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Gene id 4092
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol SMAD7   Gene   UCSC   Ensembl
Aliases CRCS3, MADH7, MADH8
Gene name SMAD family member 7
Alternate names mothers against decapentaplegic homolog 7, MAD (mothers against decapentaplegic, Drosophila) homolog 7, MAD homolog 8, Mothers against decapentaplegic, drosophila, homolog of, 7, SMAD, mothers against DPP homolog 7, hSMAD7, mothers against DPP homolog 8,
Gene location 18q21.1 (48950710: 48919852)     Exons: 5     NC_000018.10
Gene summary(Entrez) 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]
OMIM 602932

Protein Summary

Protein general information O15105  

Name: Mothers against decapentaplegic homolog 7 (MAD homolog 7) (Mothers against DPP homolog 7) (Mothers against decapentaplegic homolog 8) (MAD homolog 8) (Mothers against DPP homolog 8) (SMAD family member 7) (SMAD 7) (Smad7) (hSMAD7)

Length: 426  Mass: 46,426

Tissue specificity: Ubiquitous with higher expression in the lung and vascular endothelium.

Sequence MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGGELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHP
HPPAAGAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPP
SSYSLPLLLCKVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTADC
PDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQ
LNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAY
SLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR
Structural information
Protein Domains
MH1. (64-207)
MH2. (261-426)

Motifs
PY-motif. (208-211)
Interpro:  IPR013790 IPR003619 IPR013019 IPR017855 IPR001132 IPR008984
Prosite:   PS51075 PS51076

Pfam:  
PF03165 PF03166

PDB:  
2DJY 2KXQ 2LTV 2LTW 2LTX 2LTY 2LTZ
PDBsum:   2DJY 2KXQ 2LTV 2LTW 2LTX 2LTY 2LTZ

DIP:  
42252
MINT:   1179821
STRING:   ENSP00000262158;
Other Databases GeneCards:  SMAD7;  Malacards:  SMAD7

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0001657 ureteric bud development
IEA biological_process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005518 collagen binding
IEA molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005667 transcription factor comp
lex
IEA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEA biological_process
GO:0008013 beta-catenin binding
IPI molecular_function
GO:0010717 regulation of epithelial
to mesenchymal transition
IMP biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
IC biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
TAS biological_process
GO:0010801 negative regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010944 negative regulation of tr
anscription by competitiv
e promoter binding
IDA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IC biological_process
GO:0022409 positive regulation of ce
ll-cell adhesion
IDA biological_process
GO:0030336 negative regulation of ce
ll migration
TAS biological_process
GO:0030509 BMP signaling pathway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030514 negative regulation of BM
P signaling pathway
IDA biological_process
GO:0030617 transforming growth facto
r beta receptor, inhibito
ry cytoplasmic mediator a
ctivity
IDA molecular_function
GO:0031397 negative regulation of pr
otein ubiquitination
IDA biological_process
GO:0031398 positive regulation of pr
otein ubiquitination
IDA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032436 positive regulation of pr
oteasomal ubiquitin-depen
dent protein catabolic pr
ocess
IDA biological_process
GO:0032925 regulation of activin rec
eptor signaling pathway
IDA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0034333 adherens junction assembl
y
IMP biological_process
GO:0034616 response to laminar fluid
shear stress
IEP biological_process
GO:0034629 cellular protein complex
localization
IDA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0035556 intracellular signal tran
sduction
IEA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048185 activin binding
IPI molecular_function
GO:0048844 artery morphogenesis
ISS biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
IDA biological_process
GO:0055010 ventricular cardiac muscl
e tissue morphogenesis
ISS biological_process
GO:0055117 regulation of cardiac mus
cle contraction
ISS biological_process
GO:0060373 regulation of ventricular
cardiac muscle cell memb
rane depolarization
IC biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
ISS biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
TAS biological_process
GO:0060412 ventricular septum morpho
genesis
ISS biological_process
GO:0070411 I-SMAD binding
IPI molecular_function
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IMP biological_process
GO:0005913 cell-cell adherens juncti
on
IDA cellular_component
GO:0016342 catenin complex
IDA cellular_component
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0001657 ureteric bud development
IEA biological_process
GO:0003677 DNA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005518 collagen binding
IEA molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005667 transcription factor comp
lex
IEA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEA biological_process
GO:0007179 transforming growth facto
r beta receptor signaling
pathway
IEA biological_process
GO:0008013 beta-catenin binding
IPI molecular_function
GO:0010717 regulation of epithelial
to mesenchymal transition
IMP biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
IC biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
TAS biological_process
GO:0010801 negative regulation of pe
ptidyl-threonine phosphor
ylation
IEA biological_process
GO:0010801 negative regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010944 negative regulation of tr
anscription by competitiv
e promoter binding
IDA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IEA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IC biological_process
GO:0022409 positive regulation of ce
ll-cell adhesion
IEA biological_process
GO:0022409 positive regulation of ce
ll-cell adhesion
IDA biological_process
GO:0030336 negative regulation of ce
ll migration
TAS biological_process
GO:0030509 BMP signaling pathway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030514 negative regulation of BM
P signaling pathway
IEA biological_process
GO:0030514 negative regulation of BM
P signaling pathway
IDA biological_process
GO:0030617 transforming growth facto
r beta receptor, inhibito
ry cytoplasmic mediator a
ctivity
IDA molecular_function
GO:0031397 negative regulation of pr
otein ubiquitination
IDA biological_process
GO:0031398 positive regulation of pr
otein ubiquitination
IDA biological_process
GO:0031625 ubiquitin protein ligase
binding
IEA molecular_function
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032436 positive regulation of pr
oteasomal ubiquitin-depen
dent protein catabolic pr
ocess
IDA biological_process
GO:0032925 regulation of activin rec
eptor signaling pathway
IDA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0034333 adherens junction assembl
y
IMP biological_process
GO:0034616 response to laminar fluid
shear stress
IEP biological_process
GO:0034629 cellular protein complex
localization
IDA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0035556 intracellular signal tran
sduction
IEA biological_process
GO:0043234 protein complex
IEA cellular_component
GO:0043234 protein complex
IDA cellular_component
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045892 negative regulation of tr
anscription, DNA-template
d
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048185 activin binding
IPI molecular_function
GO:0048844 artery morphogenesis
IEA biological_process
GO:0048844 artery morphogenesis
ISS biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
IDA biological_process
GO:0055010 ventricular cardiac muscl
e tissue morphogenesis
IEA biological_process
GO:0055010 ventricular cardiac muscl
e tissue morphogenesis
ISS biological_process
GO:0055117 regulation of cardiac mus
cle contraction
IEA biological_process
GO:0055117 regulation of cardiac mus
cle contraction
ISS biological_process
GO:0060373 regulation of ventricular
cardiac muscle cell memb
rane depolarization
IC biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
IEA biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
ISS biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
TAS biological_process
GO:0060412 ventricular septum morpho
genesis
IEA biological_process
GO:0060412 ventricular septum morpho
genesis
ISS biological_process
GO:0070411 I-SMAD binding
IPI molecular_function
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IEA biological_process
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IMP biological_process
GO:0005913 cell-cell adherens juncti
on
IDA cellular_component
GO:0016342 catenin complex
IDA cellular_component
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0008013 beta-catenin binding
IPI molecular_function
GO:0010717 regulation of epithelial
to mesenchymal transition
IMP biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
IC biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
TAS biological_process
GO:0010801 negative regulation of pe
ptidyl-threonine phosphor
ylation
IDA biological_process
GO:0010944 negative regulation of tr
anscription by competitiv
e promoter binding
IDA biological_process
GO:0017015 regulation of transformin
g growth factor beta rece
ptor signaling pathway
IC biological_process
GO:0022409 positive regulation of ce
ll-cell adhesion
IDA biological_process
GO:0030336 negative regulation of ce
ll migration
TAS biological_process
GO:0030509 BMP signaling pathway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
IDA biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030512 negative regulation of tr
ansforming growth factor
beta receptor signaling p
athway
TAS biological_process
GO:0030514 negative regulation of BM
P signaling pathway
IDA biological_process
GO:0030617 transforming growth facto
r beta receptor, inhibito
ry cytoplasmic mediator a
ctivity
IDA molecular_function
GO:0031397 negative regulation of pr
otein ubiquitination
IDA biological_process
GO:0031398 positive regulation of pr
otein ubiquitination
IDA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0032436 positive regulation of pr
oteasomal ubiquitin-depen
dent protein catabolic pr
ocess
IDA biological_process
GO:0032925 regulation of activin rec
eptor signaling pathway
IDA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IDA biological_process
GO:0034333 adherens junction assembl
y
IMP biological_process
GO:0034616 response to laminar fluid
shear stress
IEP biological_process
GO:0034629 cellular protein complex
localization
IDA biological_process
GO:0034713 type I transforming growt
h factor beta receptor bi
nding
IPI molecular_function
GO:0043234 protein complex
IDA cellular_component
GO:0043433 negative regulation of se
quence-specific DNA bindi
ng transcription factor a
ctivity
IDA biological_process
GO:0044212 transcription regulatory
region DNA binding
IDA molecular_function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0048185 activin binding
IPI molecular_function
GO:0048844 artery morphogenesis
ISS biological_process
GO:0050821 protein stabilization
IDA biological_process
GO:0051444 negative regulation of ub
iquitin-protein transfera
se activity
IDA biological_process
GO:0055010 ventricular cardiac muscl
e tissue morphogenesis
ISS biological_process
GO:0055117 regulation of cardiac mus
cle contraction
ISS biological_process
GO:0060373 regulation of ventricular
cardiac muscle cell memb
rane depolarization
IC biological_process
GO:0060389 pathway-restricted SMAD p
rotein phosphorylation
ISS biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
IDA biological_process
GO:0060394 negative regulation of pa
thway-restricted SMAD pro
tein phosphorylation
TAS biological_process
GO:0060412 ventricular septum morpho
genesis
ISS biological_process
GO:0070411 I-SMAD binding
IPI molecular_function
GO:0071560 cellular response to tran
sforming growth factor be
ta stimulus
IMP biological_process
GO:0005913 cell-cell adherens juncti
on
IDA cellular_component
GO:0016342 catenin complex
IDA cellular_component

KEGG pathways

hsa04390  Hippo signaling pathway
hsa04350  TGF-beta signaling pathway

Diseases

Associated diseases References
Colorectal cancer OMIM: 602932
Endometrial cancer PMID: 15661223
Endometriosis PMID: 20001709
Endometriosis INFBASE20001709

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20001709 Endometrio
sis


activin A
Smad7
NGF-beta
Show abstract