SMAD1 belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma.[citation needed] The name is a combination of the two; and based on a tradition of such unusual naming within the gene research community.[6]
It was found that a mutation in the 'Drosophila' gene, MAD, in the mother, repressed the gene, decapentaplegic, in the embryo. Mad mutations can be placed in an allelic series based on the relative severity of the maternal effect enhancement of weak dpp alleles, thus explaining the name Mothers against dpp.[7]
Functionedit
SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed.[8]
mothers, against, decapentaplegic, homolog, also, known, smad, family, member, smad1, protein, that, humans, encoded, smad1, gene, smad1available, structurespdbortholog, search, pdbe, rcsblist, codes1khu, 2law, 2lax, 2lay, 2laz, 2lb0, 2lb1, 3q47, 3q4aidentifie. 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 4 5 SMAD1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1KHU 2LAW 2LAX 2LAY 2LAZ 2LB0 2LB1 3Q47 3Q4AIdentifiersAliasesSMAD1 BSP 1 BSP1 JV4 1 JV41 MADH1 MADR1 SMAD family member 1External IDsOMIM 601595 MGI 109452 HomoloGene 21196 GeneCards SMAD1Gene location Mouse Chr Chromosome 8 mouse 1 Band8 8 C1Start80 065 024 bp 1 End80 126 147 bp 1 RNA expression patternBgeeHumanMouse ortholog n aTop expressed inPaneth cellureterconjunctival fornixfossamedullary collecting ductinternal carotid arterylacrimal glandhair folliclecondyleseminal vesiculaBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding co SMAD binding protein homodimerization activity I SMAD binding DNA binding transcription factor activity DNA binding transcription activator activity RNA polymerase II specific metal ion binding protein binding identical protein binding protein heterodimerization activity protein kinase binding sequence specific DNA binding DEAD H box RNA helicase binding primary miRNA binding RNA polymerase II cis regulatory region sequence specific DNA binding DNA binding transcription factor activity RNA polymerase II specificCellular componentcytoplasm integral component of membrane SMAD protein complex cytosol transcription regulator complex intracellular anatomical structure nucleoplasm nuclear inner membrane nucleus protein containing complexBiological processpositive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus SMAD protein complex assembly ureteric bud development regulation of transcription DNA templated SMAD protein signal transduction embryonic pattern specification regulation of transcription by RNA polymerase II cellular response to organic cyclic compound hindbrain development cellular response to BMP stimulus cardiac muscle cell proliferation BMP signaling pathway transcription DNA templated MAPK cascade protein phosphorylation gamete generation cartilage development positive regulation of gene expression positive regulation of osteoblast differentiation positive regulation of cartilage development primary miRNA processing mesodermal cell fate commitment inflammatory response bone development transforming growth factor beta receptor signaling pathway midbrain development signal transduction negative regulation of cell population proliferation positive regulation of transcription by RNA polymerase II osteoblast fate commitment homeostatic process transcription by RNA polymerase II positive regulation of pri miRNA transcription by RNA polymerase II protein deubiquitination positive regulation of sprouting angiogenesisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez408617125EnsemblENSG00000170365ENSMUSG00000031681UniProtQ15797P70340RefSeq mRNA NM 001003688NM 005900NM 008539RefSeq protein NP 001003688NP 005891NP 001341740NP 001341741NP 001341742NP 001341743NP 001341745NP 001341746NP 032565Location UCSC n aChr 8 80 07 80 13 MbPubMed search 2 3 WikidataView Edit HumanView Edit Mouse Contents 1 Nomenclature 2 Function 3 References 4 External linksNomenclature editSMAD1 belongs to the SMAD a family of proteins similar to the gene products of the Drosophila gene mothers against decapentaplegic Mad and the C elegans gene Sma citation needed The name is a combination of the two and based on a tradition of such unusual naming within the gene research community 6 It was found that a mutation in the Drosophila gene MAD in the mother repressed the gene decapentaplegic in the embryo Mad mutations can be placed in an allelic series based on the relative severity of the maternal effect enhancement of weak dpp alleles thus explaining the name Mothers against dpp 7 Function editSMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways This protein mediates the signals of the bone morphogenetic proteins BMPs which are involved in a range of biological activities including cell growth apoptosis morphogenesis development and immune responses In response to BMP ligands this protein can be phosphorylated and activated by the BMP receptor kinase The phosphorylated form of this protein forms a complex with SMAD4 which is important for its function in the transcription regulation This protein is a target for SMAD specific E3 ubiquitin ligases such as SMURF1 and SMURF2 and undergoes ubiquitination and proteasome mediated degradation Alternatively spliced transcript variants encoding the same protein have been observed 8 SMAD1 is a receptor regulated SMAD R SMAD and is activated by bone morphogenetic protein type 1 receptor kinase References edit a b c GRCm38 Ensembl release 89 ENSMUSG00000031681 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Hoodless PA Haerry T Abdollah S Stapleton M O Connor MB Attisano L Wrana JL May 1996 MADR1 a MAD related protein that functions in BMP2 signaling pathways Cell 85 4 489 500 doi 10 1016 S0092 8674 00 81250 7 PMID 8653785 S2CID 2275955 Riggins GJ Thiagalingam S Rozenblum E Weinstein CL Kern SE Hamilton SR Willson JK Markowitz SD Kinzler KW Vogelstein B July 1996 Mad related genes in the human Nature Genetics 13 3 347 9 doi 10 1038 ng0796 347 PMID 8673135 S2CID 10124489 Sonic Hedgehog DICER and the Problem With Naming Genes Sep 26 2014 Michael White psmag com Interactive fly Drosophila Entrez Gene SMAD1 SMAD family member 1 External links editDrosophila Mothers against dpp The Interactive Fly Smad1 Protein at the U S National Library of Medicine Medical Subject Headings MeSH SMAD1 protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 4 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Mothers against decapentaplegic homolog 1 amp oldid 1079122913, wikipedia, wiki, book, books, library,
