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DIAGNOSTIC+BIOSYSTEMS+INC
Catalog Number:
(10352-562)
Supplier:
Bioss
Description:
Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. [provided by RefSeq, Jul 2008].
Catalog Number:
(10483-070)
Supplier:
Bioss
Description:
CBLL1, also known as HAKAI (meaning ‘destruction’ in Japanese), or RNF188 (RING finger protein 188), is a 491 amino acid protein that contains one C2H2-type zinc finger and one RING-type zinc finger. CBLL1 is believed to function as an E3 ubiquitin-protein ligase that accepts a ubiquitin residue from an E2 ubiquitin-conjugating enzyme and immediately transfers that residue to a protein that is targeted for degradation. More specifically, upon activation of c-Src, CBLL1 interacts with and ubiquitinates tyrosine-phosphorylated E-cadherin, thereby targeting the E-cadherin complex for endocytosis and disrupting epithelial cell-cell contacts. Via its role as an E-cadherin regulator, CBLL1 participates in cell adhesion and may also be involved in the regulation of epithelial-mesenchymal transitions.
Catalog Number:
(10432-540)
Supplier:
Bioss
Description:
Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes such as collagenase or insulin. Recruited by IPF1/PDX-1 to the insulin promoter, leading to activate transcription. Has also methyltransferase activity toward non-histone proteins such as p53/TP53, TAF10, and possibly TAF7 by recognizing and binding the [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys-189' of TAF10, leading to increase the affinity of TAF10 for RNA polymerase II. Monomethylates 'Lys-372' of p53/TP53, stabilizing p53/TP53 and increasing p53/TP53-mediated transcriptional activation. Also able to demethylated 'Lys-372' of p53/TP53 in vitro.
Catalog Number:
(10667-964)
Supplier:
Bioss
Description:
The U-box domain is a modified RING finger motif that has been implicated in the ubiquitin/proteasome system. The ubiquitin-conjugating enzyme 7-interacting protein 5 (UIP5), also designated U-box domain-containing protein 5 or RING finger protein 37, contains 1 RING-type zinc finger and 1 U-box domain. UIP5 has been shown to interact with UBCH7, an enzyme that mediates selective degradation of abnormal proteins. The gene encoding UIP5 maps to chromosome 20, which houses over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome. Additionally, chromosome 20 contains a region with numerous genes which are thought important for seminal production and may be potential targets for male contraception.
Catalog Number:
(10457-248)
Supplier:
Bioss
Description:
This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010].
Catalog Number:
(10431-220)
Supplier:
Bioss
Description:
RbAp48 (Retinoblastoma-binding protein p48 or Rb-associated protein p48)is a WD repeat protein that is a core histone binding subunit common to several complexes involved in chromatin assembly, chromatin remodeling, and histone deacetylation. These complexes include Chromatin Assembly Factor 1 (CAF1), which is required for chromatin assembly following DNA replication and repair, the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and subsequent transcriptional repression, the nucleosome remodeling and histone deacetylation complex NuRD, the nucleosome remodeling factor (NURF) complex, and the PRC2 complex, which promotes repression of homeotic genes during development. RpAp48 also interacts with the retinoblastoma protein, and with SPEN/MINT and BRCA1. It is also a component of the DREAM complex, which represses cell cycle-dependent genes in quiescent cells.
Catalog Number:
(10399-636)
Supplier:
Bioss
Description:
SETBP1 (SET binding protein 1), also known as SEB, is a 1,542 amino acid nuclear protein that contains three AT hook DNA-binding domains, one SKI homology region and a C-terminal SET-binding domain, which is followed by three PPLPPPPP repeats. SETBP1 may be involved in SET-related tumorigenesis and leukemogenesis by regulating the transforming activity of SKI in the nucleus or suppressing SET function. As a widely expressed protein, SETBP1 is encoded by a gene that maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.
Catalog Number:
(10481-278)
Supplier:
Bioss
Description:
GLT8D2 (glycosyltransferase 8 domain-containing protein 2), also known as GALA4A, is a 349 amino acid single-pass type II membrane protein. A member of the glycosyltransferase 8 family, GLT8D2 is encoded by a gene that maps to human chromosome 12q23.3. Encoding over 1,100 genes within 132 million base pairs, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12, including hypochondrogenesis, achondrogenesis, Noonan syndrome, Kniest dysplasia and trisomy 12p. Chromosome 12 is also home to a homeobox gene cluster, which encodes crucial transcription factors for morphogenesis, as well as the natural killer complex gene cluster, which encodes C-type lectin proteins that mediate the NK cell response to MHC I interaction.
Catalog Number:
(10662-718)
Supplier:
Bioss
Description:
The homeobox DNA-binding domain is a 60 amino acid motif that is conserved among many species and functions to bind DNA via a helix-turn-helix structure, thereby playing a role in transcriptional regulation and the control of gene expression. TSHZ3 (teashirt zinc finger homeobox 3), also known as KIAA1474, TSH3 or ZNF537, is a 1,081 amino acid protein that contains one homeobox DNA-binding domain and five C2H2-type zinc fingers. Localized to the nucleus, TSHZ3 functions as a transcriptional regulator that is involved in developmental processes throughout the body. The gene encoding TSHZ3 maps to human chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognized for having the greatest gene density of the human chromosomes.
Catalog Number:
(10663-614)
Supplier:
Bioss
Description:
Importin 7 is a 1,038 amino acid protein encoded by the human gene IPO7. Importin-7 belongs to the importin b family and contains one importin N-terminal domain. Importin-7 functions in nuclear protein import, either by acting as an autonomous nuclear transport receptor or as an adapter-like protein in association with the Importin b subunit KPNB1. Acting autonomously, Importin-7 is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to Importin-7, the Importin-7/substrate complex dissociates and Importin-7 is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. Importin-7 is a nuclear protein that is expressed in most tissues.
Catalog Number:
(10664-898)
Supplier:
Bioss
Description:
Protein transport across the nucleus is a selective, multi-step process involving several cytoplasmic factors that mediate protein passage through the nuclear pore complex (NPC). Cytoplasmic proteins that contain nuclear localization signals (NLSs) must be recognized as import substrates, dock at the nuclear pore complex and translocate across the nuclear envelope in an ATP-dependent fashion. Karyopherin alpha 1 and karyopherin alpha 6 are widely expressed nuclear import proteins that act as adaptors for karyopherin ∫1, specifically binding to and guiding NLS-containing proteins to the NPC. Both karyopherin alpha 1 and karyopherin alpha 6 contain one IBB domain and ten ARM repeats through which they convey their protein binding and localization function. Together, karyopherin å1 and karyopherin å6 are responsible for ensuring the nuclear import of NLS-containing substrates
Catalog Number:
(10480-916)
Supplier:
Bioss
Description:
G protein-coupled receptors (GPCRs) represent a large superfamily of cell-surface receptors that are involved in a multitude of physiological processes such as perception of sensory information, modulation of synaptic transmission, hormone release/actions, regulation of cell contraction/migration and cell growth/differentiation. GPCRs interact with G proteins (heterotrimeric GTPases) to synthesize intracellular second messengers, such as diacylglycerol, cyclic AMP, inositol phosphates and calcium ions. Their diverse biological functions range from vision and olfaction to neuronal and endocrine signaling and are involved in many pathological conditions. GRIN2 (G protein-regulated inducer of neurite outgrowth 2), also known as GPRIN2, is a 458 amino acid protein that is expressed in cerebellum and is thought to play a role in neurite outgrowth. GRIN2 interacts with activated G?oand G?, and is encoded by a gene that maps to human chromosome 10q11.22.
Catalog Number:
(10483-878)
Supplier:
Bioss
Description:
GLB1L3 is a 653 amino acid protein belonging to the glycosyl hydrolase 35 family. GLB1L3 exists as three alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 11q25. 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. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. 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.
Catalog Number:
(10426-298)
Supplier:
Bioss
Description:
Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity. Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation. Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels. Promotes dermal fibroblast proliferation and wound repair. Regulates KDELR1-mediated retention of HSP90B1/gp96 in the endoplasmic reticulum. Plays a role in angiogenesis by inducing endothelial cell migration at low concentrations and endothelian cell apoptosis at high concentrations. Induces maturation of dendritic cells and monocyte cell adhesion. Modulates endothelial cell responses by degrading HIF-1A through interaction with PSMA7.
Catalog Number:
(10666-228)
Supplier:
Bioss
Description:
The exosome is a multi-protein complex composed of several highly conserved subunits, some of which are 3’ to 5’ exoribonucleases. The complex is involved in a variety of cellular processes and is responsible for degrading unstable mRNAs that contain AU-rich elements (AREs) in their untranslated 3’ regions. DIS3, also known as RRP44, is a 958 amino acid protein that localizes to both the cytoplasm and the nucleus and contains one PINc domain. Widely expressed with highest expression in testis, DIS3 functions as a component of the exosome exoribonuclease complex and is required for processing of 7S pre-RNA into a mature nuclear complex and, ultimately, for proper mitotic progression. Abnormal expression levels of DIS3 may be associated with colon cancer, suggesting a role for DIS3 in tumorigenesis. Multiple isoforms of DIS3 exist due to alternative splicing events.
Catalog Number:
(10669-816)
Supplier:
Bioss
Description:
E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with FAM105B/otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types.
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