127977 Results for: "Bioss"

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Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation.

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Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 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 C6orf174 gene product has been provisionally designated C6orf174 pending further characterization.

Supplier: Bioss

GTP-binding protein 9 is a 396 amino acid protein that belongs to the Obg-related GTPase family under the translation factors (TRAFAC) class. Originally thought to only have GTPase activity, Obg-related GTPase family members have been shown to also have ATPase activity. In Homo sapians, GTPBP9 exhibits a preference for binding ATP over GTP, with GTP binding occuring only at high nucleotide concentration. One cause for ATP affinity and GTP discrimination is thought to be a substitution of glutamine for a hydrophobic amino acid in Obg-related family members; this is the same substitution that inactivates Ras-like GTPases. GTPBP9 contains a C-terminal TGS domain that binds to ligands and an N-terminal G domain which binds nucleotides. GTPBP9 is expressed as three isoforms produced by alternative splicing.

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The GLTP (glycolipid transfer protein) superfamily is defined by a unique lipid transfer/binding fold (GLTP fold) that accelerate glycolipid intermembrane transfer. GLTPD2 is a 291 amino acid protein that belongs to the GLTP family. The gene encoding GLTPD2 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, p53 and BRCA1. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth are both linked to mutations on chromosome 17. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.

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C10orf27, also known as spatial, is a 351 amino acid cytoplasmic protein belonging to the spatial family. C10orf27 is suggested to play a role in spermatid differentiation. Existing as two alternatively spliced isoforms, C10orf27 is widely expressed in multiple tissues, including brain, thymus and testis. C10orf27 may be associated with multiple sclerosis (MS) susceptibility and pathogenesis. MS is an inflammatory disease that causes gradual destruction of myelin in the central nervous system. C10orf27 is encoded by a gene located on human chromosome 10, which contains over 800 genes and 135 million nucleotides, making up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome.

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Na+/H+ exchangers (NHEs) catalyze the transport of Na+ in exchange for H+ across membranes in organisms and are required for numerous physiological processes. NHEDC2 (Na+/H+ exchanger-like domain-containing protein 2), also known as NHA2, is a 537 amino acid mitochondrial protein. NHEDC2 is involved in organelle volume homeostasis by catalyzing the exchange of protons for Na+ and Li+ across the inner mitochondrial membrane. Found in red blood cells, NHEDC2 is required for bone resorption activity and osteoclast differentiation. As a multi-pass membrane protein, NHEDC2 is expressed as two isoforms produced by alternative splicing events.

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At the onset of mitosis, assembly of the mitotic spindle requires a global change in the activity of microtubule-binding proteins. EML3 (Echinoderm microtubule-associated protein-like 3) is a 896 amino acid protein that likely modifies microtubule dynamics by making them longer. Through colocalization with spindle microtubules during mitosis, EML3 plays a role in correct metaphase chromosome alignment. EML3 contains a nuclear localization signal and a microtubule-binding domain. The gene encoding EML3 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.

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Exhibits weak E3 ubiquitin-protein ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. Can ubiquitinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation. Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations. Plays a role in the control of mitochondrial morphology. Promotes mitochondrial fragmentation and influences mitochondrial localization. The function may implicate its abilty to sumoylate DNM1L. Inhibits cell growth. When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis. Involved in the modulation of innate immune defense against viruses by inhibiting DDX58-dependent antiviral response. Can mediate DDX58 sumoylation and disrupt its polyubiquitination.

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ASH1L is a 2,969 amino acid protein encoded by the human gene ASH1L. ASH1L belongs to the histone-lysine methyltransferase family (SET2 subfamily) and contains three AT hook DNA-binding domains, one AWS domain, one BAH domain, one bromodomain, one PHD-type zinc finger, one post-SET domain and one SET domain. It is a widely expressed nuclear protein with highest expression found in brain, heart and kidney. ASH1L is a histone methyltransferase and is believed to methylate 'Lys-4' of Histone H3, which is a specific tag for epigenetic transcriptional activation.

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Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf196 gene product has been provisionally designated C20orf196 pending further characterization.

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E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR.

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FANK1 (fibronectin type III and ankyrin repeat domains 1), also known as HSD13, is a 345 amino acid nuclear and cytoplasmic testis-specific protein found primarily in pachytene spermatocytes and round spermatids. Containing six ANK repeats and a single fibronectin type-III domain, FANK1 undergoes alternative splicing events to form three isoforms. Possessing DNA binding activity, FANK1 is suggested to act as a transcription factor and may regulate gene expression during spermatogenesis. The gene encoding FANK1 maps to human chromosome 10, which contains over 800 genes and 135 million nucleotides, making up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome.

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Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathway. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner.

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This is a receptor for corticotropin releasing factor. Shows high-affinity CRF binding. Also binds to urocortin I, II and III. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.

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Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI).

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This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq].

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Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322.

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Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322.

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Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.

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This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008].

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The Sp transcription factor family includes Sp1, Sp2, Sp3 (SPR-2) and Sp4 (SPR-1). Sp transcription factors share similar structures but do not share simi-lar functions. All four proteins contain a highly conserved DNA-binding domain composed of three zinc fingers at the C-terminus. Sp family members bind the consensus sequence GGGGCGGGGC and other closely related sequences which are known as GC boxes. Sp1, Sp3 and Sp4 share a high affinity for GC boxes while Sp2 does not. Sp2 only weakly binds to GT boxes. Sp1, Sp2 and Sp3 are ubiquitously expressed, while Sp4 is abundantly expressed in brain with limited expression in other tissues. Sp1 and Sp3, but not Sp2 or Sp4, interact with E2, a regulatory element for the ∫4 subunit of neuronal nicotinic acetylcholine receptors. Sp3 is the only Sp member to inhibit Sp1 and Sp4 media

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Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The C16orf72 gene product has been provisionally designated C16orf72 pending further characterization.

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Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.

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FERM domains are roughly 150 amino acids in length and are found in a number of cytoskeletal-associated proteins such as Ezrin, Radixin, Moesin and 4.1 (erythrocyte membrane protein band 4.1), where they provide a link between cytoskeletal signals and membrane dynamics. FRMD5 (FERM domain-containing protein 5) is a 570 amino acid single-pass membrane protein that contains one FERM domain and exists as two alternatively spliced isoforms. The gene encoding FRMD5 maps to human chromosome 15, which houses over 700 genes and comprises nearly 3% of the human genome. Angelman syndrome, Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localized genes.

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Anti-DHRS7C Rabbit Polyclonal Antibody

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Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization.

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DHRS13 (dehydrogenase/reductase SDR family member 13), also known as UNQ419/PRO853, is a 377 amino acid secreted protein belonging to the short-chain dehydrogenases/reductases (SDR) family. DHRS13 is presumed to function as an oxidoreductase and is phosphorylated, potentially by ATM or ATR, upon DNA damage. DHRS13 exists as two isoforms produced by alternative splicing events. The gene encoding DHRS13 maps to human chromosome 17, which comprises over 2.5% of the human genome and encodes over 1,200 genes. Neurofibromatosis, dysregulated Schwann cell growth, Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are associated with chromosome 17.

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Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue.

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Plays a complex role in regulating the basal catalytic activity of the alpha subunit (By similarity). Participates in Wnt signaling.

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Members of the NFAT (nuclear factor of activated T cells) family of transcription factors are related to NFkB/Rel proteins and form cooperative complexes with the AP-1 proteins, Fos and Jun, on DNA to regulate cytokine expression in T cells. NFAT proteins are widely expressed and alternatively modified to generate splice variants, and they are localized to both the cytosol (NFATc) and to the nucleus (NFATn). NFAT1, NFAT2, and NFAT4 are predominantly expressed in immune cells, and NFAT2 and NFAT3 are expressed at high levels in cardiac tissues. In addition to activating cytokine gene transcription, NFAT2 is also implicated in cardiac valve development, and NFAT3 is involved in cardiac hypertrophy. NFAT5 is detected in both immune and nonimmune cells and, like other NFAT proteins, contains a highly conserved Rel-like binding domain that mediates NFAT proteins associating with specific consensus sequences on DNA. NFAT proteins are activated by increases in intracellular calcium, which leads to the calmodulin-dependent phosphatase, calcineurin, dephosphorylating NFAT proteins. This activating event induces a conformational change in the protein structure that exposes the nuclear localization signal and facilitates the translocation of NFAT proteins from the cytosol into the nucleus.