: Bioss

Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression.

Supplier: Bioss

DENND4C is a 1,673 amino acid multi-pass membrane protein. DENND4C contains a dDENN domain, DENN domain, uDENN domain and a PPR (pentatricopeptide) repeat. As a result of alternative splicing, six DENND4C isoforms exist. The gene encoding DENND4C maps to human chromosome 9, which houses over 900 genes and comprises nearly 4% of the human genome. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, and Familial dysautonomia, are both associated with chromosome 9. Notably, chromosome 9 encompasses the largest interferon family gene cluster.

Supplier: Bioss

This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-nagative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa.

Supplier: Bioss

Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.

Supplier: Bioss

FAM55D

Supplier: Bioss

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. RNF113B (ring finger protein 113B), also referred to as zinc finger protein 183-like 1, RNF161, MGC26599, bA10G5.1 or ZNF183L1, is a 322 amino acid protein containing one C3H1-type zinc finger and one RING-type zinc finger. The gene encoding RNF113B maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. Trisomy 13, also known as Patau syndrome, is deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections.

Supplier: Bioss

General factor that plays a major role in the activation of eukaryotic genes transcribed by RNA polymerase II.

Supplier: Bioss

In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system.

Supplier: Bioss

The FAM20 proteins are a family of secreted proteins that regulate differentiation and function of hematopoietic and other tissues. FAM20C, also known as DMP4 (Dentin matrix protein 4), is a 570 amino acid secreted protein that binds calcium and may play a role in dentin mineralization. Defects in the gene encoding FAM20C are the cause of Raine syndrome (Lethal osteosclerotic bone dysplasia), an autosomal recessive osteosclerotic bone dysplasia, that is characterized by generalized osteosclerosis, microencephaly and craniofacial dysplasia. Usually, affected individuals survive only days or weeks. The mutations of the FAM20C gene include four nonsynomous base changes and four splice-site changes that have a detrimental affect on splicing.

Supplier: Bioss

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

Supplier: Bioss

The transcriptional enhancer factor-1 (TEF-1) family of transcription factors regulate tissue-specific gene expression in muscle and placenta. The mechanism whereby TEF-1 confers tissue specificity depends largely on the interaction of TEF-1 with tissue-specific cofactors. Transcription cofactor Vgl-4 (vestigial-like protein 4) is a 290 amino acid nuclear protein that interacts with TEF-1 and MEF-2. Vgl-4 is the only member of the vestigial-like family that is expressed in heart. Overexpression of Vgl-4 in cardiac myocytes interferes with basal expression and ?-adrenergic receptor-dependent activation of a TEF-1 dependent skeletal ?actin promoter. This suggests that Vgl-4 counteracts ?-adrenergic activation of gene expression in cardiomyocytes. There are two isoforms of Vgl-4 that are produced as a result of alternative splicing events.

Supplier: Bioss

Tau proteins are important Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by tau localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization. Tau proteins subcellular located in the axons of neurons, in the cytoso l and in association with plasma membrane components. It expressed in neurons. PNS-tau is expressed in the peripheral nervous system while the others are expressed in the central nervous system.

Supplier: Bioss

The insulin-like growth factors possess growth-promoting activity. In vitro, they are potent mitogens for cultured cells. IGF-II is influenced by placental lactogen and may play a role in fetal development. Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.

Supplier: Bioss

Guanine nucleotide exchange factor (GEF) for RAB35. May function as a clathrin-associated sorting protein for RAB35, whereby during clathrin-mediated endocytosis, binds the AP-2 complex and inactived RAB35, then activates RAB35 for its subsequent function at endosomes.Tissue specificity:Highly expressed in dendritic and natural killer cells and at lower levels in other myeloid lineage cells and in pituitary. Significantly up-regulated in effector memory T cells as compared with naive T cells.

Supplier: Bioss

May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells.

Supplier: Bioss

Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades through those receptor tyrosine kinase to regulate neuronal proliferation, differentiation and survival. Inhibits metalloproteinase dependent proteolysis of platelet glycoprotein VI (PubMed:20164177).

Supplier: Bioss

The Zyxin family of proteins contains five members: Ajuba, Limd1, LPP, TRIP6 and Zyxin. Limd1 (LIM domain-containing protein 1) is a ubiquitously expressed tumor suppressor containing 3 LIM zinc-binding domains. LIM domains consist of a cysteine-rich consensus sequence containing two distinct zinc-binding subdomains, which mediate protein-protein interactions. Limd1 interacts with the proteins SQSTM1, Rb, p62 and TRAF6. Limd1 was first identified when the deletion of its gene was noted in some cervical cancers. Limd1 blocks in vitro and in vivo tumor growth and is down-regulated in lung cancer. Limd1 may regulate osteoclast development under stressful conditions via its interactions with TRAF6 and p62.

Supplier: Bioss

The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion, and drug extrusion and delivery. CCDC83 (coiled-coil domain-containing protein 83), also known as HSD9, is 413 amino acid protein that exists as three alternatively spliced isoforms. The gene encoding CCDC83 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.

Supplier: Bioss

Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells.

Supplier: Bioss

Possible involvement in extravasation of leukocytes.

Supplier: Bioss

GDE3, also known as glycerophosphodiester phosphodiesterase 3, glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2) or osteoblast differentiation promoting factor (OBDPF), is a 539 amino acid protein belonging to the glycerophosphoryl diester phosphodiesterase family. Possessing glycerophosphoinositol inositolphosphodiesterase activity, GDE3 hydrolyzes glycerophosphoinositol to form inositol 1-phosphate and glycerol, and is suggested to play a role in Actin cytoskeleton remodeling and osteoblast differentiation and growth. A multi-pass membrane protein, GDE3 localizes to cell membrane and cytoplasm, and colocalizes with actin in the cytoskeleton. GDE3 contains one GDPD domain, binds calcium as a cofactor and is encoded by a gene mapping to human chromosome Xq13.1.

Supplier: Bioss

Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2.

Supplier: Bioss

Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf194 gene product has been provisionally designated C20orf194 pending further characterization.