Splicing factor, suppressor of white-apricot homolog is a protein in humans that is encoded by the SFSWAP gene. [5]
Proteins are large biomolecules, or macromolecules, consisting of 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 three-dimensional structure that determines its activity.
In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.
This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [5]
Drosophila is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many species to linger around overripe or rotting fruit. They should not be confused with the Tephritidae, a related family, which are also called fruit flies ; tephritids feed primarily on unripe or ripe fruit, with many species being regarded as destructive agricultural pests, especially the Mediterranean fruit fly. One species of Drosophila in particular, D. melanogaster, has been heavily used in research in genetics and is a common model organism in developmental biology. The terms "fruit fly" and "Drosophila" are often used synonymously with D. melanogaster in modern biological literature. The entire genus, however, contains more than 1,500 species and is very diverse in appearance, behavior, and breeding habitat.
An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product. The word intron is derived from the term intragenic region, i.e. a region inside a gene. The term intron refers to both the DNA sequence within a gene and the corresponding sequence in RNA transcripts. Sequences that are joined together in the final mature RNA after RNA splicing are exons. Introns are found in the genes of most organisms and many viruses, and can be located in a wide range of genes, including those that generate proteins, ribosomal RNA (rRNA), and transfer RNA (tRNA). When proteins are generated from intron-containing genes, RNA splicing takes place as part of the RNA processing pathway that follows transcription and precedes translation.
Fibronectin is a high-molecular weight (~440kDa) glycoprotein of the extracellular matrix that binds to membrane-spanning receptor proteins called integrins. Fibronectin also binds to other extracellular matrix proteins such as collagen, fibrin, and heparan sulfate proteoglycans.
Mothers against decapentaplegic homolog 1 also known as SMAD family member 1 or SMAD1 is a protein that in humans is encoded by the SMAD1 gene.
Mothers against decapentaplegic homolog 5 also known as SMAD5 is a protein that in humans is encoded by the SMAD5 gene.
Mothers against decapentaplegic homolog 9 also known as SMAD9, SMAD8, and MADH6 is a protein that in humans is enocoded by the SMAD9 gene.
Platelet-derived growth factor subunit B is a protein that in humans is encoded by the PDGFB gene.
Large tumor suppressor kinase 2 (LATS2) is an enzyme that in humans is encoded by the LATS2 gene.
Lethal(3)malignant brain tumor-like protein is a protein that in humans is encoded by the L3MBTL gene.
Lethal(2) giant larvae protein homolog 1 is a protein that in humans is encoded by the LLGL1 gene.
NK3 homeobox 2 also known as NKX3-2 is a human gene. It is a homolog of bagpipe(bap) in Drosophila and therefore also known as Bapx1. The protein encoded by this gene is a homeo domain containing transcription factor.
Desert hedgehog, also Desert hedgehog homolog or Dhh, is a protein encoded by the DHH gene, and is a member of the hedgehog signaling pathway. The human homolog (DHH) is on chromosome band 12q13.1. The protein encoded by this gene is involved in cell signaling. The several mammalian variants of the Drosophila hedgehog gene have been named after the various species of hedgehog; the desert hedgehog is honored by this one. The gene is not specific to desert hedgehogs.
Sestrin 1, also known as p53-regulated protein PA26, is a protein that in humans is encoded by the SESN1 gene. This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Dachshund homolog 2 is a protein that in humans is encoded by the DACH2 gene.
Pygopus homolog 1 (Drosophila) is a protein in humans that is encoded by the PYGO1 gene.
SLX1 structure-specific endonuclease subunit homolog B is a protein in humans that is encoded by the SLX1B gene.
Additional sex combs like 3 (Drosophila) is a protein that in humans is encoded by the ASXL3 gene.
Transport and Golgi organization protein 6 homolog also known as transmembrane and coiled-coil domain-containing protein 7 is a protein that in humans is encoded by the TANGO6 gene.
Germ cell-less, spermatogenesis associated 1 is a protein that in humans is encoded by the GMCL1 gene.
Suppressor of cytokine signaling 4 is a protein that in humans is encoded by the SOCS4 gene.
Interleukin 17 receptor D is a protein that in humans is encoded by the IL17RD gene.
Lysine methyltransferase 2E is a protein that in humans is encoded by the KMT2E gene.
RAS p21 protein activator 2 is a protein that in humans is encoded by the RASA2 gene.
This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it. |