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

Gene ID: 17125, updated on 21-Apr-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 osteoblast differentiation; positive regulation of transcription by RNA polymerase II; and transmembrane receptor protein serine/threonine kinase signaling pathway. Acts upstream of or within several processes, including animal organ development; osteoblast fate commitment; and positive regulation of macromolecule metabolic process. Located in cytoplasm and nucleus. Part of 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, Apr 2022]
Expression
Ubiquitous expression in colon adult (RPKM 15.8), whole brain E14.5 (RPKM 15.2) and 28 other tissues See more
Orthologs
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Genomic context

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)
  • Targeted (9)  1 citation
  • Endonuclease-mediated (2) 

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 ISO
Inferred from Sequence Orthology
more info
 
enables DNA binding 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 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 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 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 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
 
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 
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 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 DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
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
 
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
part_of 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 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