127977 Results for: "Bioss"

Supplier: Bioss

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Growth/differentiation factors (GDFs) are members of the TGF superfamily (1,2). Members of the TGF superfamily are involved in embryonic development and adult tissue homeostasis (1). GDF-1 expression is almost exclusively restricted to the central nervous system and mediates cell differentiation events during embryonic development (3). Neither GDF-3 (Vgr-2) nor GDF-9 contains the conserved cysteine residue which is found in most other TGF superfamily members. GDF-3 is detectable in bone marrow, spleen, thymus and adipose tissue, whereas GDF-9 has only been detected in ovary (4). GDF-5 (also designated CDMP-1) has been shown to induce activation of plasminogen activator, thereby inducing angiogenesis. It is predominantly expressed in long bones during fetal embryonic development and is involved in bone formation. (5). GDF-5 mutations have been identified in mice with the mutation brachypodism (bp), a mutation which affects the length and number of bones in limbs (6). GDF-6 and GDF-7 are closely related to GDF-5 (6). GDF-8 has been shown to be a negative regulator of skeletal muscle mass (1).

Supplier: Bioss

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008].

Supplier: Bioss

Growth/differentiation factors (GDFs) are members of the TGF superfamily (1,2). Members of the TGF superfamily are involved in embryonic development and adult tissue homeostasis (1). GDF-1 expression is almost exclusively restricted to the central nervous system and mediates cell differentiation events during embryonic development (3). Neither GDF-3 (Vgr-2) nor GDF-9 contains the conserved cysteine residue which is found in most other TGF superfamily members. GDF-3 is detectable in bone marrow, spleen, thymus and adipose tissue, whereas GDF-9 has only been detected in ovary (4). GDF-5 (also designated CDMP-1) has been shown to induce activation of plasminogen activator, thereby inducing angiogenesis. It is predominantly expressed in long bones during fetal embryonic development and is involved in bone formation. (5). GDF-5 mutations have been identified in mice with the mutation brachypodism (bp), a mutation which affects the length and number of bones in limbs (6). GDF-6 and GDF-7 are closely related to GDF-5 (6). GDF-8 has been shown to be a negative regulator of skeletal muscle mass (1).

Supplier: Bioss

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed.

Supplier: Bioss

The pantothenate kinase (PANK) family of proteins catalyzes the first step in coenzyme A (CoA) biosynthesis. Coenzyme A is an important coenzyme involved in the synthesis and oxidation of fatty acids, as well as the oxidation of pyruvate in the citric acid (Krebs) cycle. Pantothenate kinase 3 (PANK3) is a 370 amino acid member of the pantothenate kinase family that plays a role in the physiological regulation of the intracellular CoA concentration. Localized to the cytoplasm, PANK3 is regulated by feedback inhibition by CoA and its thioesters. PANK3 transfers a phosphate from ATP to pantothenate (Vitamin B5), resulting in formation of 4’-phosphopantothenate. Closely related to its family members, PANK1, PANK2 and PANK4, PANK3 is highly expressed in liver. Pantothenate kinase associated neurodegeneration (PKAN) results from mutations in the gene encoding PANK2, the only mitochondria targeted human PANK.

Supplier: Bioss

Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching.

Supplier: Bioss

The BTB (Broad-Complex, Tramtrack and Bric a brac) domain, also known as the POZ (Poxvirus and Zinc finger) domain, is an N-terminal homodimerisation domain that contains multiple copies of kelch repeats and/or C2H2-type zinc fingers. Proteins that contain BTB domains are thought to be involved in transcriptional regulation via control of chromatin structure and function. The Kelch domain-containing protein 9 (KLHDC9), also designated Kelch/ankyrin repeat-containing cyclin A1-interacting protein (KARCA1), contains 3 Kelch repeats and interacts with CCNA1. The gene encoding KLHDC9 maps to chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene of human chromosome 1, which encodes lamin A. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

Supplier: Bioss

The leucine-rich repeat-containing protein 2 (LRRC2) is a 371 amino acid protein that contains 9 LRR repeats. The gene encoding LRRC2 maps to chromosome 3, which encodes over 1,100 genes. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

Supplier: Bioss

CPXCR1 is widely expressed in fetal tissues, including the tongue, mandible and palate with an unknown function. Cleft palate most commonly occurs as a sporadic multifactorial disorder with a clear but difficult to define genetic component. As a semi-dominant disorder, X-linked cleft palate (CPX) provides a useful model to investigate a congenital defect that is little influenced by non-genetic factors.

Supplier: Bioss

Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2-activated osteoblasts.

Supplier: Bioss

Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDH8 (protocadherin-8), also known as Arcadlin or PAPC, is a 1,070 amino acid single-pass type I membrane protein that contains six cadherin domains and belongs to the protocadherin family. Localized to the cell membrane and expressed specifically in fetal and adult brain, PCDH8 is thought to play a role in cell adhesion events in the central nervous system (CNS). PCDH8 is inactivated or silenced in breast cancer, suggesting a possible role in tumor suppression. Two isoforms of PCDH8 that differ in their cytoplasmic tails are expressed due to alternative splicing events.

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 C6orf165 gene product has been provisionally designated C6orf165 pending further characterisation.

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 C6orf165 gene product has been provisionally designated C6orf165 pending further characterisation.

Supplier: Bioss

Clathrin-mediated endocytosis is the pathway by which many receptors for nutrients and hormones are internalized to be recycled or down-regulated. During formation of clathrin coated membranes, clathrin co-assembles with heterotetrameric molecules known as assembly polypeptides (APs) or adaptors which form a layer of protein coat between the clathrin lattice and the membrane. There are two characterized adaptors AP1 and AP2. AP1 is associated with clathrin coated vesicles at the trans-Golgi network and AP2 is associated with the endocytic clathrin coated vesicles at the plasma membrane and has been shown to specifically interact with Shc and EGF receptor. AP2 is composed of four subunits, two separate 100 kDa gene products with similar domain structures (alpha and beta adaptin) and a 50 and 17 kDa subunit. There are two alpha-adaptin genes, alpha A and alpha C which have a tissue specific pattern of expression.

Supplier: Bioss

Clathrin-mediated endocytosis is the pathway by which many receptors for nutrients and hormones are internalized to be recycled or down-regulated. During formation of clathrin coated membranes, clathrin co-assembles with heterotetrameric molecules known as assembly polypeptides (APs) or adaptors which form a layer of protein coat between the clathrin lattice and the membrane. There are two characterized adaptors AP1 and AP2. AP1 is associated with clathrin coated vesicles at the trans-Golgi network and AP2 is associated with the endocytic clathrin coated vesicles at the plasma membrane and has been shown to specifically interact with Shc and EGF receptor. AP2 is composed of four subunits, two separate 100 kDa gene products with similar domain structures (alpha and beta adaptin) and a 50 and 17 kDa subunit. There are two alpha-adaptin genes, alpha A and alpha C which have a tissue specific pattern of expression.

Supplier: Bioss

HGD is a 445 amino acid protein that belongs to the homogentisate dioxygenase family and is involved in the pathway of amino acid degradation. Expressed at high levels in kidney, colon, liver, prostate and small intestine, HGD uses iron as a cofactor to catalyse the oxygen-dependent conversion of homogentisate to 4-maleylacetoacetate, a reaction that is the fourth step in the creation of L-phenylalanine from fumarate and acetoacetic acid. Defects in the gene encoding HGD are the cause of alkaptonuria (AKU), an autosomal recessive disorder that is characterised by urine that turns dark on standing and alkalinisation, black ochronotic pigmentation of cartilage and collagenous tissues and spine arthritis.

Supplier: Bioss

NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system.

Supplier: Bioss

Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.

Supplier: Bioss

Apolipoprotein-E (apoE) is a protein component of plasma lipoproteins that mediates the binding, internalization and catabolism of lipoprotein particles. It can serve as a ligand for several lipoprotein receptors, including the LDL (ApoB/E) receptor and the hepatic apoE (chylomicron remnant) receptor. apoE is produced in most organs and occurs in all plasma lipoprotein fractions, constituting 10-20% of VLDL (very low density lipoprotein) and 1-2% of HDL (high density lipoprotein). Three major isoforms of apoE have been described in human (E2, E3 and E4) which differ by only one or two amino acids. oestrogen receptor has been shown to upregulate apoE gene expression via the ERa-mediated pathway, indicating a potential role for apoE in atherosclerosis. This is consistent with studies in mice in which plasma apoE levels were raised, thereby protecting the mice from diet-induced atherosclerosis. apoE has also been shown to be a potent inhibitor of proliferation and thus may play a role in angiogenesis, tumor cell growth and metastasis.

Supplier: Bioss

GAD-65 and GAD-67, glutamate decarboxylases, function to catalyze the production of GABA (gamma-aminobutyric acid). In the central nervous system GABA functions as the main inhibitory transmitter by increasing a Cl- conductance that inhibits neuronal firing. GABA has been shown to activate both ionotropic (GABAA) and metabotropic (GABAB) receptors as well as a third class of receptors called GABAC. Both GABAA and GABAC are ligand-gated ion channels, however, they are structurally and functionally distinct. Members of the GABAA receptor family include GABAA R Alpha 1-6, GABAA R Beta 1-3, GABAA R Gamma 1-3, GABAA R Delta, GABAA R Epsilon, GABAA R Zeta 1 and GABAA R Zeta 2. The GABAB family is composed of GABAB R1 Alpha and GABAB R1 Beta. GABA transporters have also been identified and include GABA T-1, GABA T-2 and GABA T-3 (also designated GAT-1, -2, and -3). The GABA transporters function to terminate GABA action.

Supplier: Bioss

The A Kinase Anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. AKAP6 is a member of the AKAP family. It is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum.

Supplier: Bioss

NTF97 is involved in nuclear protein import, either by associating itself with an adapter protein (for example, importin-alpha subunit which binds to nuclear localization signals (NLS) in cargo substrates), or by acting autonomously as a nuclear transport receptor (serves as NLS receptor, docking of the importin/substrate complex to the nuclear pore complex).

Supplier: Bioss

BPTF is a 2907 amino acid protein encoded by the human gene BPTF. BPTF belongs to the PBTF family and contains one bromodomain, one DDT domain and two PHD-type zinc fingers. BPTF acts as a histone-binding component of NURF (nucleosome-remodeling factor). The NURF complex, which consists of SMARCA1, BPTF, RbAp46 and RbAp48, acts to catalyse ATP-dependent nucleosome sliding and facilitates transcription of chromatin. It specifically recognizes histone H3 tails trimethylated on 'Lys-4' (H3-K4Me3), which mark transcription start sites of virtually all active genes. BPTF may also help regulate transcription through direct binding to DNA or transcription factors.

Supplier: Bioss

BPTF is a 2,907 amino acid protein encoded by the human gene BPTF. BPTF belongs to the PBTF family and contains one bromodomain, one DDT domain and two PHD-type zinc fingers. BPTF acts as a histone-binding component of NURF (nucleosome-remodeling factor). The NURF complex, which consists of SMARCA1, BPTF, RbAp46 and RbAp48, acts to catalyze ATP-dependent nucleosome sliding and facilitates transcription of chromatin. It specifically recognizes histone H3 tails trimethylated on 'Lys-4' (H3-K4Me3), which mark transcription start sites of virtually all active genes. BPTF may also help regulate transcription through direct binding to DNA or transcription factors.

Supplier: Bioss

Belonging to the major facilitator superfamily, DIRC2 (disrupted in renal carcinoma protein 2) is a 478 amino acid multi-pass membrane protein that is primarily expressed in kidney proximal tubular cells. The genes encoding DIRC2 and DIRC3 are located at a translocation breakpoint which occurs frequently in individuals affected by familial renal cell carcinoma. Fusion transcripts that result from these translocations may affect normal protein function. This evidence suggests that, due to its chromosomal location, deregulation of the DIRC2 gene may cause haploinsufficiency and therefore result in the onset of tumor growth. There are two isoforms of DIRC2 which are produced as a result of alternative splicing events.

Supplier: Bioss

Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside analogs such as uridine, cytidine, thymidine, adenosine, inosine, guanosine, and azidothymidine. In (PubMed:16873718) adenosine is efficiently transported but in a fashion highly sensitive to extracellular pH, with maximal activity in the pH range 5.5 to 6.5. Glu-206 is essential for the cation selectivity and may function as the charge sensor for cationic substrates. Transport is chloride and sodium-independent but appears to be sensitive to changes in membrane potential. Weakly inhibited by the classical inhibitors of equilibrative nucleoside transport, dipyridamole, dilazep, and nitrobenzylthioinosine. May play a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia.

Supplier: Bioss

Belonging to the major facilitator superfamily, DIRC2 (disrupted in renal carcinoma protein 2) is a 478 amino acid multi-pass membrane protein that is primarily expressed in kidney proximal tubular cells. The genes encoding DIRC2 and DIRC3 are located at a translocation breakpoint which occurs frequently in individuals affected by familial renal cell carcinoma. Fusion transcripts that result from these translocations may affect normal protein function. This evidence suggests that, due to its chromosomal location, deregulation of the DIRC2 gene may cause haploinsufficiency and therefore result in the onset of tumor growth. There are two isoforms of DIRC2 which are produced as a result of alternative splicing events.

Supplier: Bioss

May be involved in vascular wall and kidney homeostasis.

Supplier: Bioss

KSP37 is a 223 amino acid protein that is secreted into the extracellular space and belongs to the fibroblast growth factor-binding protein family. Expressed in serum, as well as in cytotoxic T lymphocytes and peripheral leukocytes, KSP37 is thought to be involved in lymphocyte-mediated immunity, possibly playing a role in the development of asthma. The gene encoding KSP37 maps to human chromosome 4, which encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.