Protein-coding gene in the species Homo sapiens
SMAD1 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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1KHU, 2LAW, 2LAX, 2LAY, 2LAZ, 2LB0, 2LB1, 3Q47, 3Q4A |
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Identifiers |
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Aliases | SMAD1, BSP-1, BSP1, JV4-1, JV41, MADH1, MADR1, SMAD family member 1 |
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External IDs | OMIM: 601595; MGI: 109452; HomoloGene: 21196; GeneCards: SMAD1; OMA:SMAD1 - orthologs |
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Gene location (Mouse) |
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| Chr. | Chromosome 8 (mouse)[1] |
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| Band | 8|8 C1 | Start | 80,065,024 bp[1] |
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End | 80,126,147 bp[1] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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| 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
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BioGPS | | More reference expression data |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | NP_001003688 NP_005891 NP_001341740 NP_001341741 NP_001341742
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NP_001341743 NP_001341745 NP_001341746 |
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Location (UCSC) | n/a | Chr 8: 80.07 – 80.13 Mb |
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PubMed search | [2] | [3] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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]
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
- ^ 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
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(1) Basic domains |
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(1.1) Basic leucine zipper (bZIP) | |
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(1.2) Basic helix-loop-helix (bHLH) | Group A | |
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Group B | |
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Group C bHLH-PAS | |
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Group D | |
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Group E | |
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Group F bHLH-COE | |
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(1.3) bHLH-ZIP | |
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(1.4) NF-1 | |
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(1.5) RF-X | |
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(1.6) Basic helix-span-helix (bHSH) | |
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(2) Zinc finger DNA-binding domains |
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(2.1) Nuclear receptor (Cys4) | subfamily 1 | |
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subfamily 2 | |
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subfamily 3 | |
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subfamily 4 | |
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subfamily 5 | |
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subfamily 6 | |
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subfamily 0 | |
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(2.2) Other Cys4 | |
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(2.3) Cys2His2 | |
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(2.4) Cys6 | |
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(2.5) Alternating composition | |
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(2.6) WRKY | |
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(4) β-Scaffold factors with minor groove contacts |
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(0) Other transcription factors |
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see also transcription factor/coregulator deficiencies |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
| This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it. |
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Type I | ALK1 (ACVRL1) | - Kinase inhibitors: K-02288
- ML-347 (LDN-193719, VU0469381)
- Other inhibitors: Disitertide
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ALK2 (ACVR1A) | - Kinase inhibitors: DMH-1
- DMH-2
- Dorsomorphin (BML-275)
- K-02288
- ML-347 (LDN-193719, VU0469381)
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ALK3 (BMPR1A) | - Kinase inhibitors: DMH-2
- Dorsomorphin (BML-275)
- K-02288
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ALK4 (ACVR1B) | - Kinase inhibitors: A 83-01
- SB-431542
- SB-505124
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ALK5 (TGFβR1) | |
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ALK6 (BMPR1B) | - Agonists: BMP (2, 4, 5, 6, 7, 8A, 8B, 15 (GDF9B))
- Dibotermin alfa
- Eptotermin alfa
- GDF (5 (BMP14), 6 (BMP13), 7 (BMP12), 9, 15)
- Radotermin
- Kinase inhibitors: DMH-2
- Dorsomorphin (BML-275)
- K-02288
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ALK7 (ACVR1C) | - Antagonists: Lefty (1, 2)
- Kinase inhibitors: A 83-01
- SB-431542
- SB-505124
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Type II | TGFβR2 | - Kinase inhibitors: DMH-2
- LY-364947
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BMPR2 | |
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ACVR2A (ACVR2) | - Agonists: Activin (A, B, AB)
- BMP (2, 4, 5, 6, 7, 8A, 8B, 15 (GDF9B))
- Dibotermin alfa
- Eptotermin alfa
- GDF (1, 3, 5 (BMP14), 6 (BMP13), 7 (BMP12), 9, 11 (BMP11), 15)
- Myostatin (GDF8)
- Nodal
- Radotermin
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ACVR2B | - Agonists: Activin (A, B, AB)
- BMP (2, 4, 6, 7)
- Dibotermin alfa
- Eptotermin alfa
- GDF (1, 3, 5 (BMP14), 6 (BMP13), 7 (BMP12))
- Myostatin (GDF8)
- Nodal
- Osteogenin (BMP3, BMP3A)
- Radotermin
- Decoy receptors: Ramatercept
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AMHR2 (AMHR) | |
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Type III | |
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Unsorted | |
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