44988 Results for: "Prosci"

Supplier: Prosci

A4GNT is a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane.This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Supplier: Prosci

Cellular senescence, the terminal nondividing state that normal cells enter following completion of their proliferative potential, is the dominant phenotype in hybrids of normal and immortal cells. Fusions of immortal human cell lines with each other have led to their assignment to 1 of several complementation groups. MORF4 is a gene on chromosome 4 that induces a senescent-like phenotype in cell lines assigned to complementation group B.Cellular senescence, the terminal nondividing state that normal cells enter following completion of their proliferative potential, is the dominant phenotype in hybrids of normal and immortal cells. Fusions of immortal human cell lines with each other have led to their assignment to 1 of several complementation groups. MORF4 is a gene on chromosome 4 that induces a senescent-like phenotype in cell lines assigned to complementation group B.

Supplier: Prosci

SIGIRR acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. It attenuates the recruitment of receptor-proximal signaling components to the TLR4 receptor, probably through a TIR-TIR domain interaction with TLR4. Through its extracellular domain it interferes with the heterodimerization of Il1R1 and IL1RAP.

Supplier: Prosci

CLN8 is a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. Childhood-onset NCL are a group of autosomal recessive progressive encephalopathies characterized by the accumulation of autofluorescent material, mainly ATP synthase subunit C, in various tissues, notably in neurons. Based on clinical features, the country of origin of patients, and the molecular genetic background of the disorder, at least seven different forms are thought to exist. CLN8 is characterized by normal early development, onset of generalized seizures between 5 and 10 years, and subsequent progressive mental retardation.This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.

Supplier: Prosci

Thyroid hormones are essential for development of the central nervous system and deficits in these hormones during development affects such cognitive functions as learning and memory (Ambrogini et al., 2005; Chan and Kilby, 2000). Thyroid hormones exert their physiological role mainly through binding to specific nuclear receptors including the predominant isoforms of thyroid hormone receptors TRalpha1, TRalpha2, TRbeta1 and TRbeta2. TRalpha1, TRbeta1 and TRbeta2 bind T3 with high affinity and also bind to thyroid hormone response elements (TREs) on chromatin to regulate the transcriptional processes in several target tissues, including adult rat brain (Constantinou et al., 2005).

Supplier: Prosci

The Ras pathway is a critical signal transduction cascade involved in regulating cellular proliferation, differentiation, survival, and oncogenic transformation. Members of the Raf serine/threonine kinase family are key intermediates in this cascade, functioning to relay signals from activated Ras to the downstream protein kinases MEK and ERK (Marshall, 1996). Previous studies have shown that phosphorylation is required for Raf-1 activation (Dhillon and Kolch, 2002; Chong et al., 2003). Recent work has demonstrated that phosphorylation also regulates the downregulation of Raf (Dougherty et al., 2005) with two sites participating: Ser301 and Ser642.

Supplier: Prosci

SNAP25 (Synaptosomal associated protein of 25 kDa) is a presynaptic plasma membrane protein that is widely distributed throughout the brain and involved in the regulation of neurotransmitter release. Decreased levels of SNAP25 have been found in the brains of patients with Down Syndrome and Alzheimer’s Disease (Greber et al.,1999). In addition, a significant reduction in the hippocampal expression of SNAP25 has also been found in patients with Schizophrenia (Fatemi et al., 2001).

Supplier: Prosci

Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter in the central nervous system. There are two major classes of GABA receptors: the GABAA and the GABAB subtype of receptors. GABAA-Rs are important therapeutic targets for a range of sedative, anxiolytic, and hypnotic agents and are implicated in several diseases including epilepsy, anxiety, depression, and sub-stance abuse. The GABAA-R is a multimeric subunit complex. To date six alphas, four betas and four gamma;s, plus alternative splicing variants of some of these subunits, have been identified (Olsen and Tobin, 1990; Whiting et al., 1999; Ogris et al., 2004). Injection in oocytes or mammalian cell lines of cRNA coding for alpha- and beta-subunits results in the expression of functional GABAA-Rs sensitive to GABA. However, coexpression of a gamma-subunit is required for benzodiazepine modulation. It has recently been suggested that PKCepsilon regulates the sensitivity of GABAA alpha1beta2gamma2 receptors to ethanol and benzodiazepines through phosphorylation of serine 327 in the large intracellular loop of gamma2 (Qi et al., 2007)

Supplier: Prosci

Polyclonal, Host: Rabbit; Species Reactivity: Human, Mouse, Rabbit, S, G; Endogenous rabbit 2,3-cyclic nucleotide-3-phospho-diesterase; Tested Applications: WB, IHC

Supplier: Prosci

Aquaporin 2 (AQP2) is a hormonally regulated water channel located in the renal collecting duct. Mutations in the AQP2 gene cause hereditary nephrogenic diabetes insipidus in humans (Iolascon et al.,2007). A vasopressin induced cAMP increase results in the phosphorylation of AQP2 at serine-256 and its translocation from the intracellular vesicles to the apical membrane of principal cells (van Balkom et al., 2002). Recently, serine-261 has been identified as a novel phosphorylation site on AQP2 and levels of phosphorylated S261 have been shown to decrease with vasopressin treatment suggesting its involvement in vasopressin-dependent AQP2 trafficking (Hoffert et al., 2007).

Supplier: Prosci

Dynamin is a member of a group of nerve terminal proteins called dephosphins that regulate synaptic vesicle endocytosis (Cousin et al., 2001; Graham et al., 2002; Tsuboi et al., 2002). There are 3 known isofoms of Dynamin, each having several splice variants as well. Dynamin I is expressed only in neurons whereas Dynamin II is ubiquitously expressed and Dynamin III is found primarily in the testes. Dynamin 1 is phosphorylated by PKC and dephosphorylated by calcineurin.

Supplier: Prosci

ZNF433 belongs to the krueppel C2H2-type zinc-finger protein family. It contains 19 C2H2-type zinc fingers and 1 KRAB domain. ZNF433 may be involved in transcriptional regulation.

Supplier: Prosci

BRI3BP is involved in the structural dynamics of the ER and affects mitochondrial viability.It is widely expressed in animal cell types, that seems to possess a pro-apoptotic property and can potentiate drug-induced apoptosis.The protein is highly expressed in brain, kidney, and liver, and it mapped to human chromosome 12q24.2-qter.Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).

Supplier: Prosci

ZNF766 belongs to the krueppel C2H2-type zinc-finger protein family. It contains 10 C2H2-type zinc fingers and 1 KRAB domain. ZNF766 may be involved in transcriptional regulation.

Supplier: Prosci

The exact function of PURG is not known, however, it is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. Two transcript variants encoding different isoforms have been found for this gene.

Supplier: Prosci

HAX1 is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease.The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene.

Supplier: Prosci

RAB40B has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles.The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles.

Supplier: Prosci

The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion.The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).

Supplier: Prosci

ADA is an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia.This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

Supplier: Prosci

The GTPBP1 gene is upregulated by interferon-gamma and the protein is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype.This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype.

Supplier: Prosci

NET1 acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. It may be involved in activation of the SAPK/JNK pathway.

Supplier: Prosci

AP3M2 is part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes.This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles.

Supplier: Prosci

This protein is a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication.This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Mutations in this gene have been associated with host susceptibility to viral infection. Alternatively spliced transcript variants encoding different isoforms have been described.

Supplier: Prosci

4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities.4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene.

Supplier: Prosci

FUBP3 may interact with single-stranded DNA from the far-upstream element (FUSE). FUBP3 may activate gene expression.

Supplier: Prosci

KIRREL2 is a single-pass type I membrane protein. KIRREL2 protein is a beta-cell-expressed Ig domain protein and may be involved in pancreas development or beta cell function.

Supplier: Prosci

The exact function of FAM14A remains unknown.

Supplier: Prosci

SFXN3 is a potential iron transporter.

Supplier: Prosci

Receptors for the Fc fragment of IgG, or FCGRs, are cell surface glycoproteins of the Ig superfamily (IgSF). These receptors mediate phagocytosis of IgG-coated pathogens and promote activation of effector cells, leading to inflammatory responses and antibody-mediated cellular cytotoxicity. FCRLA may be implicated in B-cell differentiation and lymphomagenesis.Receptors for the Fc fragment of IgG, or FCGRs (see MIM 146790), are cell surface glycoproteins of the Ig superfamily (IgSF). These receptors mediate phagocytosis of IgG-coated pathogens and promote activation of effector cells, leading to inflammatory responses and antibody-mediated cellular cytotoxicity. All FCGR genes map to human chromosome 1. Additional genes in this region, including FREB, encode FCGR homologs that are selectively expressed in B cells and may be implicated in B-cell development and lymphomagenesis.

Supplier: Prosci

MMEL1 is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. MMEL1 is a type II transmembrane protein and is thought to be expressed as a secreted protein. The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart.