"Bioss"

Supplier: Bioss

Associates with IFNAR2 to form the type I interferon receptor. Receptor for interferons alpha and beta. Binding to type I IFNs triggers tyrosine phosphorylation of a number of proteins including JAKs, TYK2, STAT proteins and IFNR alpha- and beta-subunits themselves. Can also transduce IFNB signals without the help of IFNAR2, and not activating the Jak-STAT pathway.

Supplier: Bioss

The Drosophila hairy and Enhancer of split genes encode basic helix-loop-helix (bHLH) transcriptional repressors that function in the Notch signaling pathway and control segmentation and neural development during embryogenesis. The mammalian homologues of Drosophila hairy and Enhancer of split are the HES gene family members, HES1-6, which also encode bHLH transcriptional repressors that regulate myogenesis and neurogenesis. The HES family members form a complex with TLE, the mammalian homologue of Groucho, and this interaction is mediated by the carboxy terminal WRPW motif of the HES proteins. The HES/TLE complex functions by directly binding to DNA, instead of interfering with activator proteins. Most HES family members, including HES1 and HES5, preferentially bind to the N box (CACNAG) as opposed to the E box (CANNTG). HES2 binds to both N and E box sites, while HES6 does not bind DNA. Rather, HES6 inhibits HES1 activity, thereby promoting transcription. HES1 and HES2 are expressed in a variety of adult and embryonic tissues. HES3 is expressed exclusively in cerebellar Purkinje cells, and HES5 is found solely in the nervous system. HES6 is produced in brain as well as in the limb buds of developing embryos.

Supplier: Bioss

The RBM (RNA-binding motif) gene family encodes proteins with an RNA binding motif. RBMY (RBM, Y chromosome) encodes a germ-cell specific nuclear protein involved in spermatogenesis. The RBM gene family, including RBMY1A, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1H and RBMY1J, is comprised of at least 30 genes and pseudogenes, found on both arms of the Y chromosome. RBM X, an ancestral X chromosome homolog of the RBMY gene, encodes hnRNP G, which is widely expressed, whereas the RBMY gene evolved a male-specific function in spermatogenesis. Micro-deletions of the AZFb region of the Y chromosome, which contains a number of RBMY genes, usually result in severe consequences for spermatogenesis. RBM expression is localized to the nuclei of germ cells and RBM interacts with Tra2beta. Tra2beta is a ubiquitous activator of pre-mRNA splicing, but is most highly expressed in testis, suggesting a role for RBM in Tra2beta-dependent splicing in spermatocytes. The human RBMX gene maps to chromosome Xq26 and the RBMY gene family is found on all mammalian Y chomosomes.

Supplier: Bioss

CPXM (carboxypeptidase X, member 1) belongs to the peptidase M14 family. However, no carboxypeptidase activity has yet been detected. It may be involved in cell-cell interactions.Members of the M14 metallocarboxypeptidase protein family serve many diverse functions and are divided into three subfamilies based on structure, function and amino acid sequence similarity. Belonging to the N/E subfamily, CPXM (metallocarboxypeptidase CPX-1) is a 734 amino acid protein that contains a F5/8 type C domain and likely binds one zinc ion per subunit. Most members of the N/E subfamily contain several domains, including an active carboxypeptidase domain and signal peptide, and are thought to function mostly in protein-protein interactions and/or protein-membrane interactions, thereby targeting the protein to specific locations within the secretory pathway. CPXM is a unique member of this subfamily in that it does not appear to exhibit any enzymatic activity due to lack of several active-site residues that are present in the catalytic domain of other members of the N/E subfamily. Studies showing that CPXM expression is regulated during osteoclastogenesis suggest that CPXM may play a role in osteoclast differentiation. There are two isoforms of CPXM which are a result of alternative splicing events.

Supplier: Bioss

COPS7A is a component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2.

Supplier: Bioss

In the process of endocytosis, essential rate-limiting regulator of a fast recycling pathway back to the plasma membrane. During cytokinesis, required for the postfurrowing terminal steps, namely for intercellular bridge stability and abscission, possibly by controlling phosphatidylinositol 4,5-bis phosphate (PIP2) and SEPT2 localization at the intercellular bridge.

Supplier: Bioss

Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. This protein regulates phospholipase A2 activity. It seems to bind from two to four calcium ions with high affinity.

Supplier: Bioss

XAB2 protein (XPA binding protein 2) was first identified through its interaction with XPA, a key factor in nucleotide excision repair pathways. XAB2 therefore appears to be involved in transcription coupled DNA repair and transcription. Immunoprecipitation experiments have also demonstrated that a fraction of XAB2 interacts with the transcription coupled repair specific proteins CSA and CSB as well as with RNA polymerase II. Microinjection experiments with XAB2 resulted in the inhibition of both transcription coupled repair and transcription.

Supplier: Bioss

Enzymes known as phosphatidylserine decarboxylases (PSDs) catalyze the formation of phosphatidylethanolamine from phosphatidylserine via phosphatidylserine decarboxylation. Type I PSDs contain LGST motifs and are found in bacteria and eukaryotic mitochondria, whereas type II PSDs contain GGST motifs and are found in eukaryotic endomembrane systems. PISD (phosphatidylserine decarboxylase), also known as phosphatidylserine decarboxylase proenzyme, PSDC, PSD, PSSC, DJ858B16, dJ858B16.2 or DKFZp566G2246, is a 408 amino acid a type I phosphatidylserine decarboxylase that localizes to the inner mitochondrial membrane. PISD contains a conserved LGST motif which is cleaved to produce two isoforms known as PISD α and PISD β. PISD is capable of forming a heterodimer and is highly expressed in liver and testis. The gene encoding PISD maps to human chromosome 22q12.2.

Supplier: Bioss

C14orf174, is a 674 amino acid protein that contains one SAM (sterile alpha motif) domain. Existing as two alternatively spliced isoforms,C14orf174 is encoded by a gene that maps to human chromosome 14q24.3. Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and when defective leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein Bcl-3 in the (14;19) translocations found in a variety of B cell malignancies.

Supplier: Bioss

Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. ZNF81, also known as HFZ20 or MRX45, is a transcriptional regulator belonging to the Krüppel C2H2-type zinc-finger protein family. It localizes to the nucleus and contains 12 C2H2-type zinc fingers and 1 KRAB domain. Mutations in the gene encoding ZNF81 are implicated in nonsyndromic X-linked mental retardation (XLMR).

Supplier: Bioss

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling.

Supplier: Bioss

Putative nuclease involved in innate immune response by acting as a negative regulator of the cell-intrinsic antiviral response. May play a role in mediating proinflammatory responses to TNF-alpha signaling.Tissue specificity:Expressed in heart, skeletal muscle, spleen, liver, small intestine, placenta, lung and peripheral blood leukocytes. No expression is seen in brain and thymus.Involvement in disease:Defects in SAMHD1 are the cause of Aicardi-Goutieres syndrome type 5 (AGS5) . A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterised by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

Supplier: Bioss

C8orf74 (chromosome 8 open reading frame 74) is a 294 amino acid protein encoded by a gene that maps to human chromosome 8p23.1. Consisting 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 are 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.

Supplier: Bioss

Induces apoptosis and anoikis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possibly through a caspase-mediated pathway. Isoform BimAC and isoform BimABC lack the ability to induce apoptosis.