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

    Gene ID: 17129, updated on 27-Nov-2024

    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
    NEW
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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
    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_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32965 Neighboring gene predicted gene, 32910 Neighboring gene predicted gene, 33019 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:56848550-56848761 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)
    • Endonuclease-mediated (4) 
    • Targeted (5)  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 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

    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)

    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_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
      P70341, P97454, Q810K0
      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
      P70341, P97454, Q810K0
      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
      P70341, P97454, Q810K0
      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: 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_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
      P70341, P97454, Q810K0
      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
      P70341, P97454, Q810K0
      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
      P70341, P97454, Q810K0
      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
      P70341, P97454, Q810K0
      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