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Beschreibung:
The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Beschreibung:
The smallest of the human chromosomes, 21 makes up about 1.5% of the human genome. Chromosome 21 contains nearly 300 genes and 47 million base pairs. Down syndrome, also known as trisomy 21, is the disease most commonly associated with chromosome 21. Alzheimer's disease, Jervell and Lange-Nielsen syndrome and amyotrophic lateral sclerosis are also associated with chromosome 21. Translocations are found to occur between chromosome 21 and 8, and chromosome 21 and 12, in certain leukemias. C21orf59, also known as C21orf48, is a 290 amino acid protein and its gene product has been provisionally designated C21orf59 pending further characterization.
Beschreibung:
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Beschreibung:
BAR proteins are characterized by a common N-terminal BAR (bin, amphiphysin and Rvs161/167) domain and are recognized as adaptor proteins that are involved in many cellular processes. BIN1 and BIN2 are BAR proteins that share 61% sequence similarity. BIN1 (Bridging integrator 1) is a ubiquitously expressed regulatory protein for synaptic vesicle endocytosis. BIN1 also interacts with the transcription factors c-Myc and MyoD, potentially functioning as a tumor suppressor. BIN2, also known as Breast cancer-associated protein 1, is a 565 amino acid protein that interacts with BIN1. In contrast to BIN1, BIN2 lacks tumor suppressor features as well as a c-Myc interacting region. BIN2 shows preferred expression in tissues of hematopoietic origin, with high levels found in spleen, thymus, colon, placenta, lymphoid and granulocytic cells. There are two isoforms of BIN2 that are produced as a result of alternative splicing events.
Beschreibung:
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.
Beschreibung:
Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]
Beschreibung:
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. [provided by RefSeq, Jul 2008].
Beschreibung:
F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation.
Beschreibung:
Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), protein kinase PKN (PKN1 and PKN2). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage. Negatively regulates the TGF-beta-induced signaling by: modulating the association of SMAD3 and SMAD7 with TGF-beta receptor, phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing the nuclear translocation of SMAD3 and SMAD4 and the translocation of SMAD7 from the nucleus to the cytoplasm in response to TGF-beta. Activates PPARG transcriptional activity and promotes adipocyte differentiation. Activates the NF-kappa-B pathway via phosphorylation of IKKB. The tyrosine phosphorylated form is crucial for the regulation of focal adhesions by angiotensin II. Controls proliferation, survival, and growth of developing pancreatic cells. Participates in the regulation of Ca(2+) entry and Ca(2+)-activated K(+) channels of mast cells. Essential for the motility of vascular endothelial cells (ECs) and is involved in the regulation of their chemotaxis. Plays a critical role in cardiac homeostasis by serving as a dual effector for cell survival and beta-adrenergic response.
Beschreibung:
Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011].
Beschreibung:
Tom1L-1 is a 476 amino acid Golgi apparatus protein belonging to the TOM1 family and is a member of the multivesicular body (MVB) sorting machinery. Containing a GAT domain and a VHS domain, Tom1L-1 interacts with Fyn, GRB2, PI 3-kinase p85?and various signaling proteins when phosphorylated. GAT domain of Tom1L1 binds ubiquitin, suggesting participation in the sorting of ubiquitinated proteins into MVBs. Tom1L-1 may act as an adapter protein involved in signaling pathways and may promote Fyn activation, possibly by disrupting intramolecular SH3-dependent interactions. As an interactor and a substrate of Src tyrosine kinases (SFK), Tom1L1 is considered a novel mechanism involved in negative regulation of SFK mitogenic and transforming signals. Tom1L1 modulates SFK partitioning at the plasma membrane and downregulates Src kinases in an endosomal-dependent manner. It is suggested that Tom1L-1 functions as an anti-oncogene by inhibiting the formation of squamous cell carcinomas in skin.
Beschreibung:
Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD22 (ankyrin repeat domain 22) is a 191 amino acid protein that contains four ANK repeats. Conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, ANKRD22 is encoded by a gene that maps to human chromosome 10. Chromosome 10 encodes nearly 1,200 genes within 135 million bases, making up approximately 4.5% of the human genome. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
Beschreibung:
This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesised as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1.
Beschreibung:
RAP2B belongs to a family of RAS-related GTP-binding proteins. RAP proteins share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. However, at their 61st amino acid the glutamine in RAS proteins is replaced by threonine in RAP proteins. RAP2A interacts with phospholipase C, epsilon 1 (PLCE1).
Beschreibung:
ZNF217 (Zinc-finger protein 217) is a Kruppel-like zinc-finger protein which functions as a transcriptional repressor protein and forms a complex with a number of proteins including CoREST, BHC110/LSD1, HDAC2 and CtBP1. ZNF217 has been shown to repress E-cadherin promoter activity. ZNF217 is overexpressed in a number of cancers including breast and ovarian. ZNF217 and its associated proteins have been implicated in a novel pathway that is involved in cancer progression.
Beschreibung:
PRE7 is a subunit of the Yeast proteasome. The yeast proteasome seems to be composed of 14 different subunits which form a highly ordered ring-shaped structure. The proteasome degrades poly-ubiquitinated proteins in the cytoplasm and in the nucleus. It is essential for the regulated turnover of proteins and for the removal of misfolded proteins.
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