127976 Results for: "Bioss"

Supplier: Bioss

MRG15 ia a component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis and DNA repair.

Supplier: Bioss

The correlation of anti-sperm with cases of unexplained infertility implicates a role for these in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterisation of relevant sperm antigens. The protein expressed by this gene is recognised by anti-sperm from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene.

Supplier: Bioss

The GLP2 receptor (GLP2R) is a G protein-coupled receptor superfamily member closely related to the glucagon receptor ans GLP1 receptor. Glucagon-like peptide-2 (GLP2) is a 33-amino acid proglucagon-derived peptide produced by intestinal enteroendocrine cells. Like glucagon-like peptide-1 (GLP1) and glucagon itself, it is derived from the proglucagon peptide encoded by the GCG gene. GLP2 stimulates intestinal growth and upregulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. Moreover, GLP2 prevents intestinal hypoplasia resulting from total parenteral nutrition. GLP2R, a G protein-coupled receptor superfamily member is expressed in the gut and closely related to the glucagon receptor (GCGR) and the receptor for GLP1 (GLP1R).

Supplier: Bioss

IGIP.

Supplier: Bioss

IGKV A18.

Supplier: Bioss

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012].

Supplier: Bioss

This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease.

Supplier: Bioss

c-Kit is a transmembrane tyrosine kinase encoded by the cKit proto oncogene. c-Kit acts to regulate a variety of biological responses including cell proliferation, apoptosis, chemotaxis and adhesion. Ligand binding to the extracellular domain leads to autophosphorylation on several tyrosine residues within the cytoplasmic domain, and activation. Mutations in c-Kit have been found to be important for tumor growth and progression in a variety of cancers including mast cell diseases, gastrointestinal stromal tumor, acute myeloid leukemia, Ewing sarcoma and lung cancer. Phosphorylation at tyrosine 721 of c-Kit allows binding and activation of PI3 kinase.

Supplier: Bioss

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. [provided by RefSeq, Jul 2008].

Supplier: Bioss

[FUNCTION] Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon.

Supplier: Bioss

The DCDC2 gene encodes the DCDC2 protein (Doublecortin-containing protein 2, RU2, RU2S) which contains two Doublecortin peptide domains similar to those in the Doublecortin gene. DCDC2 is transcribed as a “normal” gene, which results in a sense transcript (RU2S), but when it is transcribed in the opposite direction, a shorter antisense transcript (RU2AS), which is found in tumors, results. The DCDC2 protein demonstrates ubiquitous expression, whereas RU2AS expression is restricted to normal kidney, bladder, liver and testis, and to tumors of various histologic origins. The deduced DCDC2 protein contains 476 amino acids, while the RU2AS protein contains 84 residues. There is a significant association between dyslexia and several SNPs within the DCDC2 gene.

Supplier: Bioss

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Zinc finger FYVE domain-containing protein 27 (ZFYVE27), also known as SPG33, is a 411 amino acid member of the FYVE-finger family of proteins. The FYVE domain is a cysteine-rich domain of about 70 amino acids that plays a role in the endosomal localization of the FYVE-finger proteins, and a majority of these proteins serve as regulators of endocytic membrane trafficking. ZFYVE27, a multi-pass membrane protein, is an endosomal protein that binds to Spastin, a protein that is primarily involved in microtubule dynamics and severing, vesicular trafficking and endosomal trafficking. Mutations in the gene encoding ZFTVE27 affect neuronal intracellular trafficking in the corticospinal tract and are thought to lead to hereditary spastic paraplegia (HSP), a neurodegenerative disorder, characterized by progressive paralysis of the legs, which is caused by impaired axonal transport. Five isoforms of ZFYVE27 exist as a result of alternative splicing events.

Supplier: Bioss

[FUNCTION] Seems to enhance replication of some viruses, including yellow fever virus, in response to type I interferon.

Supplier: Bioss

Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development.

Supplier: Bioss

Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development.

Supplier: Bioss

EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6 (By similarity).

Supplier: Bioss

Encapsidates the negative strand viral RNA, protecting it from nucleases. The encapsidated genomic RNA is termed the ribonucleoprotein (RNP) and serves as template for transcription and replication. The RNP needs to be localized in the nucleus to start an infectious cycle, but is too large to diffuse through the nuclear pore complex. NP comprises at least 2 nuclear localization signals and is responsible of the active RNP import into the nucleus through the cellular importin alpha/beta pathway. Later in the infection, nucleus export of RNP are mediated through viral proteins NEP interacting with M1 which binds nucleoproteins. It is possible that the nucleoprotein binds directly exportin-1 (XPO1) and plays an active role in RNP nuclear export. M1 interaction with RNP seems to hide nucleoprotein's nuclear localization signals. Soon after a virion infects a new cell, M1 dissociates from the RNP under acidification of the virion driven by M2 protein. Dissociation of M1 from RNP unmask nucleoprotein's nuclear localization signals, targeting the RNP to the nucleus.

Supplier: Bioss

FAM168A is a 244 amino acid protein that exists as three alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 11, which 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. The blood disorders Sickle cell anemia and ∫ thalassemia are caused by HBB gene mutations. 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.

Supplier: Bioss

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 C6orf168 gene product has been provisionally designated C6orf168 pending further characterisation.

Supplier: Bioss

The kinesin superfamily of proteins (KIFs) consists of a class of microtubule-dependent motors that play a major role in many cellular and developmental functions, including organelle transport, mitosis, meiosis, and possibly long-range signaling in neurons. The kinesin proteins are involved in organelle transport and are primarily associated with anterograde transport of vesicles and organelles in neurons, epithelial cells, and melanosomes with bidirectional transport of mitochondria. They also mediate transport between the endoplasmic reticulum (ER) and the Golgi complex. In neurons, kinesin motors conduct vesicular transport, such as of synaptic vesicle components to axons and of neurotransmitter receptors to dendrites. KIF17 belongs to the functionally diverse subgroup of the kinesin superfamily characterized by a N-terminal motor domain (N-IV class), that includes the KIF3 motor protein. KIF17 is specifically expressed in the brain, present in abundance in the gray matter, particularly in the hippocampus and cerebral cortex, but not in the white matter such as the optic nerve.

Supplier: Bioss

This protein belongs to a family of Zn-containing metallocarboxypeptidases specific to C-terminal lysine and arginine residues. It circulates in plasma as a zymogen with molecular weight of 55 kDa (401 amino acid residues; pI 5.0). Being activated by thrombin-thrombomodulin complex during blood coagulation, it exerts carboxypeptidase activity. Activated carboxypeptidase B2 removes C-terminal lysine residues from fibrin, which is necessary for plasminogen binding to fibrin. This prevents plasminogen from activation into plasmin and retards the lysis of a fibrin clot. The concentration in plasma of healthy people is 5-10 ug/ml. High plasma levels were found in patients with stable angina pectoris and angiographically verified coronary artery disease. Elevated concentration in blood is considered as a risk factor for venous thrombosis. A deficiency might contribute to the severity of bleeding disorders in hemophilias A and B, and decreased levels are found in chronic liver disease.

Supplier: Bioss

Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 4S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 6S ribosomal subunit to form the 8S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B.

Supplier: Bioss

Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the immune response via both innate and T-cell mediated pathways.

Supplier: Bioss

Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3.

Supplier: Bioss

Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3.

Supplier: Bioss

KAT3B/p300 is a transcriptional adapter protein (300 kDa)which is characterized by three cysteine and histidine rich regions and its C-terminus specifically binds the adenovirus E1A protein. KAT3B and associated proteins are components of TATA-binding protein (TBP)complexes. Protein kinase A mediated CREB phosphorylation results in the binding of CREB to a 265 kDa nuclear protein designated KAT3A/CBP(for CREB-binding protein). KAT3B and KAT3A are homologous to each other.

Supplier: Bioss

Unknown. Candidate gene encoding tumor antigens.Members of the BAGE gene family encode antigens that are recognised by cytotoxic T lymphocytes and are also known as CT (cancer/testis) antigens. Generated by juxtacentromeric shuffling of the MLL3 gene, the ancestral BAGE gene was expanded by acrocentric exchanges and/or juxtacentromeric movements.Generally, BAGE proteins are silent in all normal tissues with the exception of testis. BAGE2 and BAGE 3 (B melanoma antigen 2 and 3, respectively), also known as Cancer/testis antigen 2.2 and 2.3 (respectively), are 109 amino acid secreted proteins that are expressed in 22% of melanomas, lung and bladder carcinomas, and are also expressed in normal testis tissue. Like the genes encoding MAGE proteins, BAGE genes are most likely silenced by DNA methylation and/or chromatin compaction in normal tissues other than testis.

Supplier: Bioss

The tetraspanin family is a group of cell surface proteins that regulate cell development, activation, growth and motility. Each member contains four hydrophobic domains and participates in the mediation of signal transduction. NET-5, also known as TSPAN9 (tetraspanin 9), is a 239 amino acid multi-pass membrane protein that belongs to the tetraspanin (TM4SF) family. NET-5 forms a complex with GPVI in the tetraspanin microdomains on the platelet surface, and is encoded by a gene that maps to human chromosome 12p13.33. Chromosome 12 encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.