Smad5 SMAD family member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smad5provided by MGI
Official Full Name: SMAD family member 5provided by MGI
Primary source: MGI:MGI:1328787
See related: Ensembl:ENSMUSG00000021540 AllianceGenome:MGI:1328787
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: Dwf-C; Madh5; MusMLP; 1110051M15Rik
Summary: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in SMAD protein signal transduction; negative regulation of transcription by RNA polymerase II; and ureteric bud development. Acts upstream of or within several processes, including osteoblast fate commitment; skeletal system development; and transforming growth factor beta receptor superfamily signaling pathway. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; egg cylinder; embryo mesenchyme; and genitourinary system. Orthologous to human SMAD5 (SMAD family member 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 19.1), CNS E11.5 (RPKM 17.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 B1; 13 30.12 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (56850804..56890191)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (56703010..56742378)

Chromosome 13 - NC_000079.7 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 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?

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.
Long non-coding RNA KCNQ10T1/miR-19a-3p/SMAD5 axis promotes osteogenic differentiation of mouse bone mesenchymal stem cells.
Title: Long non-coding RNA KCNQ10T1/miR-19a-3p/SMAD5 axis promotes osteogenic differentiation of mouse bone mesenchymal stem cells.
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.
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.
BMP-SMAD1/5 Signaling Regulates Retinal Vascular Development.
Title: BMP-SMAD1/5 Signaling Regulates Retinal Vascular Development.
Maternal high protein-diet programs impairment of offspring's bone mass through miR-24-1-5p mediated targeting of SMAD5 in osteoblasts.
Title: Maternal high protein-diet programs impairment of offspring's bone mass through miR-24-1-5p mediated targeting of SMAD5 in osteoblasts.
a pathogenic role for both iron loading and SMAD1/5/8 deficiency in liver injury and fibrosis.
Title: Ablation of Hepatocyte Smad1, Smad5, and Smad8 Causes Severe Tissue Iron Loading and Liver Fibrosis in Mice.
The luciferase reporter assay confirmed a direct interaction between miR-132-3p and Smad5. Thus, miR-132-3p maybe regulates osteoblast differentiation via Smad5 in response to cyclic tensile stress.
Title: MicroRNA-132-3p represses Smad5 in MC3T3-E1 osteoblastic cells under cyclic tensile stress.
SMAD1/5 signaling in osteoclasts regulates bone formation via coupling factors.
Title: SMAD1/5 signaling in osteoclasts regulates bone formation via coupling factors.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Smad5 (e-PCR), detects polymorphism
- UniSTS:547366

BB283889 (e-PCR)
- UniSTS:208937

AW742822 (e-PCR)
- UniSTS:208940

D13Mit208 (e-PCR), detects polymorphism
- UniSTS:127024

AI451355 (e-PCR)
- UniSTS:160310

Smad5 (e-PCR), detects polymorphism
- UniSTS:480350

Smad5 (e-PCR), detects polymorphism
- UniSTS:478946

NoName (e-PCR)
- UniSTS:237029

NoName (e-PCR)
- UniSTS:237030

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 factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IC Inferred by Curator more info
enables DNA-binding transcription repressor 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 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 RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
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
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	TAS Traceable Author Statement more info	PubMed
involved_in Mullerian duct regression	IEA Inferred from Electronic Annotation more info
involved_in Mullerian duct regression	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 anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within bone development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
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_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 erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within germ cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Fas signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of Fas signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within osteoblast fate commitment	IGI Inferred from Genetic Interaction 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 osteoblast differentiation	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
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
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
involved_in stem cell differentiation	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
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in ureteric bud development	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of heteromeric SMAD protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mothers against decapentaplegic homolog 5

Names: MAD homolog 5; Smad 5; dwarfin-C; mSmad5; mothers against DPP homolog 5

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_001164041.1 → NP_001157513.1 mothers against decapentaplegic homolog 5

See identical proteins and their annotated locations for NP_001157513.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.

Source sequence(s)

AC132886

Consensus CDS

CCDS26565.1

UniProtKB/Swiss-Prot

P70341, P97454, Q810K0

Related

ENSMUSP00000105502.2, ENSMUST00000109876.8

Conserved Domains (2) summary

cd10490
Location:10 → 133

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
NM_001164042.1 → NP_001157514.1 mothers against decapentaplegic homolog 5

See identical proteins and their annotated locations for NP_001157514.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 all encode the same protein.

Source sequence(s)

AK082997, AW556382, BC050001

Consensus CDS

CCDS26565.1

UniProtKB/Swiss-Prot

P70341, P97454, Q810K0

Related

ENSMUSP00000105500.2, ENSMUST00000109874.2

Conserved Domains (2) summary

cd10490
Location:10 → 133

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
NM_008541.3 → NP_032567.1 mothers against decapentaplegic homolog 5

See identical proteins and their annotated locations for NP_032567.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate splice site in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 all encode the same protein.

Source sequence(s)

AW556382, BC050001, CJ087944

Consensus CDS

CCDS26565.1

UniProtKB/Swiss-Prot

P70341, P97454, Q810K0

Related

ENSMUSP00000065798.8, ENSMUST00000069557.14

Conserved Domains (2) summary

cd10490
Location:10 → 133

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

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_000079.7 Reference GRCm39 C57BL/6J

Range

56850804..56890191

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157882.1 → XP_036013775.1 mothers against decapentaplegic homolog 5 isoform X1

UniProtKB/Swiss-Prot

P70341, P97454, Q810K0

Conserved Domains (2) summary

cd10490
Location:10 → 133

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
XM_006517118.5 → XP_006517181.1 mothers against decapentaplegic homolog 5 isoform X1

See identical proteins and their annotated locations for XP_006517181.1

UniProtKB/Swiss-Prot

P70341, P97454, Q810K0

Conserved Domains (2) summary

cd10490
Location:10 → 133

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
XM_006517117.3 → XP_006517180.1 mothers against decapentaplegic homolog 5 isoform X1

See identical proteins and their annotated locations for XP_006517180.1

UniProtKB/Swiss-Prot

P70341, P97454, Q810K0

Conserved Domains (2) summary

cd10490
Location:10 → 133

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
XM_030247171.2 → XP_030103031.1 mothers against decapentaplegic homolog 5 isoform X1

UniProtKB/Swiss-Prot

P70341, P97454, Q810K0

Conserved Domains (2) summary

cd10490
Location:10 → 133

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