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

Gene ID: 17129, updated on 7-Mar-2023

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; cellular response to BMP stimulus; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including animal organ development; osteoblast fate commitment; and transmembrane receptor protein serine/threonine kinase 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, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 19.1), CNS E11.5 (RPKM 17.5) and 28 other tissues See more
Orthologs
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Genomic context

See Smad5 in Genome Data Viewer
Location:
13 B1; 13 30.12 cM
Exon count:
9
Annotation release Status Assembly Chr Location
109 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_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32965 Neighboring gene predicted gene, 32910 Neighboring gene predicted gene, 33019 Neighboring gene small integral membrane protein 32 Neighboring gene predicted gene, 52066

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 (5)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
acts_upstream_of_or_within 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
PubMed 
involved_in cellular response to BMP stimulus IGI
Inferred from Genetic Interaction
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 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 
acts_upstream_of_or_within multicellular organism development 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 ISO
Inferred from Sequence Orthology
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 
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 
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 from RNA polymerase II promoter involved in cellular response to chemical stimulus 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 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
PubMed 
involved_in transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
part_of heteromeric SMAD protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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)

  1. NM_001164041.1NP_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
    P97454, Q810K0
    UniProtKB/TrEMBL
    A0A6P5QVY6, A0A8C6MYX6
    Related
    ENSMUSP00000105502.2, ENSMUST00000109876.8
    Conserved Domains (2) summary
    cd10490
    Location:10133
    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
  2. NM_001164042.1NP_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
    P97454, Q810K0
    UniProtKB/TrEMBL
    A0A6P5QVY6, A0A8C6MYX6
    Related
    ENSMUSP00000105500.2, ENSMUST00000109874.2
    Conserved Domains (2) summary
    cd10490
    Location:10133
    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
  3. NM_008541.3NP_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
    P97454, Q810K0
    UniProtKB/TrEMBL
    A0A6P5QVY6, A0A8C6MYX6
    Related
    ENSMUSP00000065798.8, ENSMUST00000069557.14
    Conserved Domains (2) summary
    cd10490
    Location:10133
    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

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    56850804..56890191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q810K0
    UniProtKB/TrEMBL
    A0A6P5QVY6, A0A8C6MYX6
    Conserved Domains (2) summary
    cd10490
    Location:10133
    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
  2. XM_006517118.5XP_006517181.1  mothers against decapentaplegic homolog 5 isoform X1

    See identical proteins and their annotated locations for XP_006517181.1

    UniProtKB/Swiss-Prot
    P97454, Q810K0
    UniProtKB/TrEMBL
    A0A6P5QVY6, A0A8C6MYX6
    Conserved Domains (2) summary
    cd10490
    Location:10133
    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
  3. XM_006517117.3XP_006517180.1  mothers against decapentaplegic homolog 5 isoform X1

    See identical proteins and their annotated locations for XP_006517180.1

    UniProtKB/Swiss-Prot
    P97454, Q810K0
    UniProtKB/TrEMBL
    A0A6P5QVY6, A0A8C6MYX6
    Conserved Domains (2) summary
    cd10490
    Location:10133
    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
  4. XM_030247171.2XP_030103031.1  mothers against decapentaplegic homolog 5 isoform X1

    UniProtKB/Swiss-Prot
    Q810K0
    UniProtKB/TrEMBL
    A0A6P5QVY6, A0A8C6MYX6
    Conserved Domains (2) summary
    cd10490
    Location:10133
    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