127976 Results for: "Bioss"

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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

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

IFT43 is a gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Supplier: Bioss

MAX is a basic helix-loop-helix, leucine zipper protein that forms heterodimers with MYC and MAD. It is involved in regulating gene expression.

Supplier: Bioss

Dab1, a homolog of the Drosophila Disabled protein, is an adaptor protein involved in neural development. This cytoplasmic protein is tyrosine-phosphorylated during rapid expansion of the developing nervous system, and it is thought to interact with other proteins via a domain similar to the PTB domains of the Shc family. Dab1 has been shown to interact with the SH2 domains of Src, Fyn and Abl (1). Mutations in Dab1 result in widespread abnormalities in the brain, similar to those seen in Reelin mutants (2). Reelin is a secreted protein thought to play a role in directing migrating neurons (3). Evidence suggests that Dab1 functions downstream of Reelin in a signaling pathway involved in positioning cells in the developing brain (4). Dab2 (also designated DOC-2) is a mitogen-responsive phosphoprotein that binds the SH3 domain of Grb2, and it is thought to be a negative regulator of growth (5).

Supplier: Bioss

MAX is a basic helix-loop-helix, leucine zipper protein that forms heterodimers with MYC and MAD. It is involved in regulating gene expression.

Supplier: Bioss

Dual specificity kinase. Is activated by cytokines and environmental stress in vivo. Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinase p38.

Supplier: Bioss

Receptor-proximal protein kinase regulating integrin-mediated signal transduction. May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B.

Supplier: Bioss

Receptor-proximal protein kinase regulating integrin-mediated signal transduction. May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B.

Supplier: Bioss

The X and Y chromosomes are the human sex chromosomes. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. The combination of an X and Y chromosome lead to normal male development while two copies of X lead to normal female development. There are a number of conditions related to an unsual number and combination of sex chromosomes being inherited. More than one copy of the X chromosome with a Y chromosome causes Klinefelter's syndrome. A single copy of X alone leads to Turner's syndrome. More than 2 copies of the X chromosome, in the absence of a Y chromosome, is known as Triple X syndrome. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome. The FAM104B gene product has been provisionally designated FAM104B pending further characterization.

Supplier: Bioss

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.

Supplier: Bioss

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq]

Supplier: Bioss

This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009].

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BCL2L15.

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C6orf151.

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This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq]

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CCDC87

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CCDC87

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FIG4 is a 907 amino acid protein that contains one SAC domain through which it is thought to function as a phosphoinositide phosphatase that may play an important role in signal transduction and vesicle trafficking. Defects in the gene encoding FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J) and amyotrophic lateral sclerosis type 11 (ALS11), both of which negatively affect the nervous system. CMT4J is a recessive demyelinating disorder of the peripheral nervous system and is characterized by reduced motor nerve conduction velocities and axonal degeneration. Unlike CMT4J, ALS11 is characterized by the degeneration of upper motor neurons in the brain and lower neurons in the spinal cord, causing paralysis and, ultimately, death.

Supplier: Bioss

The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion, and drug extrusion and delivery. CCDC83 (coiled-coil domain-containing protein 83), also known as HSD9, is 413 amino acid protein that exists as three alternatively spliced isoforms. The gene encoding CCDC83 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.

Supplier: Bioss

CCDC87

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The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq]

Supplier: Bioss

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq]

Supplier: Bioss

Advillin is an 819 amino acid protein that localizes to both the cytoplasm and the cytoskeleton and contains one HP domain and six gelsolin-like repeats. Expressed at high levels in colon and small intestine and at lower levels in uterus, thymus, testis and prostate, advillin functions as a calcium-regulated Actin-binding protein that may be involved in the development of neuronal cells, specifically those that form ganglia. The gene encoding advillin maps to human chromosome 12, which 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.

Supplier: Bioss

Advillin is an 819 amino acid protein that localizes to both the cytoplasm and the cytoskeleton and contains one HP domain and six gelsolin-like repeats. Expressed at high levels in colon and small intestine and at lower levels in uterus, thymus, testis and prostate, advillin functions as a calcium-regulated Actin-binding protein that may be involved in the development of neuronal cells, specifically those that form ganglia. The gene encoding advillin maps to human chromosome 12, which 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.

Supplier: Bioss

High density lipoproteins (HDLs) have been proposed to function jointly with lecithin:cholesterol acyltransferase and CETP to facilitate cholesterol transport from tissues to the liver. This mechanism, referred to as reverse cholesterol transport, is physiologically important because it maintains systemic cholesterol levels. CETP is responsible for neutral lipid transfer activity in plasma in numerous species. Since CETP is able to accelerate specifically the exchange of lipid components between pro- and anti-atherogenic lipoprotein fractions, it may be a key determinant of the global atherogenicity of the plasma lipoprotein profile and arises as a possible target in atherosclerosis prevention. CETP has an important role in reverse cholesterol transport and shaping and affecting the composition of plasma lipoproteins. In general elevated levels of CETP have been associated with increased risk of coronary heart disease.

Supplier: Bioss

HFM1.

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The Zyxin family of proteins contains five members: Ajuba, Limd1, LPP, TRIP6 and Zyxin. Limd1 (LIM domain-containing protein 1) is a ubiquitously expressed tumor suppressor containing 3 LIM zinc-binding domains. LIM domains consist of a cysteine-rich consensus sequence containing two distinct zinc-binding subdomains, which mediate protein-protein interactions. Limd1 interacts with the proteins SQSTM1, Rb, p62 and TRAF6. Limd1 was first identified when the deletion of its gene was noted in some cervical cancers. Limd1 blocks in vitro and in vivo tumor growth and is down-regulated in lung cancer. Limd1 may regulate osteoclast development under stressful conditions via its interactions with TRAF6 and p62.

Supplier: Bioss

The Zyxin family of proteins contains five members: Ajuba, Limd1, LPP, TRIP6 and Zyxin. Limd1 (LIM domain-containing protein 1) is a ubiquitously expressed tumor suppressor containing 3 LIM zinc-binding domains. LIM domains consist of a cysteine-rich consensus sequence containing two distinct zinc-binding subdomains, which mediate protein-protein interactions. Limd1 interacts with the proteins SQSTM1, Rb, p62 and TRAF6. Limd1 was first identified when the deletion of its gene was noted in some cervical cancers. Limd1 blocks in vitro and in vivo tumor growth and is down-regulated in lung cancer. Limd1 may regulate osteoclast development under stressful conditions via its interactions with TRAF6 and p62.

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].