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SPRED1
Sprouty-related, EVH1 domain-containing protein 1 (Spread-1) is a protein that in humans is encoded by the ''SPRED1'' gene located on chromosome 15q13.2 and has seven coding exons. Function SPRED-1 is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Clinical associations Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). Mutations in this gene are associated with * Legius syndrome. * * Childhood leukemia Mutations The following mutations have been observed: * An exon 3 c.46C>T mutation leading to p.Arg16Stop. This mutation may result in a truncated nonfunctional protein. Blast cells analysis displayed the same abnormality as germline mutation with one mutated allele (no somatic SPRED1 single-point mutation or loss of heterozygosity was found). ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Legius Syndrome
Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots."Legius syndrome" Genetics Home Reference, It was first described in 2007 and is often mistaken for neurofibromatosis type I (NF-1). It is caused by mutations in the '''' gene. It is also known as neurofibromatosis type 1-like syndrome (NFLS). Symptoms and signs Nearly all individuals with Legius syn ...[...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukemia
Leukemia ( also spelled leukaemia and pronounced ) is a group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells. These blood cells are not fully developed and are called ''blasts'' or ''leukemia cells''. Symptoms may include bleeding and bruising, bone pain, fatigue, fever, and an increased risk of infections. These symptoms occur due to a lack of normal blood cells. Diagnosis is typically made by blood tests or bone marrow biopsy. The exact cause of leukemia is unknown. A combination of genetic factors and environmental (non-inherited) factors are believed to play a role. Risk factors include smoking, ionizing radiation, petrochemicals (such as benzene), prior chemotherapy, and Down syndrome. People with a family history of leukemia are also at higher risk. There are four main types of leukemia— acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL) and chronic myeloi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromin 1
Neurofibromin 1 (''NF1'') is a gene in humans that is located on chromosome 17. ''NF1'' codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. ''NF1'' has a high mutation rate and mutations in ''NF1'' can alter cellular growth control, and neural development, resulting in neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). Symptoms of NF1 include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), skeletal defects, optic nerve gliomas, life-threatening malignant peripheral nerve sheath tumors (MPNST), pheochromocytoma, attention deficits, learning deficits and other cognitive disabilities. Gene ''NF1'' was cloned in 1990 and its gene product neurofibromin was identified in 1992. Neurofibromin, a GTPase-activating protein, primarily regulates the protein Ras. ''NF1'' is located on the long arm of chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EVH1 Domain
WH1 domain is an evolutionary conserved protein domain. Therefore, it has an important function. Function WH1 domains are found on WASP proteins, which are often involved in actin polymerization. Hence, WH1 is important for all cellular processes involving actin, this includes cell motility, cell trafficking, cell division and cytokinesis, cell signalling, and the establishment and maintenance of cell junctions and cell shape. Structure Tertiary structure of the WH1 domain of the Mena protein revealed structure similarities with the pleckstrin (PH) domain. The overall fold consists of a compact parallel beta-sandwich, closed along one edge by a long alpha helix. A highly conserved cluster of three surface-exposed aromatic side-chains forms the recognition site for the molecule's target ligands. Interactions The WASP protein family control actin polymerization by activating the Arp2/3 complex. WASP is defective in Wiskott–Ald ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPR Domain
In molecular biology the SPR domain is a protein domain found in the Sprouty (Spry) and Spread (Sprouty related EVH1 domain) proteins. These have been identified as Enzyme inhibitor, inhibitors of the Ras/mitogen-activated protein kinase (MAPK) cascade, a pathway crucial for developmental processes initiated by gene activation, activation of various receptor tyrosine kinases. These proteins share a conserved, C-terminal cysteine-rich region, the SPR Domain (biology), domain. This domain has been defined as a novel cytosol to Cell membrane, membrane Chromosomal translocation, translocation domain. It has been found to be a PtdIns(4,5)P2-binding domain that targets the proteins to a cell (biology), cellular localization that maximizes their inhibitory potential. It also mediates homodimer formation of these proteins. The SPR domain can occur in association with the WH1 domain (see ) (located in the N-terminus) in the Spread proteins. Examples Human genes encoding protein containi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPRED2
Sprouty-related, EVH1 domain-containing protein 2 is a protein that in humans is encoded by the ''SPRED2'' gene. Function SPRED2 is a member of the Sprouty (see SPRY1)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1 Mitogen-activated protein kinase 1, (MAPK 1), also known as ERK2, is an enzyme that in humans is encoded by the ''MAPK1'' gene. Function The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracel ...). References Further reading * * * * * * * * * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Legius syndrome SPRED1 Sprouty-related, EVH1 domain-containing protein 1 SPR domain EVH1 domain Human proteins {{gene-2-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPRY2
Sprouty homolog 2 (Drosophila), also known as SPRY2, is a protein which in humans is encoded by the ''SPRY2'' gene. Function This gene encodes a protein belonging to the sprouty family. The encoded protein contains a C-terminus, carboxyl-terminal cysteine-rich protein domain, domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated Protein translocation, translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to basic fibroblast growth factor, fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a r ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPRY1
Protein sprouty homolog 1 is a protein that in humans is encoded by the ''SPRY1'' gene. See also *Neurofibromin 1 *SPRED1 Sprouty-related, EVH1 domain-containing protein 1 (Spread-1) is a protein that in humans is encoded by the ''SPRED1'' gene located on chromosome 15q13.2 and has seven coding exons. Function SPRED-1 is a member of the Sprouty family of proteins ... References Further reading * * * * * * * * * * External links * * SPR domain Human proteins {{gene-4-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proteins
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residues ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Proteins
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically modern huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPRY4
Protein sprouty homolog 4 is a protein that in humans is encoded by the ''SPRY4'' gene. Function SPRY4 is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. It is positioned upstream of RAS (see HRAS; MIM 190020) activation and impairs the formation of active GTP-RAS (Leeksma et al., 2002). Interactions SPRY4 has been shown to interact with TESK1. See also *MAPK signaling pathway *Ras subfamily Ras, from "Rat sarcoma virus", is a family of related proteins that are expressed in all animal cell lineages and organs. All Ras protein family members belong to a class of protein called small GTPase, and are involved in transmitting signals ... References Further reading * * * * * * External links PDBe-KBprovides an overview of all the structure information available in the PDB for Human Protein sprouty homolog 4 (SPRY4) SPR domain Human proteins {{gene-5-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
