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

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, Dec 2024]
Expression: Ubiquitous expression in colon adult (RPKM 15.8), whole brain E14.5 (RPKM 15.2) and 28 other tissues See more
Orthologs: human all
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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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Control of neuronal excitation-inhibition balance by BMP-SMAD1 signalling.
Title: Control of neuronal excitation-inhibition balance by BMP-SMAD1 signalling.
Periodontal ligament-associated protein-1 promotes osteoclastogenesis in mice by modulating TGF-beta1/Smad1 pathway.
Title: Periodontal ligament-associated protein-1 promotes osteoclastogenesis in mice by modulating TGF-β1/Smad1 pathway.
Lrg1 silencing attenuates ischemia-reperfusion renal injury by regulating autophagy and apoptosis through the TGFbeta1- Smad1/5 signaling pathway.
Title: Lrg1 silencing attenuates ischemia-reperfusion renal injury by regulating autophagy and apoptosis through the TGFβ1- Smad1/5 signaling pathway.
The Interaction Between SMAD1 and YAP1 Is Correlated with Increased Resistance of Gastric Cancer Cells to Cisplatin.
Title: The Interaction Between SMAD1 and YAP1 Is Correlated with Increased Resistance of Gastric Cancer Cells to Cisplatin.
Nupr1 deficiency downregulates HtrA1, enhances SMAD1 signaling, and suppresses age-related bone loss in male mice.
Title: Nupr1 deficiency downregulates HtrA1, enhances SMAD1 signaling, and suppresses age-related bone loss in male mice.
Downregulation of METTL14 improves postmenopausal osteoporosis via IGF2BP1 dependent posttranscriptional silencing of SMAD1.
Title: Downregulation of METTL14 improves postmenopausal osteoporosis via IGF2BP1 dependent posttranscriptional silencing of SMAD1.
BMP/SMAD1/5 Signaling in the Endometrial Epithelium Is Essential for Receptivity and Early Pregnancy.
Title: BMP/SMAD1/5 Signaling in the Endometrial Epithelium Is Essential for Receptivity and Early Pregnancy.
DUSP5 promotes osteogenic differentiation through SCP1/2-dependent phosphorylation of SMAD1.
Title: DUSP5 promotes osteogenic differentiation through SCP1/2-dependent phosphorylation of SMAD1.
BMP9 promotes cutaneous wound healing by activating Smad1/5 signaling pathways and cytoskeleton remodeling.
Title: BMP9 promotes cutaneous wound healing by activating Smad1/5 signaling pathways and cytoskeleton remodeling.
Silencing of miR-330-5p stimulates osteogenesis in bone marrow mesenchymal stem cells and inhibits bone loss in osteoporosis by activating Bgn-mediated BMP/Smad pathway.
Title: Silencing of miR-330-5p stimulates osteogenesis in bone marrow mesenchymal stem cells and inhibits bone loss in osteoporosis by activating Bgn-mediated BMP/Smad pathway.

Submit: New GeneRIF Correction See all GeneRIFs (127)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Smad1 (e-PCR), detects polymorphism
- UniSTS:547919

Smad1 (e-PCR), detects polymorphism
- UniSTS:498255

Smad1 (e-PCR), detects polymorphism
- UniSTS:480348

U74359 (e-PCR)
- UniSTS:163441

Smad1 (e-PCR), detects polymorphism
- UniSTS:466569

AI528653 (e-PCR)
- UniSTS:185763

17.MMHAP23FLF2.seq (e-PCR)
- UniSTS:123336

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

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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)

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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)

NM_008539.4 → NP_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:9 → 132

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cd10497
Location:265 → 465

MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9

PRK10263
Location:133 → 244

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

80065024..80126057 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006530746.5 → XP_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:9 → 132

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cd10497
Location:265 → 465

MH2_SMAD_1_5_9; C-terminal Mad Homology 2 (MH2) domain in SMAD1, SMAD5 and SMAD9

PRK10263
Location:133 → 244

PRK10263; DNA translocase FtsK; Provisional