127934 Results for: "Bioss"

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Probable inhibitory regulator of the Ras-cyclic AMP pathway.

Supplier: Bioss

intracellular stimulation of guanylate cyclase (GC) by calcium, a key event in the recovery of the dark state of rod photoreceptors after exposure to light, is mediated by guanylate cyclase-activating protein (GCAP1). GCAPs are calcium-The binding proteins belonging to the calmodulin superfamily. GCAP1 is a calcium-binding protein that stimulates synthesis of c-GMP in photoreceptors. GCAP1 is present in rod and cone photoreceptor outer segments where phototransduction occurs. In contrast to other calcium-binding proteins from the calmodulin superfamily, the calcium-free form of GCAP1 stimulates the effector enzyme. By molecular cloning of human and mouse GCAP cDNA, the known mammalian GCAPs are found to be more than 90% similar, consisting of 201 to 205 amino acids, and containing three identically conserved calcium-binding sites. A related protein, GCAP2, is detectable only in the retina and results from a gene duplication event.

Supplier: Bioss

This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein is found to possess 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Use of alternative polyA sites has been noted for this gene. [provided by RefSeq].

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TLX3 (HOX11L2, RNX) belongs to a family of orphan homeobox genes that encode DNA binding nuclear transcription factors. Members of the HOX11 gene family are characterized by a threonine 47 replacing cytosine in the highly conserved homeodomain. This transcription factor is required for hematopoiesis. It is overexpressed in childhood acute lumphoblastic leukemia.

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Glycosyltransferases that mediate the regio- and stereoselective transfer of sugars, such as the fucosyltransferases, determine cell surface-carbohydrate profiles, which is an essential interface for biological recognition processes. GTDC1 (Glycosyltransferase-like domain-containing protein 1), also known as Mat-Xa, is a 458 amino acid protein belonging to the glycosyltransferase 1 family. GTDC1 is ubiquitously expressed, with highest levels found in peripheral blood leukocytes, spleen, lung and testis.An extremely rare recessive genetic disorder, Alstré°‰ syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2.

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Mitoferrin1, SLC25A37, belongs to the mitochondrial carrier family and contains 3 Solcar repeats. It is a mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells and plays an essential role in heme biosynthesis.

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Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase /c-Jun N-terminal kinase (SAPK/JNK)

Supplier: Bioss

Equilibrative nucleoside transporters (ENTs) regulate many physiological processes and are widely distributed in mammals, plants, yeasts, insects, nematodes and protozoans. They enable facilitated diffusion of hydrophilic nucleosides, such as adenosine and nucleoside analogs, across cell membranes. ENTs are required for uptake of antiviral and anticancer nucleoside drugs and influence a variety of physiological processes, such as neurotransmission and platelet aggregation, by regulating the amount of adenoside available to cell surface receptors. Equilibrative nucleoside transporter 1 (ENT1), also designated solute carrier family 29 (nucleoside transporters), member 1, belongs to the SLC29A transporter family and is a mammalian ENT isoform. ENT1, along with ENT3, mediates the majority of influx and efflux of nucleosides across the plasma membrane.

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PDZK7, also known as PDZD7, is a 517 amino acid protein that contains two PDZ (DHR) domains. Encoded by a gene that maps to human chromosome 10q24.31, PDZK7 is conserved in dog, mouse and rat, and exists as three alternatively spliced isoforms. PDZK7 is known to interact with Harmonin, MASS1, USH1G and Usherin. Localizing to nucleus, PDZK7 is expressed in retinal pigment epithelium and inner ear. Biallelic inactivation of PDZK7 can cause non-syndromic hearing impairment and chromosomal aberrations, which are linked to non-syndromic sensorineural deafness. PDZK7 mutations are also linked to Usher syndrome, which is characterized by retinitis pigmentosa and sensorineural deafness, and Alzheimer disease. The gene that encodes PDZK7 maps to human chromosome 10q24.31.

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AGPS is a 658 amino acid enzyme that is required for glycerolipid metabolism and ether lipid biosynthesis. localised to the inner aspect of the peroxisomal membrane, AGPS is likely part of a heterotrimeric complex that is also composed of GNPAT and a modified form of GNPAT. Containing one FAD-binding PCMH-type domain, AGPS utilizes FAD as a cofactor in the synthesis of alkyl-glycerone 3-phophate and a long-chain acid anion from 1-acteyl-glyerone 3-phosphate and a long-chain alcohol. Defects in the gene encoding AGPS results in rhizomelic chondrodysplasia punctata type 3, a disease characterised by vertebral disorders, severe mental retardation, cutaneous lesions, cataracts and rhizomelic shortening of the humerus and femur.

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Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis. Acts also as nuclear transcriptional coactivator for PPARGC1A/PPARA regulatory pathway to modulate lipid metabolism gene expression. Is involved in adipocyte differentiation. Isoform 1 is recruited at the mitochondrion outer membrane and is involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol.

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Cell cycle progression is subject to arrest at G1 and G2 checkpoints in response to DNA damage, presumably to allow time for DNA repair prior to entry into S and M phase, respectively. The p53 tumor suppressor is required for one such G1 checkpoint and functions to upregulate expression of GADD 45 and the mitotic inhibitory protein p21. GADD 45 stimulates DNA excision repair in vitro and inhibits entry of cells into S phase, and it apparently acts in concert with GADD 153 in inducing growth arrest. A related DNA-damage inducible gene, GADD 34 synergizes with GADD 45 or GADD 153 in suppressing cell growth. PEG-3 (progression elevated gene-3) shares significant homology with GADD 34 and is inducible by DNA damage. An additional GADD related gene, PA26, is a possible target of p53. Three isoforms of PA26 have been identified as PA26-T1, PA26-T2 and PA26-T3.

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Ghrelin is an endogenous ligand for the growth hormone secretagogue receptor and is involved in regulating growth hormone release. Ghrelin is derived from a preprohormone called preproghrelin, which also generates a second peptide called obestatin. Obestatin is an endogenous ligand for the orphan G protein-coupled receptor GPR39 and is involved in satiety and decreased food intake. Also known as Appetite regulating hormone; GHRL; Growth hormone releasing peptide; Growth hormone secretagogue; M46 protein; Motilin related peptide; MTLRP; Obestatin; Obestatin preprohormone; PRO1066; UNQ524. Sequence notes: Gly-Ser-Ser-Phe-Leu-Ser-Pro- Glu-His-Gln-Lys-Ala-Gln-Gln-Arg-Lys-Glu- Ser-Lys-Lys-Pro-Pro-Ala-Lys-Leu-Gln-Pro- Arg (mo, rat).

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P2RX3 is a member of the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and transduces ATP-evoked nociceptor activation. P2RX3 is important for peripheral pain responses, and controls urinary bladder volume reflexes.

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DCUN1D1 (DCUN1 domain-containing protein 1) contains a DUF298 domain and a UBA-like ubiquitin. Forms part of an E3 ubiquitin ligase complex for neddylation. Required for neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes by enhancing the rate of cullins neddylation. Functions to recruit the NEDD8-charged E2 enzyme to the cullin component. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity. Acts also as an oncogene facilitating malignant transformation and carcinogenic progression. Defects in DCUN1D1 may be a cause of squamous cell carcinomas.Strongly overexpressed in thyroid tumors, bronchioloalveolar carcinomas, and malignant tissues of squamous cell carcinoma of the oral tongue. Not overexpressed in aggressive adrenocortical carcinomas.

Supplier: Bioss

Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the elongin B and C complex. Serveral other families of proteins also contain SOCS boxes but differ from the SOCS proteins in the type of domain they contained upstream of the SOCS box. Four members of the ankyrin repeat and SOCS box-containing (ASB) protein family are identified and termed as ASB-1, ASB-2, ASB-3 and ASB-4. ASB-1 is expressed in multiple organs, including the hematopoietic compartment. ASB-1 knock-out mice display a diminution of spermatogenesis with less complete filling of seminiferous tubules. Asb-2 is a novel retinoic-acid (RA)-induced gene in acute promyelocytic leukemia (APL) cells and its expression induces growth-inhibition and chromatin condensation recapitulating early events critical to RA-induced differentiaiton of APL cells. ASB-2 is directly induced by all-trans retinotic acid, by the binding of RARa to the RAR binding element/RXR binding element in the Asb-2 promoter.

Supplier: Bioss

May have a role in chronic inflammations and may stimulate production of constitutive rather than inflammatory chemokines and cytokines. Forms a receptor signaling complex with TYROBP and triggers activation of the immune responses in macrophages and dendritic cells.

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KRT82 is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin.

Supplier: Bioss

Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6.

Supplier: Bioss

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize gp130 for initiating signal transmission. Binds to IL6/IL6R (alpha chain) complex, resulting in the formation of high-affinity IL6 binding sites, and transduces the signal. Does not bind IL6. May have a role in embryonic development.

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Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol.

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The ADP-ribosylation factor (ARF) protein family are structurally and functionally conserved members of the Ras superfamily of regulatory GTP-binding proteins. ARFs influence vesicle trafficking and signal transduction in eukaryotic cells and they play a central role in the maintenance of organelle integrity, assembly of coat proteins and activation of phospholipase D (PC-PLD). ARFRP1 (ADP-ribosylation factor related protein 1), also known as ARP or ARL18, is a 201 amino acid membrane-associated GTPase that localizes to the plasma membrane and the Golgi apparatus and is related to the ARF family of regulatory proteins. Expressed in a variety of tissues, ARFRP1 interacts with SYS1 and is thought to be involved in plasma membrane-related Signalling events. ARFRP1 exists as multiple alternatively spliced isoforms and is encoded by a gene which maps to a gene cluster on chromosome 20 that is commonly overexpressed in tumours, suggesting a role for ARFRP1 in carcinogenesis.

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PDHX is component X of the pyruvate dehydrogenase (PDH) complex.It is required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex. PDHX is expressed in the mithochondrion.

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Cyclooxygenases metabolize arachidonate to five primary prostanoids: PGE2, PGF2?, PGI2, TXA2 and PGD2. These lipid mediators interact with specific members of G protein-coupled prostanoid receptors, designated EP, FP, IP, TP and DP, respectively. The IP Receptor binds prostacyclin, PGI2, the main pro-stanoid synthesized by vascular tissues.Upon binding to the IP Receptor, prostacyclin activates adenylate cyclase primarily through the Gas protein. The gene encoding the human IP Receptor is located on chromosome 19. It is expressed as a glycosylated and phosphorylated protein, which is abundantly expressed in vascular tissues such as aorta, lung, atrium and ventricle, as well as in kidney, thymus, spleen and neurons.

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Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP). Isoform 2 lacks activity is an dominant-negative inhibitor of caspase-9.

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Made up 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 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. The C8orf44 gene product has been provisionally designated C8orf44 pending further characterisation.

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The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localised to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterised to date.

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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 C6orf182 gene product has been provisionally designated C6orf182 pending further characterisation.

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NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (By similarity).