127976 Results for: "Bioss"

Supplier: Bioss

The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localisation of the catalytic enzyme to a particular subcellular compartment.

Supplier: Bioss

E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation.

Supplier: Bioss

NHLRC3 contains 4 NHL repeats. The function of the NHLRC3 protein remains unknown. 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.

Supplier: Bioss

NHLRC3 contains 4 NHL repeats. The function of the NHLRC3 protein remains unknown. 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.

Supplier: Bioss

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.

Supplier: Bioss

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.

Supplier: Bioss

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localises to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI).

Supplier: Bioss

Gamma Catenin is a common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of gamma Catenin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. It is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat.

Supplier: Bioss

RNF169 contains 1 RING type zinc finger. The exact functions of RNF169 remain unknown.

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

RNF169 contains 1 RING type zinc finger. The exact functions of RNF169 remain unknown.

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

RNF169 contains 1 RING type zinc finger. The exact functions of RNF169 remain unknown.

Supplier: Bioss

RNF169 contains 1 RING type zinc finger. The exact functions of RNF169 remain unknown.

Supplier: Bioss

RINT1 is involved in the regulation of membrane traffic between the golgi and the endoplasmic reticulum. It may play a role in cell cycle checkpoint control and is essential for telomere length control.

Supplier: Bioss

RINT1 is involved in the regulation of membrane traffic between the golgi and the endoplasmic reticulum. It may play a role in cell cycle checkpoint control and is essential for telomere length control.

Supplier: Bioss

The synaptogyrin family of proteins are integral membrane proteins containing four transmembrane regions. Synaptogyrins are tyrosine-phosphorylated proteins with two neuronal (Synaptogyrin-1 and -3) and one ubiquitous (Synaptogyrin-2) isoform. Synaptophysin and synaptogyrin represent the major constituents of synaptic vesicles. Synaptogyrin-1 is associated with presynaptic vesicles in neuronal cells. Synaptogyrin-2, also known as cellugyrin, has a tyrosine phosphorylated C-terminal cytoplasmic tail and is involved in the regulation of membrane traffic in non-neuronal cells. Synaptogyrin-3 is expressed mainly in brain and placenta.

Supplier: Bioss

DEAD box proteins, characterised by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Supplier: Bioss

TMEM147, also known as ; NIFIE 14, is a 224 amino acid protein encoded by a gene mapping to human chromosome 19. Consisting of around 63 million bases with over 1,400 genes, chromosome 19 makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.

Supplier: Bioss

TMEM147, also known as ; NIFIE 14, is a 224 amino acid protein encoded by a gene mapping to human chromosome 19. Consisting of around 63 million bases with over 1,400 genes, chromosome 19 makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.

Supplier: Bioss

TMEM147, also known as ; NIFIE 14, is a 224 amino acid protein encoded by a gene mapping to human chromosome 19. Consisting of around 63 million bases with over 1,400 genes, chromosome 19 makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.

Supplier: Bioss

TMEM147, also known as ; NIFIE 14, is a 224 amino acid protein encoded by a gene mapping to human chromosome 19. Consisting of around 63 million bases with over 1,400 genes, chromosome 19 makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.

Supplier: Bioss

Terminally differentiating mammalian epidermal cells acquire an insoluble, 10 to 20 nm thick protein deposit on the intracellular surface of the plasma membrane known as the cross-linked cell envelope (CE). The CE is a component of the epidermis that is generated through formation of disulfide bonds and g-glutamyl-lysine isodipeptide bonds, which are formed by the action of transglutaminases (TGases). TGases are intercellularly localizing, Ca2+-dependent enzymes that catalyze the formation of isopeptide bonds by transferring an amine on to glutaminyl residues, thereby cross-linking glutamine residues and lysine residues in substrate proteins. TGases influence numerous biological processes, including blood coagulation, epidermal differentiation, seminal fluid coagulation, fertilization, cell differentiation and apoptosis. Human keratinocyte transglutaminase (TGase1) is a membrane associated, 817 amino acid protein. Human tissue transglutaminase (TGase2) is an endothelial cell specific, 687 amino acid protein.

Supplier: Bioss

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.

Supplier: Bioss

C17orf59 is a 357 amino acid protein that is encoded by a gene mapping to human chromosome 17. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1200 genes. Two key tumour suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. tumour suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, specifically it is recognised as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterised by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.

Supplier: Bioss

Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).

Supplier: Bioss

Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription. Contributes to the mRNA splicing efficiency and splice site selection. Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination. Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress. In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage. Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription. Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated Signalling pathways. Inhibits retinoic acid-induced apoptosis.

Supplier: Bioss

TNIK is a MSN protein kinase that interacts with both TNF receptor-associated factor 2 (TRAF2) and the adapter protein NCK. The protein has been shown to activate the c-Jun N-terminal kinase pathway when over expressed in Phoenix-A cells. TNIK has been shown to phosphorylate gelsolin, the principal intracellular and extracellular actin-severing protein, in vitro. This and evidence from mutational studies suggest that TNIK functions in the regulation of the cytoskeleton. Northern analysis indicates TNIK expression in human heart, skeletal muscle, and brain, with lower levels of expression in kidney, liver, lung, and pancreas. ESTs have been isolated from human tissue libraries, including normal amnion, gallbladder and skin.

Supplier: Bioss

Acetyltransferases and deacetylases are protein groups most often associated with oncogenesis and cell cycle regulation. NAT-8B (N-acetyltransferase 8B), also known as CML2 (camello-like protein 2), is a 227 amino acid single-pass membrane protein that is implicated in gastrulation regulation. A member of the camello family, NAT-8B contains one N-acetyltransferase domain and is encoded by a gene that maps to human chromosome 2p13.2. The NAT-8B gene is susceptible to a nonsense mutation at Serine 16, which leads to a stop codon and subsequently, a non-functional protein that is truncated in length. Similarly, a nonsense mutation at Glutamine 168 is thought to lead to a non-functional protein, as it causes the N-acetyltransferase to become disrupted. Human chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2 including Harlequin icthyosis, sitosterolemia and Alstré°‰ syndrome.

Supplier: Bioss

TNIK is a MSN protein kinase that interacts with both TNF receptor-associated factor 2 (TRAF2) and the adapter protein NCK. The protein has been shown to activate the c-Jun N-terminal kinase pathway when over expressed in Phoenix-A cells. TNIK has been shown to phosphorylate gelsolin, the principal intracellular and extracellular actin-severing protein, in vitro. This and evidence from mutational studies suggest that TNIK functions in the regulation of the cytoskeleton. Northern analysis indicates TNIK expression in human heart, skeletal muscle, and brain, with lower levels of expression in kidney, liver, lung, and pancreas. ESTs have been isolated from human tissue libraries, including normal amnion, gallbladder and skin.