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Description:
Docking protein 1 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. Docking protein 1 contains a putative pleckstrin homology domain at the amino terminus and ten PXXP SH3 recognition motifs. Docking protein 2 binds p120 (RasGAP) from CML cells. It has been postulated to play a role in mitogenic signaling.
Description:
F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments.
Description:
Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers, and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGFβ modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The C18orf56 gene product has been provisionally designated C18orf56 pending further characterization.
Description:
This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses in neurons. It is a cation-specific, but otherwise relatively nonselective, ion channel.
Description:
Encoding over 300 genes, chromosome 18 contains about 76 million bases. Trisomy 18, or Edwards syndrome, is the second most common trisomy after Downs syndrome. Symptoms of Edwards syndrome include low birth weight, a variety of physical development defects, heart deformations and breathing difficulty. Translocation between chromosome 18 and 14 is the most common translocation in cancers, and occurs in follicular lymphomas. Niemann-Pick disease, hereditary hemorrhagic telangiectasia and erythropoietic protoporphyria are associated with chromosome 18. The TGFβ modulators, Smad2, Smad4 and Smad7 are encoded by chromosome 18. The C18orf56 gene product has been provisionally designated C18orf56 pending further characterization.
Description:
Docking protein 1 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. Docking protein 1 contains a putative pleckstrin homology domain at the amino terminus and ten PXXP SH3 recognition motifs. Docking protein 2 binds p120 (RasGAP) from CML cells. It has been postulated to play a role in mitogenic signaling.
Description:
C16orf44 is a 616 amino acid protein that contains six Kelch repeats, one BTB/POZ domain and one BTB/Kelch associated (BACK) domain. C16orf44 is believed to play a role in protein ubiquitination and may function as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex. E3 ligases accept a ubiquitin residue from an E2 ubiquitin-conjugating enzyme and immediately transfer that residue to a protein that is targeted for degradation. Specifically, C16orf44 interacts with CUL-3, a member of the cullin family of mediators that participate in the selective targeting of proteins for ubiquitin-mediated proteolysis. Due to alternative splicing events, two isoforms of C16orf44 are expressed.
Description:
Cytokeratins (CK) are intermediate filaments of epithelial cells, both in keratinising tissue (ie., skin) and non keratinising cells (ie., mesothelial cells). Although not a traditional marker for endothelial cells, cytokeratins have also been found in some microvascular endothelial cells. At least 20 different cytokeratins (CK) in the molecular range of 40 to 70 kDa and isoelectric points of 5 to 8.5 can be identified using two dimensional gel electrophoresis. Biochemically, most members of the CK family fall into one of two classes, type I (acidic polypeptides) and type II (basic polypeptides). At least one member of the acidic family and one member of the basic family is expressed in all epithelial cells. Defects in KRT5 are a cause of epidermolysis bullosa simplex.
Description:
RILPL2 is a 211 amino acid protein that belongs to the RILPL family. RILPL2 does not regulate lysosomal morphology or distribution. RILPL2 shares 32% and 18% amino acid identity with RILPL1 and RILP, respectively. RILPL2 as a novel interacting partner for the actin-based molecular motor MyoVa, and has a novel role for RILPL2 in controlling neuronal morphogenesis. It has been suggested that there is also a novel role for RILPL2 in the regulation of cellular shape and dendritic-spine morphogenesis, probably via the Rac1-Pak pathway. PCR analysis of human tissues detects highest RILPL2 expression in lung, followed by placenta. Lower expression is detected in liver, kidney, pancreas, heart and brain, but no expression is detected in skeletal muscle. The RILPL2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 12q24.31.
Description:
X-linked recessive myotubular myopathy is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness that, in most cases, leads to early postnatal death. The gene responsible for myotubular myopathy MTM1 encodes a dual specificity phosphatase, named myotubularin, which is highly conserved through evolution. The gene for MTM1 is localized to a 300 kb critical region on human Xq128 between IDS and GRBRA3. Human MTM1, a 603 amino-acid protein, is mutated in myotubular myopathy. The largely related protein hMTMR2 is found mutated in a recessive form of Charcot-Marie-Tooth neuropathy. Myotubularin is primarily a lipid phosphatase that acts on phosphatidylinositol 3-monophosphate and is involved in the regulation of the phosphatidylinositol 3-kinase (PI3-kinase) pathway and membrane trafficking. Wild-type myotubularin can directly dephosphorylate PI3P and PI4P in vitro. Thus, it decreases PI3P levels by down-regulating PI3K activity and by facilitating the degradation of PI3P.
Description:
Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling.
Description:
Separase is a cysteine protease that is essential for mitotic progression by separating sister chromatids. Each cell must receive one chromatid of every chromosome, during mitosis. Cohesin plays an important role in cohering sister chromatids during the prophase through anaphase stages of mitosis, making certain that genomic information is replicated accurately. As the cellular division process continues, separase destroys cohesin by means of cleavage, allowing the chromatids to separate and divide with the cell. Separase activity is highly regulated. It not only cleaves cohesin at the onset of anaphase but also cleaves itself, promoting downregulation of separase after anaphase. Should a human cell become an aneuploid (one too many or too few chromatids), the embryo most likely will not survive. Should the embryo survive, it will most likely develop severe birth defects or later develop malignant cancers.
Description:
Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling.
Description:
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 FAM96B gene product has been provisionally designated FAM96B pending further characterization.
Description:
E2F's are DNA binding proteins, which associate with negative regulators, such as the retinoblastoma p107 protein, resulting in an altered rate of gene transcription. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. E2F1 is proposed to be involved in several cellular processes that range from tumor suppressor, cell progression and oncogenesis. E2F1 overexpression can also drive cells into apoptosis.
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