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Aliases for SMAD7 Gene

Aliases for SMAD7 Gene

  • SMAD Family Member 7 2 3 4
  • MADH7 3 4 6
  • Mothers Against DPP Homolog 8 3 4
  • MAD Homolog 8 3 4
  • HSMAD7 3 4
  • MADH8 3 4
  • CRCS3 3 6
  • MAD, Mothers Against Decapentaplegic Homolog 7 (Drosophila) 2
  • MAD (Mothers Against Decapentaplegic, Drosophila) Homolog 7 3
  • Mothers Against Decapentaplegic, Drosophila, Homolog Of, 7 3
  • SMAD, Mothers Against DPP Homolog 7 (Drosophila) 2
  • Mothers Against Decapentaplegic Homolog 7 3
  • Mothers Against Decapentaplegic Homolog 8 4
  • SMAD, Mothers Against DPP Homolog 7 3
  • Mothers Against DPP Homolog 7 4
  • MAD Homolog 7 4
  • SMAD 7 4
  • Smad7 4

External Ids for SMAD7 Gene

Previous Symbols for SMAD7 Gene

  • MADH8
  • MADH7

Summaries for SMAD7 Gene

Entrez Gene Summary for SMAD7 Gene

  • The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GeneCards Summary for SMAD7 Gene

SMAD7 (SMAD Family Member 7) is a Protein Coding gene. Diseases associated with SMAD7 include colorectal cancer 3 and colorectal cancer. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and ubiquitin protein ligase binding. An important paralog of this gene is SMAD1.

UniProtKB/Swiss-Prot for SMAD7 Gene

  • Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator (By similarity).

Gene Wiki entry for SMAD7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD7 Gene

Genomics for SMAD7 Gene

Genomic Location for SMAD7 Gene

Start:
48,919,853 bp from pter
End:
48,950,711 bp from pter
Size:
30,859 bases
Orientation:
Minus strand

Genomic View for SMAD7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMAD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMAD7 Gene

Regulatory Elements for SMAD7 Gene

Proteins for SMAD7 Gene

  • Protein details for SMAD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15105-SMAD7_HUMAN
    Recommended name:
    Mothers against decapentaplegic homolog 7
    Protein Accession:
    O15105
    Secondary Accessions:
    • B7Z773
    • K7EQ10
    • O14740
    • Q6DK23

    Protein attributes for SMAD7 Gene

    Size:
    426 amino acids
    Molecular mass:
    46426 Da
    Quaternary structure:
    • Interacts with WWP1 (By similarity). Interacts with COPS5. Interacts with NEDD4L. Interacts with STAMBP. Interacts with RNF111, AXIN1 and AXIN2. Interacts with PPP1R15A. Interacts (via MH2 domain) with EP300. Interacts with ACVR1B, SMURF1, SMURF2 and TGFBR1; SMAD7 recruits SMURF1 and SMURF2 to the TGF-beta receptor and regulates its degradation. Interacts with PDPK1 (via PH domain).

    Three dimensional structures from OCA and Proteopedia for SMAD7 Gene

    Alternative splice isoforms for SMAD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMAD7 Gene

Proteomics data for SMAD7 Gene at MOPED

Post-translational modifications for SMAD7 Gene

  • Acetylation prevents ubiquitination and degradation mediated by SMURF1.
  • Phosphorylation on Ser-249 does not affect its stability, nuclear localization or inhibitory function in TGFB signaling; however it affects its ability to regulate transcription (By similarity). Phosphorylated by PDPK1.
  • Ubiquitinated by WWP1 (By similarity). Polyubiquitinated by RNF111, which is enhanced by AXIN1 and promotes proteasomal degradation. In response to TGF-beta, ubiquitinated by SMURF1; which promotes its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMAD7 Gene

No data available for DME Specific Peptides for SMAD7 Gene

Domains for SMAD7 Gene

Gene Families for SMAD7 Gene

HGNC:

UniProtKB/Swiss-Prot:

SMAD7_HUMAN
Domain:
  • Contains 1 MH1 (MAD homology 1) domain.:
    • O15105
  • Contains 1 MH2 (MAD homology 2) domain.:
    • O15105
Family:
  • Belongs to the dwarfin/SMAD family.:
    • O15105
genes like me logo Genes that share domains with SMAD7: view

Function for SMAD7 Gene

Molecular function for SMAD7 Gene

UniProtKB/Swiss-Prot Function: Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator (By similarity).
UniProtKB/Swiss-Prot Induction: By TGFB1

Gene Ontology (GO) - Molecular Function for SMAD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding IPI 14993265
GO:0005518 collagen binding IEA --
GO:0008013 beta-catenin binding IPI 18593713
GO:0030617 transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity IDA 9256479
genes like me logo Genes that share ontologies with SMAD7: view
genes like me logo Genes that share phenotypes with SMAD7: view

Animal Models for SMAD7 Gene

MGI Knock Outs for SMAD7:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SMAD7 Gene

Localization for SMAD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMAD7 Gene

Nucleus. Cytoplasm. Note=Interaction with NEDD4L or RNF111 or induces translocation from the nucleus to the cytoplasm. TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMAD7 Gene COMPARTMENTS Subcellular localization image for SMAD7 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 4
extracellular 3
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMAD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA 11278251
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IDA 11278251
genes like me logo Genes that share ontologies with SMAD7: view

Pathways for SMAD7 Gene

genes like me logo Genes that share pathways with SMAD7: view

Gene Ontology (GO) - Biological Process for SMAD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 17438144
GO:0001657 ureteric bud development IEA --
GO:0006351 transcription, DNA-templated TAS --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with SMAD7: view

Compounds for SMAD7 Gene

(18) Novoseek inferred chemical compound relationships for SMAD7 Gene

Compound -log(P) Hits PubMed IDs
tgf beta1 71.9 6
sb 203580 40.9 1
hydroxyproline 24.6 3
matrigel 17.9 2
bleomycin 16.4 7
genes like me logo Genes that share compounds with SMAD7: view

Transcripts for SMAD7 Gene

Unigene Clusters for SMAD7 Gene

SMAD family member 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMAD7 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1: - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for SMAD7 Gene

GeneLoc Exon Structure for
SMAD7
ECgene alternative splicing isoforms for
SMAD7

Expression for SMAD7 Gene

mRNA expression in normal human tissues for SMAD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMAD7 Gene

This gene is overexpressed in Artery - Tibial (4.9) and Heart - Atrial Appendage (4.6).

SOURCE GeneReport for Unigene cluster for SMAD7 Gene Hs.465087

mRNA Expression by UniProt/SwissProt for SMAD7 Gene

O15105-SMAD7_HUMAN
Tissue specificity: Ubiquitous with higher expression in the lung and vascular endothelium
genes like me logo Genes that share expressions with SMAD7: view

Orthologs for SMAD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMAD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMAD7 36
  • 99.77 (n)
  • 99.77 (a)
SMAD7 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMAD7 36
  • 94.99 (n)
  • 96.48 (a)
SMAD7 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMAD7 36
  • 95.28 (n)
  • 96.23 (a)
SMAD7 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smad7 36
  • 95.38 (n)
  • 98.12 (a)
Smad7 16
Smad7 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMAD7 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMAD7 37
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smad7 36
  • 94.99 (n)
  • 97.89 (a)
chicken
(Gallus gallus)
Aves SMAD7 36
  • 78.12 (n)
  • 80.36 (a)
SMAD7 37
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMAD7 37
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia madh7 36
tropical clawed frog
(Silurana tropicalis)
Amphibia smad7 36
  • 79.09 (n)
  • 85.04 (a)
Str.18078 36
zebrafish
(Danio rerio)
Actinopterygii madh7 36
smad7 36
  • 77.06 (n)
  • 80.11 (a)
smad7 37
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dad 37
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-8 37
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9437 37
  • 35 (a)
OneToMany
Species with no ortholog for SMAD7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMAD7 Gene

ENSEMBL:
Gene Tree for SMAD7 (if available)
TreeFam:
Gene Tree for SMAD7 (if available)

Paralogs for SMAD7 Gene

Paralogs for SMAD7 Gene

Selected SIMAP similar genes for SMAD7 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SMAD7: view

Variants for SMAD7 Gene

Sequence variations from dbSNP and Humsavar for SMAD7 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs884013 -- 48,929,760(+) GGCCT(C/T)GTTTT intron-variant
rs1052572 -- 48,921,441(-) TGGGG(C/T)CAGTG reference, synonymous-codon
rs1316447 -- 48,946,306(-) TGGCC(C/T)GGGAA intron-variant
rs1319953 -- 48,929,569(+) ctctc(A/T)cacac intron-variant
rs1873189 -- 48,942,174(-) CTTCA(G/T)CTTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMAD7 Gene

Variant ID Type Subtype PubMed ID
nsv833644 CNV Gain 17160897
nsv833645 CNV Loss 17160897

Relevant External Links for SMAD7 Gene

HapMap Linkage Disequilibrium report
SMAD7
Human Gene Mutation Database (HGMD)
SMAD7

Disorders for SMAD7 Gene

(1) OMIM Diseases for SMAD7 Gene (602932)

UniProtKB/Swiss-Prot

SMAD7_HUMAN
  • Colorectal cancer 3 (CRCS3) [MIM:612229]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:17934461}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SMAD7 Gene

(38) Novoseek inferred disease relationships for SMAD7 Gene

Disease -log(P) Hits PubMed IDs
renal fibrosis 51.5 2
keloid 46.9 7
pancreatic cancer 46.2 16
scars hypertrophic 45.6 1
pulmonary fibrosis 38.8 3

Relevant External Links for SMAD7

Genetic Association Database (GAD)
SMAD7
Human Genome Epidemiology (HuGE) Navigator
SMAD7
genes like me logo Genes that share disorders with SMAD7: view

Publications for SMAD7 Gene

  1. Identification of Smad7, a TGFbeta-inducible antagonist of TGF-beta signalling. (PMID: 9335507) Nakao A. … ten Dijke P. (Nature 1997) 3 4 23
  2. Smurf1 interacts with transforming growth factor-beta type I receptor through Smad7 and induces receptor degradation. (PMID: 11278251) Ebisawa T. … Miyazono K. (J. Biol. Chem. 2001) 3 4 23
  3. Smad7 binds to Smurf2 to form an E3 ubiquitin ligase that targets the TGF-beta receptor for degradation. (PMID: 11163210) Kavsak P. … Wrana J.L. (Mol. Cell 2000) 3 4 23
  4. Arkadia amplifies TGF-beta superfamily signaling through degradation of Smad7. (PMID: 14657019) Koinuma D. … Miyazono K. (EMBO J. 2003) 3 4 23
  5. Jab1/CSN5, a component of the COP9 signalosome, regulates transforming growth factor beta signaling by binding to Smad7 and promoting its degradation. (PMID: 14993265) Kim B.-C. … Kim S.-J. (Mol. Cell. Biol. 2004) 3 4 23

Products for SMAD7 Gene

  • Addgene plasmids for SMAD7

Sources for SMAD7 Gene

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