"Bioss"

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This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012].

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Gamma Catenin is a common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of gamma Catenin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. It is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat.

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C7orf63.

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Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) ; also known as Machado-Joseph disease (MJD). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATXN3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

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Members of the protein-tyrosine phosphatase superfamilycooperate with protein kinases to regulate cell proliferation anddifferentiation. This superfamily is separated into two familiesbased on the substrate that is dephosphorylated. One family, thedual specificity phosphatases (DSPs) acts on both phosphotyrosineand phosphoserine/threonine residues. This gene encodes differentbut related DSP proteins through the use of non-overlapping openreading frames, alternate splicing, and presumed differenttranscription promoters. Expression of the distinct proteins fromthis gene has been found to be tissue specific and the proteins maybe involved in postnatal development of specific tissues. A proteinencoded by the upstream ORF was found in skeletal muscle, whereasthe encoded protein from the downstream ORF was found only intestis. In mouse, a similar pattern of expression was found.Multiple alternatively spliced transcript variants were described,but the full-length sequence of only some were determined.[provided by RefSeq, Jul 2008].

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During development, genetically distinct subtypes of motor neurons express unique combinations of LIM-type homeodomain factors, which regulate cell migration and guide motor axons to establish the fidelity of a binary choice in axonal trajectory. The LIM gene family encodes a set of gene products, which carry the LIM domain, a unique cysteine-rich zinc-binding domain. At least 40 members of this family have been identified in vertebrates and invertebrates, and are distributed into 4 groups according to the number of LIM domains and to the presence of homeodomains and kinase domains. The human LHX5 gene maps to chromosome 12q23-q24 and encodes a 402 amino acid protein. The hippocampus contains the neural circuitry, which is crucial for cognitive functions such as learning and memory. LHX5 regulates precursor cell proliferation and neuronal differentiation and migration during hippocampal development.

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Mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including p53/TP53, P73, HDAC1 and CDKN1B. Preferentially acts on tetrameric p53/TP53. Monoubiquitinates the translesion DNA polymerase POLH. Contributes to the regulation of the cell cycle progression. Increases AR transcription factor activity.

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May be a receptor for the CD200/OX2 cell surface glycoprotein.

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Tumor suppressor serine/threonine-protein kinase involved in mTORC1 signaling and post-transcriptional regulation. Phosphorylates FOXO3, ERK3/MAPK6, ERK4/MAPK4, HSP27/HSPB1, p53/TP53 and RHEB. Acts as a tumor suppressor by mediating Ras-induced senescence and phosphorylating p53/TP53. Involved in post-transcriptional regulation of MYC by mediating phosphorylation of FOXO3: phosphorylation of FOXO3 leads to promote nuclear localization of FOXO3, enabling expression of miR-34b and miR-34c, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent MYC translation. Acts as a negative regulator of mTORC1 signaling by mediating phosphorylation and inhibition of RHEB. Part of the atypical MAPK signaling via its interaction with ERK3/MAPK6 or ERK4/MAPK4: the precise role of the complex formed with ERK3/MAPK6 or ERK4/MAPK4 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPK (ERK3/MAPK6 or ERK4/MAPK4), ERK3/MAPK6 (or ERK4/MAPK4) is phosphorylated and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6 (or ERK4/MAPK4). Mediates phosphorylation of HSP27/HSPB1 in response to PKA/PRKACA stimulation, inducing F-actin rearrangement.

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NEEP21, also known as Brain neuron cytoplasmic protein 1, NSG1 (neuron-specific proteins family member 1), P21 or D4S234E, is a single pass type II membrane protein belonging to the NSG family. It is highly expressed during neuronal maturation but its expression is downregulated in adult tissues. NEEP21 predominantly localizes to Rab 4-positive early endosomes in the somatodendritic neuronal compartment and is essential for proper receptor sorting and recycling in neurons. It associates with GRIP1 and GluR-2 and mediates the surface expression of GluR-2. When this interaction is interrupted, GluR-2 accumulates in early endosomes and leads to changes in evoked synaptic current properties. In addition, NEEP21 forms a complex with the SNARE protein, Syntaxin 13 (also known as Syntaxin 12), and participates in the recycling of transferrin receptors (TFRs) and NTR2 (neurotensin receptor 2).

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Anti-EGFR Rabbit Polyclonal Antibody

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Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. May act as a tumor suppressor.

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Rsk1 is a member of a family of 90kDa ribosomal protein S6 kinases, which includes Rsk1, Rsk2 and Rsk3. These are broadly expressed serine/threonine protein kinases activated in response to mitogenic stimuli, including extracellular signal regulated protein kinases Erk1 and Erk2. Rsk1 is activated by MAPK in vitro and in vivo via phosphorylation. Active Rsks appear to play a major role in transcriptional regulation by translocating to the nucleus and phosphorylating c Fos and CREB.

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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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The tetratricopeptide repeat (TPR) motif is a degenerate, 34 amino acid sequence found in many proteins and acts to mediate protein-protein interactions in various pathways. At the sequence level, there can be up to 16 tandem TPR repeats, each of which has a helix-turn-helix shape that stacks on other TPR repeats to achieve ligand binding specificity. EDRF1 (erythroid differentiation-related factor 1), also known as C10orf137 (chromosome 10 open reading frame 137), is a 1,238 amino acid protein containing two TPR repeats. Localizing to nucleus, EDRF1 is involved in transcriptional activation of globin genes by regulating DNA-binding activity of GATA-1 transcription factor. EDRF1 may also play an important role in organ development and histological differentiation. EDRF1 exists as four alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 10q26.13.

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Involved in intracellular protein transport probably out of a prevacuolar endosomal compartment. May be involved in the release of components of the bilayered coat from the endosomal membrane. The association with ESCRT-III complex mediates the ATP-dependent disassembly of the ESCRT-III complex. In case of infection, the HIV-1 virus takes advantage of it for budding and exocytic cargos of viral proteins.