Mothers against decapentaplegic homolog 1

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]

SMAD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1KHU, 2LAW, 2LAX, 2LAY, 2LAZ, 2LB0, 2LB1, 3Q47, 3Q4A
Identifiers
Aliases	SMAD1, BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1, SMAD family member 1
External IDs	OMIM: 601595; MGI: 109452; HomoloGene: 21196; GeneCards: SMAD1; OMA:SMAD1 - orthologs
Gene location (Mouse) Chr. Chromosome 8 (mouse)[1] Band 8|8 C1 Start 80,065,024 bp[1] End 80,126,147 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in Ileal epithelium Paneth cell ureter conjunctival fornix fossa endothelial cell of lymphatic vessel medullary collecting duct internal carotid artery lacrimal gland hair follicle BioGPS More reference expression data
Gene ontology Molecular function DNA 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-specific Cellular component cytoplasm integral component of membrane SMAD protein complex cytosol transcription regulator complex intracellular anatomical structure nucleoplasm nuclear inner membrane nucleus protein-containing complex Biological process positive 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 angiogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4086 17125 Ensembl ENSG00000170365 ENSMUSG00000031681 UniProt Q15797 P70340 RefSeq (mRNA) NM_001003688 NM_005900 NM_008539 RefSeq (protein) NP_001003688 NP_005891 NP_001341740 NP_001341741 NP_001341742 NP_001341743 NP_001341745 NP_001341746 NP_032565 Location (UCSC) n/a Chr 8: 80.07 – 80.13 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Nomenclature

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]

Function

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]

SMAD1 is a receptor regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase.

References

1. GRCm38: Ensembl release 89: ENSMUSG00000031681 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. 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.
6. "Sonic Hedgehog, DICER, and the Problem With Naming Genes", Sep 26, 2014, Michael White. psmag.com
7. "Interactive fly, Drosophila".
8. "Entrez Gene: SMAD1 SMAD family member 1".

External links

• Drosophila 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.