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    SMAD5 SMAD family member 5 [ Homo sapiens (human) ]

    Gene ID: 4090, updated on 3-Dec-2024

    Summary

    Official Symbol
    SMAD5provided by HGNC
    Official Full Name
    SMAD family member 5provided by HGNC
    Primary source
    HGNC:HGNC:6771
    See related
    Ensembl:ENSG00000113658 MIM:603110; AllianceGenome:HGNC:6771
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DWFC; JV5-1; MADH5
    Summary
    The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
    Expression
    Ubiquitous expression in endometrium (RPKM 14.1), ovary (RPKM 13.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SMAD5 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (136132845..136182733)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (136655373..136705263)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (135468534..135518421)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23177 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:135388921-135390120 Neighboring gene transforming growth factor beta induced Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16378 Neighboring gene vault RNA 2-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23178 Neighboring gene SMAD5 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:135488895-135490094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:135527733-135528647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:135528804-135529321 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:135537973-135538930 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:135538931-135539888 Neighboring gene small integral membrane protein 32 Neighboring gene TRPC7 antisense RNA 1 Neighboring gene transient receptor potential cation channel subfamily C member 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat-treated pulmonary arterial smooth muscle cells modulate levels of phosphorylated SMAD1/5/8 proteins and SMAD1/5/8-SMAD4 protein complex, which are repressed by cocaine exposure PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781C1895, DKFZp781O1323

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in Mullerian duct regression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in SMAD protein signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac conduction system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cardiac muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germ cell development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of Fas signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osteoblast fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of SMAD protein complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in chromatin NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of heteromeric SMAD protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in male germ cell nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mothers against decapentaplegic homolog 5
    Names
    MAD, mothers against decapentaplegic homolog 5
    SMA- and MAD-related protein 5
    SMAD, mothers against DPP homolog 5
    mothers against decapentaplegic, drosophila, homolog of, 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.

    Genomic

    1. NG_032037.1 RefSeqGene

      Range
      4999..54887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001419.3NP_001001419.1  mothers against decapentaplegic homolog 5

      See identical proteins and their annotated locations for NP_001001419.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AF071108, AK313397, BK001394, CR749366
      Consensus CDS
      CCDS75308.1
      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1
      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_001001420.3NP_001001420.1  mothers against decapentaplegic homolog 5

      See identical proteins and their annotated locations for NP_001001420.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 1-3 encode the same protein.
      Source sequence(s)
      AF071106, AK313397, BK001394, CR749366
      Consensus CDS
      CCDS75308.1
      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1
      Related
      ENSP00000446474.2, ENST00000545620.5
      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_005903.7NP_005894.3  mothers against decapentaplegic homolog 5

      See identical proteins and their annotated locations for NP_005894.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. Variants 1-3 encode the same protein.
      Source sequence(s)
      AK313397, BK001394, CR749366
      Consensus CDS
      CCDS75308.1
      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1
      Related
      ENSP00000441954.2, ENST00000545279.6
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      136132845..136182733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446047.2XP_024301815.1  mothers against decapentaplegic homolog 5 isoform X1

      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1
      Related
      ENSP00000426696.2, ENST00000509297.6
      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_024446046.2XP_024301814.1  mothers against decapentaplegic homolog 5 isoform X1

      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1
      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_017009470.3XP_016864959.1  mothers against decapentaplegic homolog 5 isoform X1

      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      136655373..136705263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352585.1XP_054208560.1  mothers against decapentaplegic homolog 5 isoform X1

      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1
    2. XM_054352586.1XP_054208561.1  mothers against decapentaplegic homolog 5 isoform X1

      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1
    3. XM_054352587.1XP_054208562.1  mothers against decapentaplegic homolog 5 isoform X1

      UniProtKB/Swiss-Prot
      O14688, Q15798, Q99717, Q9UQA1
      UniProtKB/TrEMBL
      Q68DB7, Q6I9T1