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Beschreibung:
AKT1-specific substrates have been recently identified, including palladin (PALLD), which phosphorylation modulates cytoskeletal organization and cell motility; prohibitin (PHB), playing an important role in cell metabolism and proliferation; and CDKN1A, for which phosphorylation at 'Thr-145' induces its release from CDK2 and cytoplasmic relocalization. These recent findings indicate that the AKT1 isoform has a more specific role in cell motility and proliferation. Phosphorylates CLK2 thereby controlling cell survival to ionizing radiation.
Beschreibung:
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known. Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth.
Beschreibung:
Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis.
Beschreibung:
The human protooncogene JUN is the putative transforming gene of avian sarcoma virus 17, and it encodes a protein which is highly homologous to the viral protein. cJun (previously known as the Fos binding protein p39) and c Fos form a complex in the nucleus. AP 1 (activating protein 1) is a collective term referring to these dimeric transcription factors composed of Jun, Fos or ATF subunits that bind to a common DNA site, the AP1 binding site. AP 1 proteins, mostly the Jun group, regulate the expression and function of cell cycle regulators such as Cyclin D1, p53, p21 (cip1/waf1), p19 (ARF) and p16. Fos and Jun proto oncogene expression is induced transiently by a variety of extracellular stimuli associated with mitogenesis, differentiation processes or depolarization of neurons. JUN has been mapped to 1p32 to p31, a chromosomal region involved in both translocations and deletions in human malignancies.
Beschreibung:
Three different forms of human pancreatic procarboxypeptidase A have been isolated. This gene encodes a monomeric pancreatic exopeptidase involved in zymogen inhibition. [provided by RefSeq, Jan 2009].
Beschreibung:
The downstream of kinase family (Dok-1-7) are members of a class of docking proteins that interact with receptor tyrosine kinases and, via this interaction, mediate biological responses within the body. Dok-4 (Downstream of kinase-4) is a 326 amino acid protein that contains one PH domain and one IRS-type PTB domain and belongs to the Dok family of interacting proteins. Expressed in a variety of tissues with highest expression in liver, heart, kidney and skeletal muscle, Dok-4 plays an important role in Ret-mediated neurite outgrowth and may link Ret with downstream effectors during neuronal differentiation. Additionally, Dok-4 is thought to play a positive role in the activation of MAPK pathways and may participate in T-cell induced immune system regulation. Overexpression of Dok-4 is associated with clear cell renal cell carcinoma, suggesting a role for Dok-4 in tumorigenesis.
Beschreibung:
Apoptosis is regulated by death domain (DD) and/or caspase recruitment domain (CARD)bcontaining molecules and a caspase family of proteases. CARD containing cell death regulators include RAIDD, RICK, BCL10, Apaf 1, caspase 9 and caspase 2. Apoptosis repressor with CARD is a CARD domain containing protein that interacts with caspase 2 and 8 to inhibit enzymatic activity of caspase 8. Apoptosis repressor with CARD suppresses apoptosis induced by cell death adapters FADD and TRADD and by cell death receptors Fas, TNFR 1, and DR3. The mRNA of Apoptosis repressor with CARD is primarily expressed in skeletal muscle and cardiac tissue. The nuclear isoform (1/Nop30) may be involved in RNA splicing and the cytoplasmic isoform (2/Myp) may inhibit apoptosis.
Beschreibung:
The tripartite motif (TRIM) family of proteins are characterized by a conserved TRIM domain that includes a coiled-coil region, a B-box type zinc finger, one RING finger and three zinc-binding domains. TRIM7 (tripartite motif-containing 7), also known as RNF90 or GNIP, is a 511 amino acid protein that belongs to the TRIM family and contains one RING-type zinc finger, one B box-type zinc finger and one SPRY domain. Expressed in placenta and skeletal muscle and present at lower levels in brain, heart and pancreas, TRIM7 localizes to both the cytoplasm and the nucleus where it exists as dimers and is thought to participate in the initiation of glycogen synthesis. Multiple isoforms of TRIM7 exist due to alternative splicing events.
Beschreibung:
Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation by G-protein coupled receptors (GPCRs) ligands such as CXCL12, sphingosine 1-phosphate, and lysophosphatidic acid. May also act downstream receptor tyrosine kinases. Required in different signaling pathways for stable platelet adhesion and aggregation. Plays a role in platelet activation signaling triggered by GPCRs, alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) and ITAM (immunoreceptor tyrosine-based activation motif)-bearing receptors such as GP6. Regulates the strength of adhesion of ITGA2B/ ITGB3 activated receptors necessary for the cellular transmission of contractile forces. Required for platelet aggregation induced by F2 (thrombin) and thromboxane A2 (TXA2). Has a role in cell survival. May have a role in cell migration. Involved in the early stage of autophagosome formation. Modulates the intracellular level of PtdIns3P (Phosphatidylinositol 3-phosphate) and activates PIK3C3 kinase activity. May act as a scaffold, independently of its lipid kinase activity to positively regulate autophagy. May have a role in insulin signaling as scaffolding protein in which the lipid kinase activity is not required. May have a kinase-independent function in regulating cell proliferation and in clathrin-mediated endocytosis. Mediator of oncogenic signal in cell lines lacking PTEN. The lipid kinase activity is necessary for its role in oncogenic transformation. Required for the growth of ERBB2 and RAS driven tumors.
Beschreibung:
This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti PORIMIN (pro oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death.
Beschreibung:
This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010].
Beschreibung:
Fibulin-7 is a 439 amino acid extracellular matrix protein that belongs to the Fibulin family. Containing two EGF-like domains and one sushi (CCP/SCR) domain, Fibulin-7 exists as four alternatively spliced isoforms. Fibulin-7 is considered an adhesion protein that interacts with extracellular matrix molecules in developing teeth, and may be involved in differentiation and maintenance of odontoblasts as well as in dentin formation. Fibulin-7 is post-translationally glycosylated with N-linked oligosaccharides and interacts with heparin, fibronectin, fibulin-1 and DSP (dentin sialophosphoprotein). Fibulin-7 is encoded by a gene located on human chromosome 2, which consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome.
Beschreibung:
C12orf23 (chromosome 12 open reading frame 23), also known as FLJ11721, FLJ13959 or MGC17943, is a 116 amino acid multi-pass membrane protein belonging to the UPF0444 family. C12orf23 is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a number of skeletal deformities, including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
Beschreibung:
Differentiation of myogenic cells is regulated by multiple positively and negatively acting factors. One well characterized family of helix-loop-helix (HLH) proteins known to play an important role in the regulation of muscle cell development include Myo D, myogenin, Myf-5 and Myf-6 (also designated MRF-4 or herculin). Of interest, most muscle cells express either Myo D or Myf-5 in the committed state, but when induced to differentiate, all turn on expression of myogenin. Myo D transcription factors form heterodimers with products of a more widely expressed family of bHLH genes, the E family, which consists of at least three distinct genes: E2A, IF2 and HEB. Myo D-E heterodimers bind avidly to consensus (CANNTG) E box target sites that are functionally important elements in the upstream regulatory sequences of many muscle-specific terminal differentiation genes.
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