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    Smad1 SMAD family member 1 [ Mus musculus (house mouse) ]

    Gene ID: 17125, updated on 27-Nov-2024

    Summary

    Official Symbol
    Smad1provided by MGI
    Official Full Name
    SMAD family member 1provided by MGI
    Primary source
    MGI:MGI:109452
    See related
    Ensembl:ENSMUSG00000031681 AllianceGenome:MGI:109452
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mad1; Mlp1; Madh1; Madr1; dwf-A; mMad1; MusMLP
    Summary
    Enables DNA-binding transcription factor activity, RNA polymerase II-specific; identical protein binding activity; and nucleic acid binding activity. Involved in several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; osteoblast differentiation; and positive regulation of miRNA transcription. Acts upstream of or within several processes, including brain development; positive regulation of macromolecule biosynthetic process; and skeletal system development. Located in cytoplasm and nucleus. Part of homomeric SMAD protein complex and transcription regulator complex. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; nervous system; and sensory organ. Orthologous to human SMAD1 (SMAD family member 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon adult (RPKM 15.8), whole brain E14.5 (RPKM 15.2) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Smad1 in Genome Data Viewer
    Location:
    8 C1; 8 37.56 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (80065024..80126057, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (79338395..79399428, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene methylmalonic aciduria (cobalamin deficiency) type A Neighboring gene predicted gene 4890 Neighboring gene STARR-positive B cell enhancer mm9_chr8:81853038-81853338 Neighboring gene predicted gene, 51578 Neighboring gene predicted gene, 39205

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (9)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DEAD/H-box RNA helicase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DEAD/H-box RNA helicase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables I-SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables I-SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables I-SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables co-SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables co-SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables primary miRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in BMP signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in BMP signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in MAPK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in SMAD protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within bone development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cardiac muscle cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cardiac muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle hypertrophy in response to stress ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cartilage development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to organic cyclic compound IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in embryonic pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within gamete generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hindbrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within homeostatic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inflammatory response IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within mesodermal cell fate commitment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within midbrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ossification ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within osteoblast fate commitment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cartilage development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of miRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of osteoblast differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of sprouting angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to xenobiotic stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ureteric bud development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of heteromeric SMAD protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of heteromeric SMAD protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of homomeric SMAD protein complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of homomeric SMAD protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mothers against decapentaplegic homolog 1
    Names
    MAD homolog 1
    dwarfin-A
    mad-related protein 1
    mothers against DPP homolog 1
    mothers-against-DPP-related 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_008539.4NP_032565.2  mothers against decapentaplegic homolog 1

      See identical proteins and their annotated locations for NP_032565.2

      Status: VALIDATED

      Source sequence(s)
      BC058693
      Consensus CDS
      CCDS22437.1
      UniProtKB/Swiss-Prot
      P70340, P70442, Q6GT95, Q9CYK6
      UniProtKB/TrEMBL
      Q8C3Y6
      Related
      ENSMUSP00000071035.8, ENSMUST00000066091.14
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      PRK10263
      Location:133244
      PRK10263; DNA translocase FtsK; Provisional

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      80065024..80126057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530746.5XP_006530809.1  mothers against decapentaplegic homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006530809.1

      UniProtKB/Swiss-Prot
      P70340, P70442, Q6GT95, Q9CYK6
      UniProtKB/TrEMBL
      Q8C3Y6
      Conserved Domains (3) summary
      cd10490
      Location:9132
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cd10497
      Location:265465
      MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9
      PRK10263
      Location:133244
      PRK10263; DNA translocase FtsK; Provisional